22-24896089-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24896089
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24896089
    reference: chr 22
allele count: 4
allele frequency: 3.306714283352347e-5
allele num: 120966
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsc: ENST00000326010.5:c.119C>T
  hgvsp: ENSP00000324343.5:p.Pro40Leu
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  hgvsc: ENST00000413389.2:c.73-2005C>T
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  hgvsc: ENST00000415388.1:c.105-2005C>T
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsc: ENST00000382760.2:c.119C>T
  hgvsp: ENSP00000372208.2:p.Pro40Leu
  variant of: http://identifiers.org/hgnc/16297
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26861
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13416
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3613
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8065
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8530
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2141
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1098
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33921
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2620
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro40Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/22-24896090-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24896090
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24896090
    reference: chr 22
allele count: 2
allele frequency: 1.653220473482343e-5
allele num: 120976
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  hgvsc: ENST00000413389.2:c.73-2004C>A
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsc: ENST00000382760.2:c.120C>A
  hgvsp: ENST00000382760.2:c.120C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  hgvsc: ENST00000415388.1:c.105-2004C>A
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsc: ENST00000326010.5:c.120C>A
  hgvsp: ENST00000326010.5:c.120C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16297
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8064
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3614
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13418
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26864
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3216
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33925
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2620
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7890
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Pro40Pro
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

22-24896093-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24896093
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24896093
    reference: chr 22
allele count: 2
allele frequency: 1.652919882973272e-5
allele num: 120998
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  hgvsc: ENST00000413389.2:c.73-2001G>C
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  hgvsc: ENST00000415388.1:c.105-2001G>C
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsc: ENST00000326010.5:c.123G>C
  hgvsp: ENSP00000324343.5:p.Arg41Ser
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsc: ENST00000382760.2:c.123G>C
  hgvsp: ENSP00000372208.2:p.Arg41Ser
  variant of: http://identifiers.org/hgnc/16297
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8080
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3614
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26873
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13419
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33955
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2139
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 3
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genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8532
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 217
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7890
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3219
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg41Ser
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

22-24896097-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24896097
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24896097
    reference: chr 22
allele count: 3
allele frequency: 2.478888136041381e-5
allele num: 121022
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  hgvsc: ENST00000413389.2:c.73-1997G>A
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  hgvsc: ENST00000415388.1:c.105-1997G>A
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsc: ENST00000326010.5:c.127G>A
  hgvsp: ENSP00000324343.5:p.Ala43Thr
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsc: ENST00000382760.2:c.127G>A
  hgvsp: ENSP00000372208.2:p.Ala43Thr
  variant of: http://identifiers.org/hgnc/16297
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3613
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26884
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8081
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13420
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2625
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1097
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8524
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2140
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3221
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala43Thr
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

22-24896098-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24896098
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24896097
    reference: chr 22
allele count: 1
allele frequency: 8.262823902696986e-6
allele num: 121024
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  hgvsc: ENST00000415388.1:c.105-1993delT
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsc: ENST00000382760.2:c.131delT
  hgvsp: ENSP00000372208.2:p.Phe44SerfsTer23
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  hgvsc: ENST00000413389.2:c.73-1993delT
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsc: ENST00000326010.5:c.131delT
  hgvsp: ENSP00000324343.5:p.Phe44SerfsTer23
  variant of: http://identifiers.org/hgnc/16297
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13416
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8090
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3613
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26888
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1097
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7886
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8523
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33989
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2140
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2625
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Phe44SerfsTer23
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: CT
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum

22-24896100-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24896100
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24896100
    reference: chr 22
allele count: 1
allele frequency: 8.262687356435807e-6
allele num: 121026
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  hgvsc: ENST00000413389.2:c.73-1994T>G
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsc: ENST00000382760.2:c.130T>G
  hgvsp: ENSP00000372208.2:p.Phe44Val
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  hgvsc: ENST00000415388.1:c.105-1994T>G
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsc: ENST00000326010.5:c.130T>G
  hgvsp: ENSP00000324343.5:p.Phe44Val
  variant of: http://identifiers.org/hgnc/16297
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3614
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13417
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8091
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26889
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33996
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1097
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2140
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3223
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8522
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Phe44Val
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

22-24896102-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24896102
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24896102
    reference: chr 22
allele count: 3
allele frequency: 2.4786833234186e-5
allele num: 121032
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsc: ENST00000382760.2:c.132C>T
  hgvsp: ENST00000382760.2:c.132C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  hgvsc: ENST00000413389.2:c.73-1992C>T
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  hgvsc: ENST00000415388.1:c.105-1992C>T
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsc: ENST00000326010.5:c.132C>T
  hgvsp: ENST00000326010.5:c.132C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16297
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3614
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13419
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26889
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33998
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3222
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7884
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8521
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1098
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Phe44Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: African
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

22-24896103-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24896103
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24896103
    reference: chr 22
allele count: 3
allele frequency: 2.47843759294141e-5
allele num: 121044
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsc: ENST00000326010.5:c.133G>A
  hgvsp: ENSP00000324343.5:p.Glu45Lys
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  hgvsc: ENST00000415388.1:c.105-1991G>A
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  hgvsc: ENST00000413389.2:c.73-1991G>A
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsc: ENST00000382760.2:c.133G>A
  hgvsp: ENSP00000372208.2:p.Glu45Lys
  variant of: http://identifiers.org/hgnc/16297
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3614
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13419
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26894
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8103
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2622
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8522
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34021
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3222
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2140
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu45Lys
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

22-24896112-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24896112
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24896112
    reference: chr 22
allele count: 4
allele frequency: 3.303710066404573e-5
allele num: 121076
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  hgvsc: ENST00000413389.2:c.73-1982T>C
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  hgvsc: ENST00000415388.1:c.105-1982T>C
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsc: ENST00000326010.5:c.142T>C
  hgvsp: ENSP00000324343.5:p.Ser48Pro
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsc: ENST00000382760.2:c.142T>C
  hgvsp: ENSP00000372208.2:p.Ser48Pro
  variant of: http://identifiers.org/hgnc/16297
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3614
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8126
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13418
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26901
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34043
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1099
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2140
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8529
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser48Pro
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

22-24896113-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24896113
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24896113
    reference: chr 22
allele count: 47
allele frequency: 3.881731086884705e-4
allele num: 121080
alternate allele: G
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsc: ENST00000382760.2:c.143C>G
  hgvsp: ENSP00000372208.2:p.Ser48Cys
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  hgvsc: ENST00000413389.2:c.73-1981C>G
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsc: ENST00000326010.5:c.143C>G
  hgvsp: ENSP00000324343.5:p.Ser48Cys
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  hgvsc: ENST00000415388.1:c.105-1981C>G
  variant of: http://identifiers.org/hgnc/16297
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8129
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13416
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 9.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3605
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26900
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2622
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7885
  bin: 9.75e1
  variant carriers: 47
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1098
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8528
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser48Cys
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

22-24896114-C-CAG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24896114
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24896116
    reference: chr 22
allele count: 1
allele frequency: 8.258593066085262e-6
allele num: 121086
alternate allele: CAG
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsc: ENST00000326010.5:c.148_149dupGA
  hgvsp: ENSP00000324343.5:p.Asp51LysfsTer17
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  hgvsc: ENST00000413389.2:c.73-1976_73-1975dupGA
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  hgvsc: ENST00000415388.1:c.105-1976_105-1975dupGA
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsc: ENST00000382760.2:c.148_149dupGA
  hgvsp: ENSP00000372208.2:p.Asp51LysfsTer17
  variant of: http://identifiers.org/hgnc/16297
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8135
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13427
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26926
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3610
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34092
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1099
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8526
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7842
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Asp51LysfsTer17
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

22-24896137-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24896137
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24896137
    reference: chr 22
allele count: 1
allele frequency: 8.25695648583932e-6
allele num: 121110
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  hgvsc: ENST00000415388.1:c.105-1957G>T
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  hgvsc: ENST00000413389.2:c.73-1957G>T
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsc: ENST00000382760.2:c.167G>T
  hgvsp: ENSP00000372208.2:p.Gly56Val
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsc: ENST00000326010.5:c.167G>T
  hgvsp: ENSP00000324343.5:p.Gly56Val
  variant of: http://identifiers.org/hgnc/16297
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3611
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26886
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13409
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8167
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2139
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3211
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1099
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2618
  bin: 7.25e1
  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: 8509
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7839
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gly56Val
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

22-24896155-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24896155
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24896155
    reference: chr 22
allele count: 1
allele frequency: 8.261595148791329e-6
allele num: 121042
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsc: ENST00000382760.2:c.185C>G
  hgvsp: ENSP00000372208.2:p.Ala62Gly
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsc: ENST00000326010.5:c.185C>G
  hgvsp: ENSP00000324343.5:p.Ala62Gly
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  hgvsc: ENST00000415388.1:c.105-1939C>G
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  hgvsc: ENST00000413389.2:c.73-1939C>G
  variant of: http://identifiers.org/hgnc/16297
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26836
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13390
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8169
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3605
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7838
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34000
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3204
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8493
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2620
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1099
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2134
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala62Gly
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

22-24896155-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24896155
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24896155
    reference: chr 22
allele count: 9
allele frequency: 7.435435633912196e-5
allele num: 121042
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  hgvsc: ENST00000413389.2:c.73-1939C>T
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsc: ENST00000382760.2:c.185C>T
  hgvsp: ENSP00000372208.2:p.Ala62Val
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  hgvsc: ENST00000415388.1:c.105-1939C>T
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsc: ENST00000326010.5:c.185C>T
  hgvsp: ENSP00000324343.5:p.Ala62Val
  variant of: http://identifiers.org/hgnc/16297
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8169
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26836
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3605
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13390
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34000
  bin: 6.25e1
  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: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8493
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3204
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2134
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala62Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

