19-18974366-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18974366
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18974366
    reference: chr 19
allele count: 1
allele frequency: 8.25695648583932e-6
allele num: 121110
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.625G>A
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2720G>A
  hgvsp: ENSP00000262803.4:p.Arg907His
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1476G>A
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2753G>A
  hgvsp: ENSP00000470142.1:p.Arg918His
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2420
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30939
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11233
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14478
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9594
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1951
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44374
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg907His
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

19-18974388-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18974388
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18974388
    reference: chr 19
allele count: 1
allele frequency: 8.330834083108401e-6
allele num: 120036
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1498C>T
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2775C>T
  hgvsp: ENST00000599848.1:c.2775C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2742C>T
  hgvsp: ENST00000262803.5:c.2742C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.647C>T
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13912
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11482
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2083
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30783
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1847
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1979
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9103
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 43134
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser914Ser
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

19-18974397-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18974397
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18974397
    reference: chr 19
allele count: 1
allele frequency: 8.372684952610603e-6
allele num: 119436
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2784G>A
  hgvsp: ENST00000599848.1:c.2784G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1507G>A
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.656G>A
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2751G>A
  hgvsp: ENST00000262803.5:c.2751G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30721
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11557
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13458
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1877
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1817
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1754
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43396
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1954
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg917Arg
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/19-18974410-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18974410
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18974410
    reference: chr 19
allele count: 1
allele frequency: 8.540293102859289e-6
allele num: 117092
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.669A>C
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2764A>C
  hgvsp: ENSP00000262803.4:p.Thr922Pro
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1520A>C
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2797A>C
  hgvsp: ENSP00000470142.1:p.Thr933Pro
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2776
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11345
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2019
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12352
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29032
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1699
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41460
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1565
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr922Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

19-18974413-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18974413
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18974413
    reference: chr 19
allele count: 4
allele frequency: 3.449108405477184e-5
allele num: 115972
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1523A>G
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.672A>G
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2800A>G
  hgvsp: ENSP00000470142.1:p.Ile934Val
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2767A>G
  hgvsp: ENSP00000262803.4:p.Ile923Val
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28047
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2543
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11140
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3710
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11890
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40025
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7944
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5454
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1665
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1524
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ile923Val
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

19-18974418-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18974418
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18974418
    reference: chr 19
allele count: 1
allele frequency: 8.838763280241829e-6
allele num: 113138
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1528C>T
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2772C>T
  hgvsp: ENST00000262803.5:c.2772C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2805C>T
  hgvsp: ENST00000599848.1:c.2805C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.677C>T
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10361
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25626
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3822
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10916
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1456
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1575
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1067
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35870
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 946
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7375
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asn924Asn
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

19-18974420-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18974420
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18974420
    reference: chr 19
allele count: 2
allele frequency: 1.784376003711502e-5
allele num: 112084
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2774C>T
  hgvsp: ENSP00000262803.4:p.Pro925Leu
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1530C>T
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2807C>T
  hgvsp: ENSP00000470142.1:p.Pro936Leu
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.679C>T
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25044
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11091
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6819
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9604
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1407
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1217
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9423
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7049
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34531
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro925Leu
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

19-18974428-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18974428
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18974428
    reference: chr 19
allele count: 1
allele frequency: 9.217949190664061e-6
allele num: 108484
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2808+7G>A
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2775+7G>A
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1531+7G>A
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.680+7G>A
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7713
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9938
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11132
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5706
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2247
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21698
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1920
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1175
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13075
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1651
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6312
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 5.25e1
  variant carriers: 0
hgvs: c.2775+7G>A
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD

19-18974429-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18974429
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18974429
    reference: chr 19
allele count: 1
allele frequency: 9.21574048474795e-6
allele num: 108510
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2775+8C>T
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1531+8C>T
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2808+8C>T
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.680+8C>T
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11190
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5767
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9962
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21734
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2203
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13189
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1149
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1927
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6316
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30890
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1633
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 5.75e1
  variant carriers: 0
hgvs: c.2775+8C>T
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/19-18974435-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18974435
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18974435
    reference: chr 19
allele count: 1
allele frequency: 9.596376408268239e-6
allele num: 104206
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1531+14C>A
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2775+14C>A
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.680+14C>A
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2808+14C>A
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8930
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3204
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14487
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7330
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6508
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17610
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3042
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4750
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2783
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 998
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1134
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17310
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