22-24896156-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24896156
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24896156
    reference: chr 22
allele count: 2
allele frequency: 1.652319029758266e-5
allele num: 121042
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsc: ENST00000382760.2:c.186G>A
  hgvsp: ENST00000382760.2:c.186G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsc: ENST00000326010.5:c.186G>A
  hgvsp: ENST00000326010.5:c.186G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  hgvsc: ENST00000415388.1:c.105-1938G>A
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  hgvsc: ENST00000413389.2:c.73-1938G>A
  variant of: http://identifiers.org/hgnc/16297
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3606
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13390
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26842
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3205
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2134
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1099
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34023
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2618
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala62Ala
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

22-24896158-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24896158
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24896158
    reference: chr 22
allele count: 1
allele frequency: 8.26296045347127e-6
allele num: 121022
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  hgvsc: ENST00000413389.2:c.73-1936A>T
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  hgvsc: ENST00000415388.1:c.105-1936A>T
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsc: ENST00000326010.5:c.188A>T
  hgvsp: ENSP00000324343.5:p.Glu63Val
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsc: ENST00000382760.2:c.188A>T
  hgvsp: ENSP00000372208.2:p.Glu63Val
  variant of: http://identifiers.org/hgnc/16297
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13388
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3606
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26835
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1097
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34025
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8494
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3207
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2134
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7827
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Glu63Val
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP

22-24896161-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24896161
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24896161
    reference: chr 22
allele count: 1
allele frequency: 8.264736024331383e-6
allele num: 120996
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  hgvsc: ENST00000415388.1:c.105-1933A>G
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  hgvsc: ENST00000413389.2:c.73-1933A>G
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsc: ENST00000382760.2:c.191A>G
  hgvsp: ENSP00000372208.2:p.Glu64Gly
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsc: ENST00000326010.5:c.191A>G
  hgvsp: ENSP00000324343.5:p.Glu64Gly
  variant of: http://identifiers.org/hgnc/16297
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26830
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13388
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3605
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8148
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8483
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34005
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3207
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2613
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2134
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu64Gly
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

22-24896163-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24896163
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24896163
    reference: chr 22
allele count: 1
allele frequency: 8.265145879824779e-6
allele num: 120990
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  hgvsc: ENST00000415388.1:c.105-1931C>T
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsc: ENST00000382760.2:c.193C>T
  hgvsp: ENSP00000372208.2:p.Gln65Ter
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  hgvsc: ENST00000413389.2:c.73-1931C>T
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsc: ENST00000326010.5:c.193C>T
  hgvsp: ENSP00000324343.5:p.Gln65Ter
  variant of: http://identifiers.org/hgnc/16297
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8140
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26828
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3604
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13389
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1097
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34012
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3204
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8482
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2612
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7825
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gln65Ter
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

22-24896173-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24896173
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24896173
    reference: chr 22
allele count: 2
allele frequency: 1.653794631782625e-5
allele num: 120934
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  hgvsc: ENST00000415388.1:c.105-1921G>A
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsc: ENST00000382760.2:c.203G>A
  hgvsp: ENSP00000372208.2:p.Arg68Gln
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsc: ENST00000326010.5:c.203G>A
  hgvsp: ENSP00000324343.5:p.Arg68Gln
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  hgvsc: ENST00000413389.2:c.73-1921G>A
  variant of: http://identifiers.org/hgnc/16297
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13387
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26803
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8122
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3603
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  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: 3197
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
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genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 8477
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 834
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1096
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7823
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Arg68Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP

22-24896176-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24896176
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24896176
    reference: chr 22
allele count: 1
allele frequency: 8.268973158913126e-6
allele num: 120934
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsc: ENST00000382760.2:c.206C>G
  hgvsp: ENSP00000372208.2:p.Pro69Arg
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  hgvsc: ENST00000413389.2:c.73-1918C>G
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsc: ENST00000326010.5:c.206C>G
  hgvsp: ENSP00000324343.5:p.Pro69Arg
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  hgvsc: ENST00000415388.1:c.105-1918C>G
  variant of: http://identifiers.org/hgnc/16297
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13387
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8130
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3603
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26796
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8473
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7821
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 20
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genotype quality: GenotypeQuality
  all individuals: 2607
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3196
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro69Arg
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

22-24896178-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24896178
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24896178
    reference: chr 22
allele count: 1
allele frequency: 8.269520202437855e-6
allele num: 120926
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsc: ENST00000382760.2:c.208C>T
  hgvsp: ENSP00000372208.2:p.Arg70Cys
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  hgvsc: ENST00000413389.2:c.73-1916C>T
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  hgvsc: ENST00000415388.1:c.105-1916C>T
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsc: ENST00000326010.5:c.208C>T
  hgvsp: ENSP00000324343.5:p.Arg70Cys
  variant of: http://identifiers.org/hgnc/16297
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3602
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8130
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13384
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26796
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8473
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34017
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3194
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2607
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg70Cys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ

22-24896179-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24896179
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24896179
    reference: chr 22
allele count: 5
allele frequency: 4.135307253328923e-5
allele num: 120910
alternate allele: A
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsc: ENST00000326010.5:c.209G>A
  hgvsp: ENSP00000324343.5:p.Arg70His
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  hgvsc: ENST00000413389.2:c.73-1915G>A
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  hgvsc: ENST00000415388.1:c.105-1915G>A
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsc: ENST00000382760.2:c.209G>A
  hgvsp: ENSP00000372208.2:p.Arg70His
  variant of: http://identifiers.org/hgnc/16297
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8126
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13388
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3604
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26794
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2132
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3192
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8470
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg70His
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

22-24896179-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24896179
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24896179
    reference: chr 22
allele count: 7
allele frequency: 5.789430154660491e-5
allele num: 120910
alternate allele: C
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  hgvsc: ENST00000415388.1:c.105-1915G>C
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsc: ENST00000326010.5:c.209G>C
  hgvsp: ENSP00000324343.5:p.Arg70Pro
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsc: ENST00000382760.2:c.209G>C
  hgvsp: ENSP00000372208.2:p.Arg70Pro
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  hgvsc: ENST00000413389.2:c.73-1915G>C
  variant of: http://identifiers.org/hgnc/16297
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3604
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26794
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8126
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13388
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3192
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2132
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8470
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7816
  bin: 9.75e1
  variant carriers: 7
hgvs: p.Arg70Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

22-24896180-CATTGTG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24896180
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24896174
    reference: chr 22
allele count: 1
allele frequency: 8.27034090345204e-6
allele num: 120914
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsc: ENST00000326010.5:c.211_216delATTGTG
  hgvsp: ENSP00000324343.5:p.Ile71_Val72del
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsc: ENST00000382760.2:c.211_216delATTGTG
  hgvsp: ENSP00000372208.2:p.Ile71_Val72del
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  variant of: http://identifiers.org/hgnc/16297
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13388
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3603
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26795
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8129
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  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: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2609
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2133
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7809
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8470
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ile71_Val72del
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
reference allele: CATTGTG
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP

22-24896182-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24896182
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24896182
    reference: chr 22
allele count: 1
allele frequency: 8.271845945141119e-6
allele num: 120892
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  hgvsc: ENST00000413389.2:c.73-1912T>C
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsc: ENST00000326010.5:c.212T>C
  hgvsp: ENSP00000324343.5:p.Ile71Thr
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  hgvsc: ENST00000415388.1:c.105-1912T>C
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsc: ENST00000382760.2:c.212T>C
  hgvsp: ENSP00000372208.2:p.Ile71Thr
  variant of: http://identifiers.org/hgnc/16297
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8117
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13384
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26797
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3603
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2132
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7808
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2608
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ile71Thr
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

22-24896184-G-GTGCA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24896184
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24896188
    reference: chr 22
allele count: 1
allele frequency: 8.27348843366317e-6
allele num: 120868
alternate allele: GTGCA
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsc: ENST00000326010.5:c.215_218dupTGCA
  hgvsp: ENSP00000324343.5:p.Val74AlafsTer26
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  hgvsc: ENST00000415388.1:c.105-1909_105-1906dupTGCA
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsc: ENST00000382760.2:c.215_218dupTGCA
  hgvsp: ENSP00000372208.2:p.Val74AlafsTer26
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  hgvsc: ENST00000413389.2:c.73-1909_73-1906dupTGCA
  variant of: http://identifiers.org/hgnc/16297
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8087
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3603
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13386
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26798
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3192
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33969
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2133
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8469
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7808
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val74AlafsTer26
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

22-24896189-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24896189
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24896189
    reference: chr 22
allele count: 1
allele frequency: 8.276364358664525e-6
allele num: 120826
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  hgvsc: ENST00000415388.1:c.105-1905C>G
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsc: ENST00000382760.2:c.219C>G
  hgvsp: ENSP00000372208.2:p.His73Gln
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsc: ENST00000326010.5:c.219C>G
  hgvsp: ENSP00000324343.5:p.His73Gln
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  hgvsc: ENST00000413389.2:c.73-1905C>G
  variant of: http://identifiers.org/hgnc/16297
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3602
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26796
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13377
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8062
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3188
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7806
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33955
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2129
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2599
  bin: 7.25e1
  variant carriers: 0
hgvs: p.His73Gln
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

22-24896189-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24896189
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24896189
    reference: chr 22
allele count: 7
allele frequency: 5.793455051065168e-5
allele num: 120826
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsc: ENST00000382760.2:c.219C>T
  hgvsp: ENST00000382760.2:c.219C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  hgvsc: ENST00000415388.1:c.105-1905C>T
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  hgvsc: ENST00000413389.2:c.73-1905C>T
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsc: ENST00000326010.5:c.219C>T
  hgvsp: ENST00000326010.5:c.219C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16297
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3602
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13377
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8062
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26796
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7806
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2129
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3188
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2599
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8465
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
hgvs: p.His73His
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