19-18974435-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18974435
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18974435
    reference: chr 19
allele count: 1
allele frequency: 9.596376408268239e-6
allele num: 104206
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1531+14C>T
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2808+14C>T
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.680+14C>T
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2775+14C>T
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8930
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7330
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14487
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17610
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6508
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1187
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24748
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2783
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17310
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1134
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4750
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 998
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff

19-18974435-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18974435
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18974435
    reference: chr 19
allele count: 1
allele frequency: 9.596376408268239e-6
allele num: 104206
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1531+14C>G
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2808+14C>G
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.680+14C>G
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2775+14C>G
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14487
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8930
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17610
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7330
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6508
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1187
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24748
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 998
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3042
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2783
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17310
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1134
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

19-18974436-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18974436
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18974436
    reference: chr 19
allele count: 2
allele frequency: 1.920344125667319e-5
allele num: 104148
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2775+15A>T
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2808+15A>T
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1531+15A>T
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.680+15A>T
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8955
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3154
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7361
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17633
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14534
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6434
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1163
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2759
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4731
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3037
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1150
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 980
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 882
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/19-18974439-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18974439
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18974439
    reference: chr 19
allele count: 1
allele frequency: 9.762574195563886e-6
allele num: 102432
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.680+18A>C
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2808+18A>C
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1531+18A>C
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2775+18A>C
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 7753
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5904
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7980
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15589
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16884
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3723
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4398
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19110
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 905
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3495
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1469
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3649
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1436
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

19-18974440-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18974440
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18974440
    reference: chr 19
allele count: 1
allele frequency: 9.944509636229837e-6
allele num: 100558
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.680+19C>T
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1531+19C>T
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2808+19C>T
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2775+19C>T
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18604
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7113
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4398
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5283
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8432
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13733
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18881
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1862
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19877
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3717
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1803
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4164
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4189
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

19-18974448-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18974448
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18974448
    reference: chr 19
allele count: 1
allele frequency: 1.032396605479961e-5
allele num: 96862
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1531+27C>T
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2808+27C>T
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.680+27C>T
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2775+27C>T
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21553
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5772
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2336
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9393
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5923
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10417
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3867
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21041
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3032
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14757
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5598
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5058
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2677
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

19-18974451-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18974451
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18974451
    reference: chr 19
allele count: 4
allele frequency: 4.237108597093343e-5
allele num: 94404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1531+30C>T
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2808+30C>T
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.680+30C>T
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2775+30C>T
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7338
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3143
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2870
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22560
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5087
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9950
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8338
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3539
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6489
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11472
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2647
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 815
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5449
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

19-18974454-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18974454
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18974454
    reference: chr 19
allele count: 1
allele frequency: 1.115946880928468e-5
allele num: 89610
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.680+33G>A
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1531+33G>A
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2775+33G>A
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2808+33G>A
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3548
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11237
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4384
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5915
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2032
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5502
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8047
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19403
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1208
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1424
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1527
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4713
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7302
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1796
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1565
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4122
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS

http://identifiers.org/exac.variant/19-18974458-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18974458
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18974458
    reference: chr 19
allele count: 1
allele frequency: 1.133016088828461e-5
allele num: 88260
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1531+37A>C
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2808+37A>C
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2775+37A>C
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.680+37A>C
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3758
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4190
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10909
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5122
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12151
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21570
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1724
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4377
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1458
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7464
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19259
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1348
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1802
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1716
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7415
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5570
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: A
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

19-18974458-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18974458
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18974458
    reference: chr 19
allele count: 1
allele frequency: 1.133016088828461e-5
allele num: 88260
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2775+37A>G
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1531+37A>G
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.680+37A>G
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2808+37A>G
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10909
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5122
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3758
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4190
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21570
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1802
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5570
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1716
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1348
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5065
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4377
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7415
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7464
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19259
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1724
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1458
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum

19-18974460-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18974460
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18974460
    reference: chr 19
allele count: 1
allele frequency: 1.171618708407536e-5
allele num: 85352
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1531+39A>G
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2808+39A>G
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.680+39A>G
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2775+39A>G
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3870
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4183
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12031
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20666
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4101
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13076
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1214
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5431
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2657
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4651
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7589
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17679
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1990
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5553
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2273
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1896
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

19-18974461-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18974461
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18974461
    reference: chr 19
allele count: 1
allele frequency: 1.169563285069355e-5
allele num: 85502
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2808+40C>T
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.680+40C>T
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1531+40C>T
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2775+40C>T
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11986
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3907
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20543
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4078
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13232
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4212
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2225
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7604
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18100
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2324
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5565
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1983
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1204
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5428
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4685
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum

19-18974462-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18974462
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18974462
    reference: chr 19
allele count: 1
allele frequency: 1.180693303107585e-5
allele num: 84696
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1531+41C>G
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2808+41C>G
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.680+41C>G
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2775+41C>G
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20290
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3894
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13560
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4241
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5674
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2512
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2337
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4743
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5566
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1981
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1191
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5468
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17776
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7583
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum

19-18974463-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18974463
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18974463
    reference: chr 19
allele count: 3
allele frequency: 3.588001722240827e-5
allele num: 83612
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2808+42C>T
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2775+42C>T
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.680+42C>T
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1531+42C>T
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3957
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20052
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13879
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3677
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12171
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4323
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2094
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2683
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5547
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5485
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4868
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1155
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2494
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7524
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2081
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5364
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: Latino
reference allele: C
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

19-18974464-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18974464
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18974464
    reference: chr 19
allele count: 2
allele frequency: 2.418262720061907e-5
allele num: 82704
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2808+43G>A
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.680+43G>A
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2775+43G>A
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1531+43G>A
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4613
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14263
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12006
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19864
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3420
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17056
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5525
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2128
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1133
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5067
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2223
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4931
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2624
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7531
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5484
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP

19-18974466-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18974466
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18974466
    reference: chr 19
allele count: 1
allele frequency: 1.228742750417772e-5
allele num: 81384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.680+45G>A
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1531+45G>A
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2808+45G>A
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2775+45G>A
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11812
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5047
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14943
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19386
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4002
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3021
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5536
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2224
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 908
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16202
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5521
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1094
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2540
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2838
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4980
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7586
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3549
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-18974469-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18974469
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18974469
    reference: chr 19
allele count: 1
allele frequency: 1.268005680665449e-5
allele num: 78864
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2808+48C>G
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1531+48C>G
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.680+48C>G
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2775+48C>G
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4018
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15840
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2552
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18715
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11573
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5563
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2984
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1623
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5441
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1032
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5566
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13981
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4822
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5443
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3231
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7616
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2277
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2909
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/19-18974472-AAC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18974472
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18974470
    reference: chr 19
allele count: 3
allele frequency: 3.821461326811372e-5
allele num: 78504
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1531+54_1531+55delAC
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.680+54_680+55delAC
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2775+54_2775+55delAC
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2808+54_2808+55delAC
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18629
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4032
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11478
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2503
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5643
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16003
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2467
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13085
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4672
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5608
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5480
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1937
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6364
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3243
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3032
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 992
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7711
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
reference allele: AAC
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

19-18974950-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18974950
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18974950
    reference: chr 19
allele count: 1
allele frequency: 8.258729477057249e-6
allele num: 121084
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2776-29A>G
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1532-29A>G
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.681-29A>G
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2809-29A>G
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3733
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7095
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16040
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21914
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6931
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9427
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2189
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3533
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6537
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1592
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4809
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ

19-18974952-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18974952
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18974951
    reference: chr 19
allele count: 2
allele frequency: 1.65174589541145e-5
allele num: 121084
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.681-25delT
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2809-25delT
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2776-25delT
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1532-25delT
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3733
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21926
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7095
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6974
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16040
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6538
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28506
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3451
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2188
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4813
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: East Asian
reference allele: AT
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

19-18974955-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18974955
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18974955
    reference: chr 19
allele count: 1
allele frequency: 8.258729477057249e-6
allele num: 121084
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1532-24C>T
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2776-24C>T
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2809-24C>T
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.681-24C>T
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16053
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21971
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3734
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6990
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7099
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3538
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9430
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28530
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2187
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3445
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1593
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