22-24896190-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24896190
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24896190
    reference: chr 22
allele count: 4
allele frequency: 3.310819758972322e-5
allele num: 120816
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsc: ENST00000326010.5:c.220G>A
  hgvsp: ENSP00000324343.5:p.Val74Met
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  hgvsc: ENST00000413389.2:c.73-1904G>A
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  hgvsc: ENST00000415388.1:c.105-1904G>A
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsc: ENST00000382760.2:c.220G>A
  hgvsp: ENSP00000372208.2:p.Val74Met
  variant of: http://identifiers.org/hgnc/16297
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3603
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8053
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26796
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13376
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33946
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3186
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8464
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2601
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  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: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1093
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val74Met
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ

22-24896195-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24896195
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24896195
    reference: chr 22
allele count: 15
allele frequency: 1.242194875532073e-4
allele num: 120754
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsc: ENST00000382760.2:c.225G>T
  hgvsp: ENST00000382760.2:c.225G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  hgvsc: ENST00000413389.2:c.73-1899G>T
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsc: ENST00000326010.5:c.225G>T
  hgvsp: ENST00000326010.5:c.225G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  hgvsc: ENST00000415388.1:c.105-1899G>T
  variant of: http://identifiers.org/hgnc/16297
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8025
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13377
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26781
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3596
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3181
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8455
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2127
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33921
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly75Gly
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff

22-24896210-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24896210
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24896210
    reference: chr 22
allele count: 1
allele frequency: 8.29462508294625e-6
allele num: 120560
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsc: ENST00000326010.5:c.240A>G
  hgvsp: ENST00000326010.5:c.240A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  hgvsc: ENST00000413389.2:c.73-1884A>G
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  hgvsc: ENST00000415388.1:c.105-1884A>G
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsc: ENST00000382760.2:c.240A>G
  hgvsp: ENST00000382760.2:c.240A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16297
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7887
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26736
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13373
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3589
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3175
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2121
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7789
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2584
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg80Arg
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

22-24896216-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24896216
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24896216
    reference: chr 22
allele count: 1
allele frequency: 8.302337938363443e-6
allele num: 120448
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsc: ENST00000382760.2:c.246C>T
  hgvsp: ENST00000382760.2:c.246C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  hgvsc: ENST00000415388.1:c.105-1878C>T
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  hgvsc: ENST00000413389.2:c.73-1878C>T
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsc: ENST00000326010.5:c.246C>T
  hgvsp: ENST00000326010.5:c.246C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16297
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7833
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3586
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26706
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13367
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2572
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2118
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8426
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33683
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1091
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7788
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro82Pro
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

22-24896223-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24896223
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24896223
    reference: chr 22
allele count: 2
allele frequency: 1.662151156026129e-5
allele num: 120326
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  hgvsc: ENST00000413389.2:c.73-1871G>A
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsc: ENST00000326010.5:c.253G>A
  hgvsp: ENSP00000324343.5:p.Ala85Thr
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsc: ENST00000382760.2:c.253G>A
  hgvsp: ENSP00000372208.2:p.Ala85Thr
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  hgvsc: ENST00000415388.1:c.105-1871G>A
  variant of: http://identifiers.org/hgnc/16297
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13336
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7808
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26694
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2108
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2556
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8381
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala85Thr
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/22-24896224-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24896224
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24896224
    reference: chr 22
allele count: 167
allele frequency: 1.388011569533562e-3
allele num: 120316
alternate allele: A
annotation: Annotation
  canonical: true
  clinical significance: not_provided&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsc: ENST00000326010.5:c.254C>A
  hgvsp: ENSP00000324343.5:p.Ala85Glu
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  hgvsc: ENST00000415388.1:c.105-1870C>A
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  hgvsc: ENST00000413389.2:c.73-1870C>A
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsc: ENST00000382760.2:c.254C>A
  hgvsp: ENSP00000372208.2:p.Ala85Glu
  variant of: http://identifiers.org/hgnc/16297
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 5.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 6.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7798
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26692
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3557
  bin: 3.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 4.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 6.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 7.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 5.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 13322
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 9.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 814
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2099
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33640
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2558
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7833
  bin: 9.75e1
  variant carriers: 165
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3154
  bin: 7.75e1
  variant carriers: 1
hgvs: p.Ala85Glu
num of homozygotes: 2
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

22-24896224-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24896224
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24896224
    reference: chr 22
allele count: 1
allele frequency: 8.311446524153063e-6
allele num: 120316
alternate allele: T
annotation: Annotation
  canonical: true
  clinical significance: not_provided&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsc: ENST00000326010.5:c.254C>T
  hgvsp: ENSP00000324343.5:p.Ala85Val
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsc: ENST00000382760.2:c.254C>T
  hgvsp: ENSP00000372208.2:p.Ala85Val
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  hgvsc: ENST00000413389.2:c.73-1870C>T
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  hgvsc: ENST00000415388.1:c.105-1870C>T
  variant of: http://identifiers.org/hgnc/16297
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13322
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26692
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7798
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3557
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7833
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33640
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3154
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2099
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 814
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala85Val
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum

22-24896229-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24896229
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24896229
    reference: chr 22
allele count: 1
allele frequency: 8.320713584396998e-6
allele num: 120182
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsc: ENST00000326010.5:c.259G>C
  hgvsp: ENSP00000324343.5:p.Ala87Pro
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsc: ENST00000382760.2:c.259G>C
  hgvsp: ENSP00000372208.2:p.Ala87Pro
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  hgvsc: ENST00000415388.1:c.105-1865G>C
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  hgvsc: ENST00000413389.2:c.73-1865G>C
  variant of: http://identifiers.org/hgnc/16297
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3548
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7749
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26705
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13340
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2566
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8381
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 864
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3154
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33612
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala87Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: African
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/22-24896230-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24896230
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24896230
    reference: chr 22
allele count: 1
allele frequency: 8.321129010784183e-6
allele num: 120176
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsc: ENST00000326010.5:c.260C>A
  hgvsp: ENSP00000324343.5:p.Ala87Asp
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsc: ENST00000382760.2:c.260C>A
  hgvsp: ENSP00000372208.2:p.Ala87Asp
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  hgvsc: ENST00000415388.1:c.105-1864C>A
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  hgvsc: ENST00000413389.2:c.73-1864C>A
  variant of: http://identifiers.org/hgnc/16297
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7749
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26699
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13341
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3547
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7672
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33616
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2092
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3145
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8371
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2560
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala87Asp
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

22-24896231-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24896231
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24896231
    reference: chr 22
allele count: 2
allele frequency: 1.664696775482346e-5
allele num: 120142
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  hgvsc: ENST00000415388.1:c.105-1863C>T
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  hgvsc: ENST00000413389.2:c.73-1863C>T
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsc: ENST00000326010.5:c.261C>T
  hgvsp: ENST00000326010.5:c.261C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsc: ENST00000382760.2:c.261C>T
  hgvsp: ENST00000382760.2:c.261C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16297
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13325
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7735
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3530
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26718
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33615
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7673
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8369
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2090
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala87Ala
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

22-24896233-CTG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24896233
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24896231
    reference: chr 22
allele count: 1
allele frequency: 8.326533331112925e-6
allele num: 120098
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  hgvsc: ENST00000413389.2:c.73-1858_73-1857delTG
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsc: ENST00000326010.5:c.266_267delTG
  hgvsp: ENSP00000324343.5:p.Val89GlyfsTer9
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsc: ENST00000382760.2:c.266_267delTG
  hgvsp: ENSP00000372208.2:p.Val89GlyfsTer9
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  hgvsc: ENST00000415388.1:c.105-1858_105-1857delTG
  variant of: http://identifiers.org/hgnc/16297
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7714
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13312
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3523
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26719
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2086
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33602
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7663
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3136
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 806
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val89GlyfsTer9
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: CTG
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

22-24896234-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24896234
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24896234
    reference: chr 22
allele count: 2
allele frequency: 1.665528555487084e-5
allele num: 120082
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsc: ENST00000326010.5:c.264T>G
  hgvsp: ENST00000326010.5:c.264T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  hgvsc: ENST00000415388.1:c.105-1860T>G
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsc: ENST00000382760.2:c.264T>G
  hgvsp: ENST00000382760.2:c.264T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  hgvsc: ENST00000413389.2:c.73-1860T>G
  variant of: http://identifiers.org/hgnc/16297
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13301
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26726
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3516
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7701
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7662
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2555
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33603
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8358
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2086
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3133
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro88Pro
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

22-24896239-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24896239
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24896239
    reference: chr 22
allele count: 1
allele frequency: 8.340283569641367e-6
allele num: 119900
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsc: ENST00000382760.2:c.269C>T
  hgvsp: ENSP00000372208.2:p.Ala90Val
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  hgvsc: ENST00000413389.2:c.73-1855C>T
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  hgvsc: ENST00000415388.1:c.105-1855C>T
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsc: ENST00000326010.5:c.269C>T
  hgvsp: ENSP00000324343.5:p.Ala90Val
  variant of: http://identifiers.org/hgnc/16297
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26648
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7643
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3516
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13248
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33492
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2075
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8333
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3113
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2546
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala90Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

22-24896241-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24896241
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24896241
    reference: chr 22
allele count: 3
allele frequency: 2.503922812406103e-5
allele num: 119812
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsc: ENST00000326010.5:c.271G>A
  hgvsp: ENSP00000324343.5:p.Glu91Lys
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsc: ENST00000382760.2:c.271G>A
  hgvsp: ENSP00000372208.2:p.Glu91Lys
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  hgvsc: ENST00000415388.1:c.105-1853G>A
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  hgvsc: ENST00000413389.2:c.73-1853G>A
  variant of: http://identifiers.org/hgnc/16297
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13225
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26608
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7626
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3516
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3114
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7651
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33417
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2538
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8307
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Glu91Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

22-24896243-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24896243
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24896243
    reference: chr 22
allele count: 4
allele frequency: 3.341631718768275e-5
allele num: 119702
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  hgvsc: ENST00000415388.1:c.105-1851A>G
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsc: ENST00000382760.2:c.273A>G
  hgvsp: ENST00000382760.2:c.273A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsc: ENST00000326010.5:c.273A>G
  hgvsp: ENST00000326010.5:c.273A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  hgvsc: ENST00000413389.2:c.73-1851A>G
  variant of: http://identifiers.org/hgnc/16297
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3506
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13186
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7577
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26527
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1058
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8266
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33211
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1177
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu91Glu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

22-24896245-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24896245
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24896245
    reference: chr 22
allele count: 1
allele frequency: 8.353939717970996e-6
allele num: 119704
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  hgvsc: ENST00000415388.1:c.105-1849A>G
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsc: ENST00000326010.5:c.275A>G
  hgvsp: ENSP00000324343.5:p.Gln92Arg
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  hgvsc: ENST00000413389.2:c.73-1849A>G
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsc: ENST00000382760.2:c.275A>G
  hgvsp: ENSP00000372208.2:p.Gln92Arg
  variant of: http://identifiers.org/hgnc/16297
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13161
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3505
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7593
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26535
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3104
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1198
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33314
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1057
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2525
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8260
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gln92Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD

22-24896256-CTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24896256
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24896254
    reference: chr 22
allele count: 3
allele frequency: 2.518172813806302e-5
allele num: 119134
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  hgvsc: ENST00000413389.2:c.73-1835_73-1834delTT
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsc: ENST00000382760.2:c.276+13_276+14delTT
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  hgvsc: ENST00000415388.1:c.105-1835_105-1834delTT
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsc: ENST00000326010.5:c.276+13_276+14delTT
  variant of: http://identifiers.org/hgnc/16297
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7536
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25999
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12847
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1561
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8045
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2464
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32563
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7636
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1048
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: CTT
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD

22-24896263-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24896263
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24896263
    reference: chr 22
allele count: 1
allele frequency: 8.422187410514259e-6
allele num: 118734
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsc: ENST00000382760.2:c.276+17C>T
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  hgvsc: ENST00000415388.1:c.105-1831C>T
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsc: ENST00000326010.5:c.276+17C>T
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  hgvsc: ENST00000413389.2:c.73-1831C>T
  variant of: http://identifiers.org/hgnc/16297
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12477
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7476
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25227
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3399
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1958
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31539
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7629
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2396
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1979
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2971
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

22-24896265-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24896265
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24896265
    reference: chr 22
allele count: 1
allele frequency: 8.428434165500733e-6
allele num: 118646
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsc: ENST00000326010.5:c.276+19A>G
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  hgvsc: ENST00000413389.2:c.73-1829A>G
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  hgvsc: ENST00000415388.1:c.105-1829A>G
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsc: ENST00000382760.2:c.276+19A>G
  variant of: http://identifiers.org/hgnc/16297
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24980
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12297
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2378
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7389
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3378
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1030
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2374
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7778
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7625
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2942
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1954
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ

http://identifiers.org/exac.variant/22-24896267-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24896267
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24896267
    reference: chr 22
allele count: 1
allele frequency: 8.435686327439601e-6
allele num: 118544
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  hgvsc: ENST00000413389.2:c.73-1827A>C
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsc: ENST00000382760.2:c.276+21A>C
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsc: ENST00000326010.5:c.276+21A>C
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  hgvsc: ENST00000415388.1:c.105-1827A>C
  variant of: http://identifiers.org/hgnc/16297
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7336
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2686
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3366
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24631
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12149
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2355
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30724
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7738
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7619
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

22-24896273-TACAC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24896273
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24896269
    reference: chr 22
allele count: 1
allele frequency: 8.454514710855598e-6
allele num: 118280
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  hgvsc: ENST00000415388.1:c.105-1819_105-1816delCACA
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsc: ENST00000382760.2:c.276+29_276+32delCACA
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  hgvsc: ENST00000413389.2:c.73-1819_73-1816delCACA
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsc: ENST00000326010.5:c.276+29_276+32delCACA
  variant of: http://identifiers.org/hgnc/16297
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2365
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22965
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7101
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3312
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11570
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3793
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7271
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1094
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2852
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1642
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28511
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1909
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1162
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2669
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: African
reference allele: TACAC
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP
site quality: MQRankSum

22-24896281-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24896281
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24896281
    reference: chr 22
allele count: 4
allele frequency: 3.39172757644106e-5
allele num: 117934
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsc: ENST00000326010.5:c.276+35C>T
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  hgvsc: ENST00000415388.1:c.105-1813C>T
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  hgvsc: ENST00000413389.2:c.73-1813C>T
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsc: ENST00000382760.2:c.276+35C>T
  variant of: http://identifiers.org/hgnc/16297
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19231
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 574
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 7.5e0
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genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3177
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6694
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1018
  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 191
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 342
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2868
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 3157
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 2173
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1855
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1101
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 23223
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 1740
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 1123
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3060
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/22-24896282-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24896282
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24896282
    reference: chr 22
allele count: 1
allele frequency: 8.480757161999423e-6
allele num: 117914
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  hgvsc: ENST00000413389.2:c.73-1812A>C
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsc: ENST00000382760.2:c.276+36A>C
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsc: ENST00000326010.5:c.276+36A>C
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  hgvsc: ENST00000415388.1:c.105-1812A>C
  variant of: http://identifiers.org/hgnc/16297
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18633
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3147
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7560
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6670
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9817
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6630
  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3194
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1018
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2170
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 196
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genotype quality: GenotypeQuality
  all individuals: 1849
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2718
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

22-24896284-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24896284
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24896284
    reference: chr 22
allele count: 1
allele frequency: 8.489252606200551e-6
allele num: 117796
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  hgvsc: ENST00000415388.1:c.105-1810G>C
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  hgvsc: ENST00000413389.2:c.73-1810G>C
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsc: ENST00000326010.5:c.276+38G>C
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsc: ENST00000382760.2:c.276+38G>C
  variant of: http://identifiers.org/hgnc/16297
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8874
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3104
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17600
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9347
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6836
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2671
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1840
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

22-24896286-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24896286
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24896286
    reference: chr 22
allele count: 5
allele frequency: 4.249460318539545e-5
allele num: 117662
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsc: ENST00000382760.2:c.276+40T>C
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsc: ENST00000326010.5:c.276+40T>C
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  hgvsc: ENST00000415388.1:c.105-1808T>C
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  hgvsc: ENST00000413389.2:c.73-1808T>C
  variant of: http://identifiers.org/hgnc/16297
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7511
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
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genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 5
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2074
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2545
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2027
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/22-24898043-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24898043
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24898043
    reference: chr 22
allele count: 2
allele frequency: 1.647690761397901e-5
allele num: 121382
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  hgvsc: ENST00000413389.2:c.73-51A>C
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  hgvsc: ENST00000415388.1:c.105-51A>C
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsc: ENST00000326010.5:c.277-51A>C
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsc: ENST00000382760.2:c.277-51A>C
  variant of: http://identifiers.org/hgnc/16297
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7825
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6250
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3533
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4715
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2655
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5786
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3620
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5658
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4701
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1964
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1200
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1537
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1718
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ

22-24898046-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24898046
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24898046
    reference: chr 22
allele count: 4
allele frequency: 3.295435821387378e-5
allele num: 121380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  hgvsc: ENST00000413389.2:c.73-48G>A
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  hgvsc: ENST00000415388.1:c.105-48G>A
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsc: ENST00000382760.2:c.277-48G>A
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsc: ENST00000326010.5:c.277-48G>A
  variant of: http://identifiers.org/hgnc/16297
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5659
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4715
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3629
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4700
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6250
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2490
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7825
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5789
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3533
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2655
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1962
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50264
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1250
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1134
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1374
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum

22-24898047-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24898047
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24898047
    reference: chr 22
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  hgvsc: ENST00000415388.1:c.105-47C>T
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsc: ENST00000382760.2:c.277-47C>T
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  hgvsc: ENST00000413389.2:c.73-47C>T
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsc: ENST00000326010.5:c.277-47C>T
  variant of: http://identifiers.org/hgnc/16297
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6115
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5659
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4715
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3641
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2492
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6249
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4697
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7825
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2654
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5792
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3533
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1531
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1449
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1135
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50264
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1962
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1258
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum

22-24898055-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24898055
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24898055
    reference: chr 22
allele count: 2
allele frequency: 1.64766361299677e-5
allele num: 121384
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  hgvsc: ENST00000413389.2:c.73-39A>G
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  hgvsc: ENST00000415388.1:c.105-39A>G
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsc: ENST00000326010.5:c.277-39A>G
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsc: ENST00000382760.2:c.277-39A>G
  variant of: http://identifiers.org/hgnc/16297
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5801
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2655
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4709
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7825
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2550
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3533
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5659
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4715
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3681
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6248
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1281
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1731
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1554
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1724
  bin: 6.25e1
  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: 1142
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50275
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 806
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

22-24898056-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24898056
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24898056
    reference: chr 22
allele count: 3
allele frequency: 2.471454698235381e-5
allele num: 121386
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  hgvsc: ENST00000413389.2:c.73-38T>A
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsc: ENST00000326010.5:c.277-38T>A
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  hgvsc: ENST00000415388.1:c.105-38T>A
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsc: ENST00000382760.2:c.277-38T>A
  variant of: http://identifiers.org/hgnc/16297
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4710
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3532
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2654
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5800
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7826
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3682
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4715
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6249
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5659
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1745
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  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: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1731
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1975
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50275
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1284
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1142
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 806
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