19-18974961-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18974961
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18974961
    reference: chr 19
allele count: 1
allele frequency: 8.256820133430213e-6
allele num: 121112
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2776-18C>T
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.681-18C>T
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1532-18C>T
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2809-18C>T
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7028
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3733
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22062
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7097
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16064
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1592
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9446
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2187
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4805
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3443
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6536
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

19-18974963-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18974963
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18974963
    reference: chr 19
allele count: 7
allele frequency: 5.778342771293193e-5
allele num: 121142
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2809-16A>G
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1532-16A>G
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.681-16A>G
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2776-16A>G
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3732
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7097
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16047
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7063
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22094
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28806
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9460
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2187
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6538
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 4807
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD

19-18974965-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18974965
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18974965
    reference: chr 19
allele count: 1
allele frequency: 8.254639107178234e-6
allele num: 121144
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2809-14C>G
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2776-14C>G
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.681-14C>G
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1532-14C>G
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22118
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7049
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16054
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3732
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7097
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1590
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6530
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4808
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3445
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2188
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9460
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/19-18974969-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18974969
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18974968
    reference: chr 19
allele count: 1
allele frequency: 8.25300409349003e-6
allele num: 121168
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2776-8delC
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.681-8delC
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1532-8delC
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2809-8delC
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7089
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7096
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16054
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3732
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22132
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2187
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3537
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6529
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1590
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4809
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28871
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: AC
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

19-18974973-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18974973
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18974972
    reference: chr 19
allele count: 2
allele frequency: 1.650301179965344e-5
allele num: 121190
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.681-5delC
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2776-5delC
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1532-5delC
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2809-5delC
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7098
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3732
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7079
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16064
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22153
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6528
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4811
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1589
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2187
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9462
  bin: 6.75e1
  variant carriers: 0
hgvs: c.2776-5delC
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: TC
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

19-18974974-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18974974
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18974974
    reference: chr 19
allele count: 2
allele frequency: 1.650301179965344e-5
allele num: 121190
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1532-5C>T
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2809-5C>T
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.681-5C>T
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2776-5C>T
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7099
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22160
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16067
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7078
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3734
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4811
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3447
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6526
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28888
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9462
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1589
  bin: 8.75e1
  variant carriers: 0
hgvs: c.2776-5C>T
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ

19-18974975-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18974975
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18974975
    reference: chr 19
allele count: 1
allele frequency: 8.250688932525866e-6
allele num: 121202
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.681-4G>A
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2809-4G>A
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2776-4G>A
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1532-4G>A
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7098
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7081
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16070
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3732
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22170
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2188
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3542
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6525
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4813
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1589
  bin: 8.75e1
  variant carriers: 0
hgvs: c.2776-4G>A
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS

19-18974975-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18974975
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18974975
    reference: chr 19
allele count: 3
allele frequency: 2.47520667975776e-5
allele num: 121202
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.681-4G>C
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2809-4G>C
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1532-4G>C
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2776-4G>C
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22170
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7081
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3732
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7098
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16070
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3447
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1589
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4813
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2188
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28919
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9457
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
hgvs: c.2776-4G>C
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum

19-18974983-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18974983
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18974983
    reference: chr 19
allele count: 1
allele frequency: 8.247694769311978e-6
allele num: 121246
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2780C>T
  hgvsp: ENSP00000262803.4:p.Ala927Val
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.685C>T
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1536C>T
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2813C>T
  hgvsp: ENSP00000470142.1:p.Ala938Val
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3732
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7100
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7091
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22191
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3540
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4811
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  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: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3445
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28948
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6521
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2189
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala927Val
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ

19-18974984-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18974984
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18974984
    reference: chr 19
allele count: 1
allele frequency: 8.247422680412371e-6
allele num: 121250
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.686C>T
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2781C>T
  hgvsp: ENST00000262803.5:c.2781C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1537C>T
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2814C>T
  hgvsp: ENST00000599848.1:c.2814C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7099
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3732
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22199
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7089
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16076
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4813
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2189
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28966
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3446
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1590
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9451
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala927Ala
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