22-24898057-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24898057
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24898057
    reference: chr 22
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  hgvsc: ENST00000413389.2:c.73-37A>G
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  hgvsc: ENST00000415388.1:c.105-37A>G
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsc: ENST00000326010.5:c.277-37A>G
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsc: ENST00000382760.2:c.277-37A>G
  variant of: http://identifiers.org/hgnc/16297
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4716
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2558
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3688
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5800
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3532
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6248
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7826
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5659
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2655
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4713
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1975
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50276
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1731
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/22-24898063-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24898063
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24898063
    reference: chr 22
allele count: 8
allele frequency: 6.590220113351786e-5
allele num: 121392
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  hgvsc: ENST00000415388.1:c.105-31A>C
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  hgvsc: ENST00000413389.2:c.73-31A>C
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsc: ENST00000382760.2:c.277-31A>C
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsc: ENST00000326010.5:c.277-31A>C
  variant of: http://identifiers.org/hgnc/16297
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2655
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4714
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3533
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6247
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7828
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5805
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5658
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3712
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4716
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1560
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1743
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1147
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1292
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1815
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50285
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/22-24898077-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24898077
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24898077
    reference: chr 22
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  hgvsc: ENST00000415388.1:c.105-17C>A
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  hgvsc: ENST00000413389.2:c.73-17C>A
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsc: ENST00000382760.2:c.277-17C>A
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsc: ENST00000326010.5:c.277-17C>A
  variant of: http://identifiers.org/hgnc/16297
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2598
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7829
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2656
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3720
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5810
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4720
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3532
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4718
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5657
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6247
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 814
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1565
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1978
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1151
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1748
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1852
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

22-24898090-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24898090
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24898090
    reference: chr 22
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  hgvsc: ENST00000415388.1:c.105-4T>G
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsc: ENST00000326010.5:c.277-4T>G
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsc: ENST00000382760.2:c.277-4T>G
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  hgvsc: ENST00000413389.2:c.73-4T>G
  variant of: http://identifiers.org/hgnc/16297
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4720
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3532
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5657
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6247
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4718
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3718
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5811
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7831
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2655
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1749
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50289
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1859
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1568
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1978
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1152
  bin: 8.75e1
  variant carriers: 0
hgvs: c.277-4T>G
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

22-24898092-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24898092
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24898092
    reference: chr 22
allele count: 3
allele frequency: 2.470966147763776e-5
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsc: ENST00000326010.5:c.277-2A>G
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  hgvsc: ENST00000415388.1:c.105-2A>G
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  hgvsc: ENST00000413389.2:c.73-2A>G
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsc: ENST00000382760.2:c.277-2A>G
  variant of: http://identifiers.org/hgnc/16297
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3719
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7832
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6247
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4718
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5811
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2656
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3532
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5657
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4717
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1568
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1749
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
hgvs: c.277-2A>G
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

22-24898096-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24898096
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24898096
    reference: chr 22
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsc: ENST00000326010.5:c.279C>T
  hgvsp: ENST00000326010.5:c.279C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  hgvsc: ENST00000413389.2:c.75C>T
  hgvsp: ENST00000413389.2:c.75C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsc: ENST00000382760.2:c.279C>T
  hgvsp: ENST00000382760.2:c.279C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  hgvsc: ENST00000415388.1:c.107C>T
  hgvsp: ENSP00000400684.1:p.Ser36Phe
  variant of: http://identifiers.org/hgnc/16297
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7832
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2655
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3719
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5810
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5657
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3532
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4719
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4717
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6247
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1568
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50287
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1978
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1750
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser36Phe
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/22-24898103-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24898103
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24898103
    reference: chr 22
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  hgvsc: ENST00000415388.1:c.114C>A
  hgvsp: ENST00000415388.1:c.114C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsc: ENST00000382760.2:c.286C>A
  hgvsp: ENSP00000372208.2:p.Leu96Ile
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsc: ENST00000326010.5:c.286C>A
  hgvsp: ENSP00000324343.5:p.Leu96Ile
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  hgvsc: ENST00000413389.2:c.82C>A
  hgvsp: ENSP00000406057.2:p.Leu28Ile
  variant of: http://identifiers.org/hgnc/16297
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4717
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4719
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7832
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3532
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5657
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6246
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5811
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2655
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3719
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1978
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1568
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu96Ile
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

22-24898107-A-ATAGACGCATAAAGGCTATCG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24898107
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24898127
    reference: chr 22
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: ATAGACGCATAAAGGCTATCG
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsp: ENSP00000324343.5:p.Glu105AspfsTer3
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsp: ENSP00000372208.2:p.Glu105AspfsTer3
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  hgvsp: ENSP00000406057.2:p.Glu37AspfsTer3
  variant of: http://identifiers.org/hgnc/16297
canonical: false
consequence: stop gained
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 5811
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7832
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4719
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2655
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3532
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3719
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6246
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4717
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5657
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1978
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50288
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1568
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1859
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

22-24898108-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24898108
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24898108
    reference: chr 22
allele count: 3
allele frequency: 2.470925443942938e-5
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsc: ENST00000326010.5:c.291T>C
  hgvsp: ENST00000326010.5:c.291T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsc: ENST00000382760.2:c.291T>C
  hgvsp: ENST00000382760.2:c.291T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  hgvsc: ENST00000413389.2:c.87T>C
  hgvsp: ENST00000413389.2:c.87T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  hgvsc: ENST00000415388.1:c.119T>C
  hgvsp: ENSP00000400684.1:p.Ile40Thr
  variant of: http://identifiers.org/hgnc/16297
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6244
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2655
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7835
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3532
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3719
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4719
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5657
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4716
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5811
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  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: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1750
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1978
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1859
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1568
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ile40Thr
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

22-24898112-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24898112
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24898112
    reference: chr 22
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsc: ENST00000326010.5:c.295C>T
  hgvsp: ENSP00000324343.5:p.Arg99Cys
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  hgvsc: ENST00000415388.1:c.123C>T
  hgvsp: ENST00000415388.1:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  hgvsc: ENST00000413389.2:c.91C>T
  hgvsp: ENSP00000406057.2:p.Arg31Cys
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsc: ENST00000382760.2:c.295C>T
  hgvsp: ENSP00000372208.2:p.Arg99Cys
  variant of: http://identifiers.org/hgnc/16297
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3532
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2656
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6244
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5657
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3719
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5811
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4716
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4719
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1955
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7833
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 50288
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1568
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1978
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1750
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1859
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  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: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg99Cys
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD

22-24898113-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24898113
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24898113
    reference: chr 22
allele count: 3
allele frequency: 2.470925443942938e-5
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsc: ENST00000382760.2:c.296G>A
  hgvsp: ENSP00000372208.2:p.Arg99His
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  hgvsc: ENST00000413389.2:c.92G>A
  hgvsp: ENSP00000406057.2:p.Arg31His
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  hgvsc: ENST00000415388.1:c.124G>A
  hgvsp: ENSP00000400684.1:p.Ala42Thr
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsc: ENST00000326010.5:c.296G>A
  hgvsp: ENSP00000324343.5:p.Arg99His
  variant of: http://identifiers.org/hgnc/16297
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2656
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5657
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1955
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4716
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6244
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7835
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4719
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3719
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3532
  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: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1978
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1859
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1568
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1750
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg99His
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP

22-24898115-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24898115
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24898115
    reference: chr 22
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsc: ENST00000382760.2:c.298A>G
  hgvsp: ENSP00000372208.2:p.Ile100Val
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  hgvsc: ENST00000413389.2:c.94A>G
  hgvsp: ENSP00000406057.2:p.Ile32Val
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsc: ENST00000326010.5:c.298A>G
  hgvsp: ENSP00000324343.5:p.Ile100Val
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  hgvsc: ENST00000415388.1:c.126A>G
  hgvsp: ENST00000415388.1:c.126A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16297
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4719
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2656
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7834
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3719
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4716
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3532
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5659
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6243
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1955
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5809
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1750
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50289
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1978
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1568
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1859
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ile100Val
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

22-24898120-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24898120
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24898120
    reference: chr 22
allele count: 5
allele frequency: 4.11820907323823e-5
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  hgvsc: ENST00000415388.1:c.*2G>C
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsc: ENST00000326010.5:c.303G>C
  hgvsp: ENSP00000324343.5:p.Lys101Asn
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  hgvsc: ENST00000413389.2:c.99G>C
  hgvsp: ENSP00000406057.2:p.Lys33Asn
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsc: ENST00000382760.2:c.303G>C
  hgvsp: ENSP00000372208.2:p.Lys101Asn
  variant of: http://identifiers.org/hgnc/16297
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3717
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5808
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2656
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4717
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6243
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5659
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3532
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1955
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7838
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4719
  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: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1858
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1750
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1977
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50292
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1567
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Lys101Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

http://identifiers.org/exac.variant/22-24898124-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24898124
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24898124
    reference: chr 22
allele count: 11
allele frequency: 9.060059961124106e-5
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsc: ENST00000326010.5:c.307A>C
  hgvsp: ENSP00000324343.5:p.Ile103Leu
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  hgvsc: ENST00000415388.1:c.*6A>C
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsc: ENST00000382760.2:c.307A>C
  hgvsp: ENSP00000372208.2:p.Ile103Leu
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  hgvsc: ENST00000413389.2:c.103A>C
  hgvsp: ENSP00000406057.2:p.Ile35Leu
  variant of: http://identifiers.org/hgnc/16297
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2656
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4719
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6243
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4716
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5804
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3532
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7844
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1955
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3717
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5659
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1749
  bin: 8.25e1
  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: 1296
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50294
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1566
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ile103Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

22-24898125-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24898125
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24898125
    reference: chr 22
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  hgvsc: ENST00000413389.2:c.104T>C
  hgvsp: ENSP00000406057.2:p.Ile35Thr
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsc: ENST00000382760.2:c.308T>C
  hgvsp: ENSP00000372208.2:p.Ile103Thr
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  hgvsc: ENST00000415388.1:c.*7T>C
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsc: ENST00000326010.5:c.308T>C
  hgvsp: ENSP00000324343.5:p.Ile103Thr
  variant of: http://identifiers.org/hgnc/16297
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1955
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3533
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4717
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3718
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5805
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6244
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7834
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2657
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5662
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4719
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1860
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1978
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50290
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1566
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ile103Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/22-24898126-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24898126
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24898126
    reference: chr 22
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsc: ENST00000382760.2:c.309C>A
  hgvsp: ENST00000382760.2:c.309C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsc: ENST00000326010.5:c.309C>A
  hgvsp: ENST00000326010.5:c.309C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  hgvsc: ENST00000413389.2:c.105C>A
  hgvsp: ENST00000413389.2:c.105C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  hgvsc: ENST00000415388.1:c.*8C>A
  variant of: http://identifiers.org/hgnc/16297
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6244
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7837
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3719
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2657
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5662
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3533
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4719
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5802
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4717
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  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: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1298
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1750
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1566
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1152
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50289
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1978
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ile103Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD

22-24898126-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24898126
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 24898126
    reference: chr 22
allele count: 3
allele frequency: 2.470925443942938e-5
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000400684
  ensembl transcript: ENST00000415388
  gene symbol: UPB1
  hgvsc: ENST00000415388.1:c.*8C>T
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000406057
  ensembl transcript: ENST00000413389
  gene symbol: UPB1
  hgvsc: ENST00000413389.2:c.105C>T
  hgvsp: ENST00000413389.2:c.105C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000372208
  ensembl transcript: ENST00000382760
  gene symbol: UPB1
  hgvsc: ENST00000382760.2:c.309C>T
  hgvsp: ENST00000382760.2:c.309C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16297
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100024
  ensembl protein: ENSP00000324343
  ensembl transcript: ENST00000326010
  gene symbol: UPB1
  hgvsc: ENST00000326010.5:c.309C>T
  hgvsp: ENST00000326010.5:c.309C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16297
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5802
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3719
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4719
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4717
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7837
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3533
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5662
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6244
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2657
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  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: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50289
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1750
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1566
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1978
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ile103Ile
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 51
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7892
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 3215
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.658746797111577e-4
allele num: 8586
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66470
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: 16496
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.25e0

VQSLOD
type: SiteQuality
SIO_000300: 1.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 9.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

DP
type: SiteQuality
SIO_000300: 2.000354e6

QD
type: SiteQuality
SIO_000300: 9.44e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.254e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

GenotypeQuality
all individuals: 834
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8531
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1098
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2140
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
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: 8588
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.008514094888535e-5
allele num: 66478
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.977e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.51e-1

FS
type: SiteQuality
SIO_000300: 9.62e-1

DP
type: SiteQuality
SIO_000300: 2.00023e6

VQSLOD
type: SiteQuality
SIO_000300: 9.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.32e-1

QD
type: SiteQuality
SIO_000300: 1.065e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.264e0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2622
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1097
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.007971123477215e-5
allele num: 66490
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.31e-1

QD
type: SiteQuality
SIO_000300: 1.032e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 2.262e0

VQSLOD
type: SiteQuality
SIO_000300: 3.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.69e-1

DP
type: SiteQuality
SIO_000300: 2.00063e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.553e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.39e0

GenotypeQuality
all individuals: 36
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7888
bin: 9.75e1
variant carriers: 3

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

GenotypeQuality
all individuals: 33962
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.93012931866435e-4
allele num: 10362
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503623733197005e-5
allele num: 66506
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: 16494
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.00109e6

MQRankSum
type: SiteQuality
SIO_000300: 1.86e-1

QD
type: SiteQuality
SIO_000300: 1.249e1

FS
type: SiteQuality
SIO_000300: 5.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.96e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.47e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.47e0

GenotypeQuality
all individuals: 209
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3221
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66506
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.163873370577281e-4
allele num: 8592
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
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: 2.000773e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.131e0

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

VQSLOD
type: SiteQuality
SIO_000300: 8.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.43e-1

QD
type: SiteQuality
SIO_000300: 1.383e1

MQ
type: SiteQuality
SIO_000300: 6.001e1

FS
type: SiteQuality
SIO_000300: 3.863e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.67e-1

GenotypeQuality
all individuals: 24
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7885
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 834
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2625
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66510
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.164144353899884e-4
allele num: 8590
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.982e1

QD
type: SiteQuality
SIO_000300: 1.3e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 7.38e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.76e0

MQRankSum
type: SiteQuality
SIO_000300: -3.77e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.66e0

DP
type: SiteQuality
SIO_000300: 2.000894e6

GenotypeQuality
all individuals: 207
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2140
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2622
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.510464277122925e-5
allele num: 66512
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
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: 11562
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.97e-1

FS
type: SiteQuality
SIO_000300: 4.067e0

MQ
type: SiteQuality
SIO_000300: 5.988e1

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.04e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.620000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.114e1

DP
type: SiteQuality
SIO_000300: 2.001073e6

GenotypeQuality
all individuals: 21
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7881
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1098
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503171692270691e-5
allele num: 66526
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.16333178222429e-4
allele num: 8596
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.656237929702588e-5
allele num: 10356
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.968e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

VQSLOD
type: SiteQuality
SIO_000300: 1.98e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.45e0

DP
type: SiteQuality
SIO_000300: 2.001165e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.043e0

QD
type: SiteQuality
SIO_000300: 1.048e1

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

GenotypeQuality
all individuals: 3219
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2624
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7880
bin: 9.75e1
variant carriers: 4

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66534
num of homozygotes: 0

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

East Asian
type: Population
allele count: 4
allele frequency: 4.647920055775041e-4
allele num: 8606
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

FS
type: SiteQuality
SIO_000300: 5.91e0

DP
type: SiteQuality
SIO_000300: 2.001402e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.56e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.94e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.19e-1

QD
type: SiteQuality
SIO_000300: 1.362e1

GenotypeQuality
all individuals: 34051
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3218
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2140
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 17
allele frequency: 1.469571230982019e-3
allele num: 11568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 29
allele frequency: 4.358280733393448e-4
allele num: 66540
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.650646593321752e-5
allele num: 10362
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.47e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.94e-1

QD
type: SiteQuality
SIO_000300: 1.3e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.003968e6

VQSLOD
type: SiteQuality
SIO_000300: 5.51e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.26e0

GenotypeQuality
all individuals: 2144
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3220
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2625
bin: 7.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502855425308085e-5
allele num: 66540
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.731e1

VQSLOD
type: SiteQuality
SIO_000300: -8.388e-1

FS
type: SiteQuality
SIO_000300: 1.6728e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 9.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.29e0

MQ
type: SiteQuality
SIO_000300: 6.003e1

DP
type: SiteQuality
SIO_000300: 2.000223e6

GenotypeQuality
all individuals: 34093
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 832
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 3.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.652015919709292e-5
allele num: 11558
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66570
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.974e1

FS
type: SiteQuality
SIO_000300: 4.364e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.261e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.277e0

MQRankSum
type: SiteQuality
SIO_000300: 2.55e-1

QD
type: SiteQuality
SIO_000300: 1.187e1

DP
type: SiteQuality
SIO_000300: 1.999862e6

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

GenotypeQuality
all individuals: 832
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.75e1
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: 0
allele frequency: 0.0e0
allele num: 66538
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.062810719049351e-5
allele num: 16494
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -9.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.14e0

FS
type: SiteQuality
SIO_000300: 1.165e0

DP
type: SiteQuality
SIO_000300: 1.998874e6

QD
type: SiteQuality
SIO_000300: 1.302e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.19e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

GenotypeQuality
all individuals: 1099
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 832
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2620
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7838
bin: 9.75e1
variant carriers: 9

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.052030418708107e-4
allele num: 66538
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.656509695290859e-5
allele num: 11552
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
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: 8616
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.062810719049351e-5
allele num: 16494
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.971e1

QD
type: SiteQuality
SIO_000300: 1.302e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e-1

FS
type: SiteQuality
SIO_000300: 1.165e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.14e0

MQRankSum
type: SiteQuality
SIO_000300: -7.3e-2

DP
type: SiteQuality
SIO_000300: 1.998874e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.9e-2

GenotypeQuality
all individuals: 8493
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7829
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 832
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.731601731601732e-4
allele num: 11550
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66540
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.41e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.998194e6

VQSLOD
type: SiteQuality
SIO_000300: 1.83e-1

QD
type: SiteQuality
SIO_000300: 1.359e1

MQ
type: SiteQuality
SIO_000300: 5.984e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

FS
type: SiteQuality
SIO_000300: 4.57e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.007e0

GenotypeQuality
all individuals: 43
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2616
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 832
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.661008141347653e-5
allele num: 11546
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10322
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66532
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.568e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.712e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

QD
type: SiteQuality
SIO_000300: 1.401e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.3e-1

FS
type: SiteQuality
SIO_000300: 1.7555e1

DP
type: SiteQuality
SIO_000300: 1.997878e6

GenotypeQuality
all individuals: 35
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 832
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7826
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1097
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66522
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.695559433779329e-5
allele num: 10314
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.64e-1

MQ
type: SiteQuality
SIO_000300: 5.914e1

FS
type: SiteQuality
SIO_000300: 3.078e0

VQSLOD
type: SiteQuality
SIO_000300: 3.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.626e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.197e0

DP
type: SiteQuality
SIO_000300: 1.997467e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.79e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.01e0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2134
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66518
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.661008141347653e-5
allele num: 11546
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.997313e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.651e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

FS
type: SiteQuality
SIO_000300: 1.881e0

QD
type: SiteQuality
SIO_000300: 1.103e1

VQSLOD
type: SiteQuality
SIO_000300: 2.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.699e0

MQRankSum
type: SiteQuality
SIO_000300: 1.61e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.67e-1

GenotypeQuality
all individuals: 2609
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2135
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33986
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.007699711260828e-5
allele num: 66496
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10298
num of homozygotes: 0

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.986e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.254e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.34e-1

QD
type: SiteQuality
SIO_000300: 1.037e1

VQSLOD
type: SiteQuality
SIO_000300: 2.03e0

FS
type: SiteQuality
SIO_000300: 1.769e0

DP
type: SiteQuality
SIO_000300: 1.996594e6

GenotypeQuality
all individuals: 34006
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1096
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2134
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10296
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.16198001394376e-4
allele num: 8606
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66498
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

DP
type: SiteQuality
SIO_000300: 1.996396e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 6.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.79e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.85e-1

MQ
type: SiteQuality
SIO_000300: 5.949e1

QD
type: SiteQuality
SIO_000300: 1.223e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.62e-1

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

GenotypeQuality
all individuals: 2133
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7816
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 45
bin: 3.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503895088278642e-5
allele num: 66494
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10294
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.98e0

FS
type: SiteQuality
SIO_000300: 3.212e0

MQRankSum
type: SiteQuality
SIO_000300: 2.23e-1

DP
type: SiteQuality
SIO_000300: 1.996334e6

QD
type: SiteQuality
SIO_000300: 1.076e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2604
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7816
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 832
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34007
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.426889940541196e-4
allele num: 16482
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10284
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 4.31e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.12e-1

DP
type: SiteQuality
SIO_000300: 1.996521e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.37e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.33e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.5e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.291e1

GenotypeQuality
all individuals: 28
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 31
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variant carriers: 0

GenotypeQuality
all individuals: 34007
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2604
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.05275822655357e-4
allele num: 66492
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10284
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.37e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.31e0

QD
type: SiteQuality
SIO_000300: 1.291e1

MQ
type: SiteQuality
SIO_000300: 5.96e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.12e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.33e-1

DP
type: SiteQuality
SIO_000300: 1.996521e6

GenotypeQuality
all individuals: 26
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34025
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3192
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

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

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

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

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

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

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

QD
type: SiteQuality
SIO_000300: 7.72e0

MQ
type: SiteQuality
SIO_000300: 5.127e1

MQRankSum
type: SiteQuality
SIO_000300: -5.671e0

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.156e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.009e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.58e-1

DP
type: SiteQuality
SIO_000300: 1.995691e6

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 34004
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3192
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8470
bin: 6.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10284
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66480
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.671522719389525e-5
allele num: 11532
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 6.526e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

VQSLOD
type: SiteQuality
SIO_000300: 2.6e-1

DP
type: SiteQuality
SIO_000300: 1.995444e6

MQRankSum
type: SiteQuality
SIO_000300: -4.47e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.568e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.803e0

GenotypeQuality
all individuals: 2603
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10268
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504211793020457e-5
allele num: 66480
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -9.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.296e1

DP
type: SiteQuality
SIO_000300: 1.995209e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.2e-1

FS
type: SiteQuality
SIO_000300: 5.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.95e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.83e0

VQSLOD
type: SiteQuality
SIO_000300: 1.3e0

MQ
type: SiteQuality
SIO_000300: 5.364e1

GenotypeQuality
all individuals: 392
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8465
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504800312998465e-5
allele num: 66454
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10262
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.1e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

DP
type: SiteQuality
SIO_000300: 1.994896e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.831e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.2e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e0

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

QD
type: SiteQuality
SIO_000300: 1.319e1

MQ
type: SiteQuality
SIO_000300: 5.975e1

GenotypeQuality
all individuals: 59
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1095
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33955
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10262
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.068697657482704e-5
allele num: 16478
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.02880187799079e-5
allele num: 66454
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

FS
type: SiteQuality
SIO_000300: 1.831e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.2e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

DP
type: SiteQuality
SIO_000300: 1.994896e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.1e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

QD
type: SiteQuality
SIO_000300: 1.319e1

GenotypeQuality
all individuals: 2130
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7803
bin: 9.75e1
variant carriers: 4

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.019201251993861e-5
allele num: 66454
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10262
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.84e-1

FS
type: SiteQuality
SIO_000300: 4.136e0

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

MQRankSum
type: SiteQuality
SIO_000300: -1.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.5e-2

QD
type: SiteQuality
SIO_000300: 1.243e1

DP
type: SiteQuality
SIO_000300: 1.994437e6

MQ
type: SiteQuality
SIO_000300: 5.963e1

GenotypeQuality
all individuals: 7803
bin: 9.75e1
variant carriers: 15

GenotypeQuality
all individuals: 1091
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2595
bin: 7.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10248
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 4.251184258472003e-4
allele num: 16466
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.516439841021318e-5
allele num: 66424
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.343293954134816e-4
allele num: 11512
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.35e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.508e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.255e1

VQSLOD
type: SiteQuality
SIO_000300: 2.13e0

DP
type: SiteQuality
SIO_000300: 1.993577e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

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

GenotypeQuality
all individuals: 8438
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1091
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33783
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.79431929480901e-5
allele num: 10210
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66308
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16456
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.914e1

DP
type: SiteQuality
SIO_000300: 1.990071e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.72e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.943000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.87e-1

FS
type: SiteQuality
SIO_000300: 2.092e0

QD
type: SiteQuality
SIO_000300: 1.173e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.73e0

MQRankSum
type: SiteQuality
SIO_000300: -1.511e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 46
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3169
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.811616954474098e-5
allele num: 10192
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16454
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66228
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.62e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 6.97e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.57e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

FS
type: SiteQuality
SIO_000300: 1.2188e1

VQSLOD
type: SiteQuality
SIO_000300: -1.656e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.983e0

DP
type: SiteQuality
SIO_000300: 1.988649e6

GenotypeQuality
all individuals: 1089
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3161
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33627
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7780
bin: 9.75e1
variant carriers: 2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.216249087813184e-4
allele num: 16444
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66164
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10178
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.445e-1

QD
type: SiteQuality
SIO_000300: 1.076e1

FS
type: SiteQuality
SIO_000300: 9.617000000000001e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

MQRankSum
type: SiteQuality
SIO_000300: 5.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.986974e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.942e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.497e0

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

GenotypeQuality
all individuals: 8380
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

African
type: Population
allele count: 153
allele frequency: 1.503537735849057e-2
allele num: 10176
num of homozygotes: 2

Latino
type: Population
allele count: 10
allele frequency: 8.715356458079135e-4
allele num: 11474
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.534598990295958e-5
allele num: 66158
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.108647450110865e-3
allele num: 902
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16444
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.988434e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.35e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.852e0

FS
type: SiteQuality
SIO_000300: 1.243e0

QD
type: SiteQuality
SIO_000300: 1.266e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.16e0

GenotypeQuality
all individuals: 8380
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2558
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1084
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 770
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10176
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66158
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.081245439065921e-5
allele num: 16444
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.35e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.852e0

QD
type: SiteQuality
SIO_000300: 1.266e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.86e-1

DP
type: SiteQuality
SIO_000300: 1.988434e6

FS
type: SiteQuality
SIO_000300: 1.243e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.24e-1

GenotypeQuality
all individuals: 815
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2099
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1085
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7682
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513134003147319e-5
allele num: 66088
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11466
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16432
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10160
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.52e0

MQ
type: SiteQuality
SIO_000300: 5.879e1

DP
type: SiteQuality
SIO_000300: 1.980868e6

VQSLOD
type: SiteQuality
SIO_000300: -2.547e0

QD
type: SiteQuality
SIO_000300: 8.220000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.860000000000001e-1

FS
type: SiteQuality
SIO_000300: 1.042e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.84e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.879e0

GenotypeQuality
all individuals: 58
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1077
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 812
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16430
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10156
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51308821304282e-5
allele num: 66090
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.980749e6

VQSLOD
type: SiteQuality
SIO_000300: -1.807e0

FS
type: SiteQuality
SIO_000300: 7.275e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.251e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

QD
type: SiteQuality
SIO_000300: 5.58e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.48e-1

GenotypeQuality
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3144
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2559
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10154
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11462
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.027092477675193e-5
allele num: 66070
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16426
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.98e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.401e0

QD
type: SiteQuality
SIO_000300: 1.029e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 8.57e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.867e-1

DP
type: SiteQuality
SIO_000300: 1.979733e6

GenotypeQuality
all individuals: 1068
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2554
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8361
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11460
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16426
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10146
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514142087093453e-5
allele num: 66044
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.33e-1

QD
type: SiteQuality
SIO_000300: 1.53e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.825e0

VQSLOD
type: SiteQuality
SIO_000300: 2.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 3.084e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.9e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

DP
type: SiteQuality
SIO_000300: 1.978609e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.6e-1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1069
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 804
bin: 8.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.037667071688943e-4
allele num: 6584
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16426
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66030
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11460
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10144
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

QD
type: SiteQuality
SIO_000300: 1.36e1

VQSLOD
type: SiteQuality
SIO_000300: 5.55e-1

FS
type: SiteQuality
SIO_000300: 2.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.97e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

DP
type: SiteQuality
SIO_000300: 1.97791e6

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 64
bin: 7.5e0
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10106
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516622179082747e-5
allele num: 65936
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8524
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11444
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16416
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.885e0

VQSLOD
type: SiteQuality
SIO_000300: 6.97e-1

QD
type: SiteQuality
SIO_000300: 1.434e1

FS
type: SiteQuality
SIO_000300: 5.17e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.77e-1

DP
type: SiteQuality
SIO_000300: 1.974399e6

MQRankSum
type: SiteQuality
SIO_000300: 4.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2071
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.553734061930783e-5
allele num: 65880
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8520
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16406
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10096
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11440
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.972704e6

QD
type: SiteQuality
SIO_000300: 1.207e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 3.213e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.878e0

VQSLOD
type: SiteQuality
SIO_000300: 1.55e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.17e-1

GenotypeQuality
all individuals: 2066
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3112
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7651
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 2531
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16394
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.969829297340214e-4
allele num: 10076
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65828
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.1532e1

VQSLOD
type: SiteQuality
SIO_000300: -2.403e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.273e1

MQRankSum
type: SiteQuality
SIO_000300: 7.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.02e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

DP
type: SiteQuality
SIO_000300: 1.969564e6

GenotypeQuality
all individuals: 7646
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 66
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2060
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519018106695832e-5
allele num: 65832
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16394
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11430
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10074
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.289e0

FS
type: SiteQuality
SIO_000300: 5.683e0

QD
type: SiteQuality
SIO_000300: 1.232e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.83e-1

DP
type: SiteQuality
SIO_000300: 1.969175e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e0

MQ
type: SiteQuality
SIO_000300: 5.931e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.65e0

VQSLOD
type: SiteQuality
SIO_000300: 5.3e-2

GenotypeQuality
all individuals: 2025
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3036
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8472
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.833740831295844e-4
allele num: 16360
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9966
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65524
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.768e1

DP
type: SiteQuality
SIO_000300: 1.951645e6

MQ
type: SiteQuality
SIO_000300: 6.053e1

MQRankSum
type: SiteQuality
SIO_000300: 1.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 7.349e0

VQSLOD
type: SiteQuality
SIO_000300: 1.55e0

GenotypeQuality
all individuals: 658
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7839
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.531534291052777e-5
allele num: 65294
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9882
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16334
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8454
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11358
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.725e0

VQSLOD
type: SiteQuality
SIO_000300: 3.2e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.5e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.5e-2

QD
type: SiteQuality
SIO_000300: 1.067e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.09e-1

DP
type: SiteQuality
SIO_000300: 1.930732e6

GenotypeQuality
all individuals: 31199
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2112
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11350
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9872
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.532661006038684e-5
allele num: 65246
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16322
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8446
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.922085e6

MQRankSum
type: SiteQuality
SIO_000300: -2.009e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.1e-1

QD
type: SiteQuality
SIO_000300: 1.379e1

VQSLOD
type: SiteQuality
SIO_000300: -9.776e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

GenotypeQuality
all individuals: 96
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1936
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2905
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6522
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65192
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11346
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16314
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9854
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.185677021579322e-4
allele num: 8434
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.561e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

DP
type: SiteQuality
SIO_000300: 1.913636e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.01e0

MQRankSum
type: SiteQuality
SIO_000300: -3.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.46e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.9e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.36e-1

GenotypeQuality
all individuals: 2289
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7619
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 363
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.824567596187787e-5
allele num: 11332
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65044
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6506
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16298
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9806
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.188e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.53e0

VQSLOD
type: SiteQuality
SIO_000300: 7.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

MQ
type: SiteQuality
SIO_000300: 5.481e1

QD
type: SiteQuality
SIO_000300: 1.198e1

DP
type: SiteQuality
SIO_000300: 1.878853e6

MQRankSum
type: SiteQuality
SIO_000300: -8.97e-1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2728
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7618
bin: 9.75e1
variant carriers: 4

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6488
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.103405826836274e-4
allele num: 9748
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64868
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8378
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16274
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11300
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

QD
type: SiteQuality
SIO_000300: 1.522e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.53e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.177e0

FS
type: SiteQuality
SIO_000300: 2.897e0

DP
type: SiteQuality
SIO_000300: 1.807105e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.48e-1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1283
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6490
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64854
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8378
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.026061974143238e-4
allele num: 9746
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16270
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11300
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.017e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -6.27e-1

MQ
type: SiteQuality
SIO_000300: 5.917e1

VQSLOD
type: SiteQuality
SIO_000300: 2.87e-1

DP
type: SiteQuality
SIO_000300: 1.795205e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.681e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.55e-1

QD
type: SiteQuality
SIO_000300: 1.293e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.95e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3659
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6474
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8374
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.0275380189067e-4
allele num: 9732
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64792
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16260
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11288
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.815e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.9e0

MQRankSum
type: SiteQuality
SIO_000300: 7.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e0

QD
type: SiteQuality
SIO_000300: 1.382e1

VQSLOD
type: SiteQuality
SIO_000300: 3.17e-1

DP
type: SiteQuality
SIO_000300: 1.777323e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1827
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 727
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18399
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6464
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9710
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8356
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.772421127259837e-4
allele num: 11284
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16248
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.635065817934614e-5
allele num: 64724
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.782e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-1

DP
type: SiteQuality
SIO_000300: 1.751181e6

VQSLOD
type: SiteQuality
SIO_000300: 6.13e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.161e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.12e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.65e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997332374186974e-5
allele num: 66726
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.53e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.753347e6

MQRankSum
type: SiteQuality
SIO_000300: -4.67e-1

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.93e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1702
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1527
bin: 7.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
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: 4
allele frequency: 4.626416840157298e-4
allele num: 8646
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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VQSLOD
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BaseQRankSum
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QD
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FS
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DP
type: SiteQuality
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ReadPosRankSum
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

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

Other
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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Latino
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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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East Asian
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allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
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MQRankSum
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VQSLOD
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FS
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
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MQ
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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Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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African
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Other
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MQ
type: SiteQuality
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BaseQRankSum
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QD
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ReadPosRankSum
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FS
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VQSLOD
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InbreedingCoeff
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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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South Asian
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allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Other
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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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East Asian
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allele frequency: 3.469010175763182e-4
allele num: 8648
num of homozygotes: 0

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

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

MQ
type: SiteQuality
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InbreedingCoeff
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QD
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DP
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MQRankSum
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ReadPosRankSum
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FS
type: SiteQuality
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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SIO_000300: 4.52e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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num of homozygotes: 0

Other
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

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

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

East Asian
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num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 5.91e-1

DP
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
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InbreedingCoeff
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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

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

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

African
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East Asian
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allele frequency: 9.246417013407304e-4
allele num: 8652
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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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

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

GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
allele num: 10406
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South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

Other
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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
allele num: 6614
num of homozygotes: 0

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

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

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

Other
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num of homozygotes: 0

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

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

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 0

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 4.495190146543199e-5
allele num: 66738
num of homozygotes: 0

East Asian
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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

African
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Other
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allele frequency: 0.0e0
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European (Finnish)
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MQ
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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QD
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MQRankSum
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FS
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DP
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BaseQRankSum
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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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bin: 8.75e1
variant carriers: 0

African
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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

Latino
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num of homozygotes: 0

Other
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South Asian
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East Asian
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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: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

VQSLOD
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DP
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MQ
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MQRankSum
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FS
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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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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bin: 6.25e1
variant carriers: 0

Latino
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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: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Finnish)
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num of homozygotes: 0

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

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

Latino
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allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
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allele num: 66740
num of homozygotes: 0

South Asian
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MQRankSum
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DP
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ClippingRankSum
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VQSLOD
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FS
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QD
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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MQ
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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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bin: 9.75e1
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Other
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num of homozygotes: 0

African
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Latino
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allele frequency: 2.591121091725686e-4
allele num: 11578
num of homozygotes: 0

South Asian
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East Asian
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European (Finnish)
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European (Non-Finnish)
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BaseQRankSum
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MQ
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FS
type: SiteQuality
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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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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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
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allele frequency: 0.0e0
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Other
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East Asian
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allele frequency: 0.0e0
allele num: 8654
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

South Asian
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.271e0

InbreedingCoeff
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FS
type: SiteQuality
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MQ
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ClippingRankSum
type: SiteQuality
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QD
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.95e0

MQRankSum
type: SiteQuality
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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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variant carriers: 0

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

East Asian
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allele frequency: 2.31107002542177e-4
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European (Non-Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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South Asian
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allele num: 16512
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African
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Other
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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FS
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BaseQRankSum
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MQ
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ReadPosRankSum
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QD
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele frequency: 0.0e0
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East Asian
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South Asian
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Latino
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African
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European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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MQRankSum
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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FS
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.963e1

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.77e-1

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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Other
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East Asian
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allele num: 8654
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African
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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South Asian
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ClippingRankSum
type: SiteQuality
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QD
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MQRankSum
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InbreedingCoeff
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DP
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FS
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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MQ
type: SiteQuality
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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

Latino
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European (Finnish)
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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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DP
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InbreedingCoeff
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FS
type: SiteQuality
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VQSLOD
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MQRankSum
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MQ
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ClippingRankSum
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BaseQRankSum
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QD
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ReadPosRankSum
type: SiteQuality
SIO_000300: 7.95e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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European (Finnish)
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Other
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Latino
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East Asian
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African
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South Asian
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ClippingRankSum
type: SiteQuality
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MQ
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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
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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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variant carriers: 0

European (Non-Finnish)
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Other
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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Latino
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African
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South Asian
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MQRankSum
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BaseQRankSum
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VQSLOD
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MQ
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DP
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ClippingRankSum
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InbreedingCoeff
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FS
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ReadPosRankSum
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QD
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