19-18974998-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18974998
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18974998
    reference: chr 19
allele count: 1
allele frequency: 8.24715060946443e-6
allele num: 121254
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1551C>G
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.700C>G
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2828C>G
  hgvsp: ENSP00000470142.1:p.Thr943Arg
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2795C>G
  hgvsp: ENSP00000262803.4:p.Thr932Arg
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16074
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7095
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22201
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3732
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3443
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4813
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9445
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1589
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6518
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2188
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr932Arg
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ

19-18975007-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18975007
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18975007
    reference: chr 19
allele count: 1
allele frequency: 8.248919391559706e-6
allele num: 121228
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2804A>T
  hgvsp: ENSP00000262803.4:p.Tyr935Phe
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2837A>T
  hgvsp: ENSP00000470142.1:p.Tyr946Phe
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1560A>T
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.709A>T
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22205
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16070
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3732
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7051
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7095
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3530
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2188
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4811
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3442
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6518
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28952
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Tyr935Phe
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP

19-18975016-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18975016
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18975016
    reference: chr 19
allele count: 1
allele frequency: 8.251369727374745e-6
allele num: 121192
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2846G>A
  hgvsp: ENSP00000470142.1:p.Arg949Gln
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2813G>A
  hgvsp: ENSP00000262803.4:p.Arg938Gln
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.718G>A
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1569G>A
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22189
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16059
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3731
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7094
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7029
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3524
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9434
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6516
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28896
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3441
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1590
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg938Gln
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff

19-18975035-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18975035
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18975035
    reference: chr 19
allele count: 1
allele frequency: 8.260912665631299e-6
allele num: 121052
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2865C>G
  hgvsp: ENST00000599848.1:c.2865C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2832C>G
  hgvsp: ENST00000262803.5:c.2832C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1588C>G
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.737C>G
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7085
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3731
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16016
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6910
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22094
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6512
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2187
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1587
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4800
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28671
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly944Gly
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ

19-18975038-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18975038
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18975038
    reference: chr 19
allele count: 2
allele frequency: 1.652947204866277e-5
allele num: 120996
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.740C>T
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2868C>T
  hgvsp: ENST00000599848.1:c.2868C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1591C>T
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2835C>T
  hgvsp: ENST00000262803.5:c.2835C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7083
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6858
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3730
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16000
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22075
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6512
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4794
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3513
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3430
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1586
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9374
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28569
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser945Ser
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

19-18975039-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18975039
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18975039
    reference: chr 19
allele count: 2
allele frequency: 1.653001851362074e-5
allele num: 120992
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1592G>A
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.741G>A
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2869G>A
  hgvsp: ENSP00000470142.1:p.Val957Ile
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2836G>A
  hgvsp: ENSP00000262803.4:p.Val946Ile
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7083
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3730
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22077
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15999
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6861
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1586
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3430
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9367
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4793
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6509
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2186
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val946Ile
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

19-18975041-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18975041
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18975041
    reference: chr 19
allele count: 1
allele frequency: 8.266239026567692e-6
allele num: 120974
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2871C>T
  hgvsp: ENST00000599848.1:c.2871C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2838C>T
  hgvsp: ENST00000262803.5:c.2838C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1594C>T
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.743C>T
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3731
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7082
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15987
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6851
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22076
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3510
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1586
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6509
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2186
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9362
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4794
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28599
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val946Val
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: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

19-18975067-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18975067
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18975067
    reference: chr 19
allele count: 3
allele frequency: 2.494761001896018e-5
allele num: 120252
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.762+7C>T
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1613+7C>T
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2890+7C>T
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2857+7C>T
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21476
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15662
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6982
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6481
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9133
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6492
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4743
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1131
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3392
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1579
  bin: 8.75e1
  variant carriers: 0
hgvs: c.2857+7C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD

19-18975068-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18975068
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18975068
    reference: chr 19
allele count: 9
allele frequency: 7.490512018110394e-5
allele num: 120152
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.762+8G>A
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2890+8G>A
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2857+8G>A
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1613+8G>A
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6401
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15580
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3696
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21418
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6957
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1936
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9061
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1244
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2170
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3427
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1578
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27189
  bin: 6.25e1
  variant carriers: 0
hgvs: c.2857+8G>A
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

19-18975070-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18975070
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18975069
    reference: chr 19
allele count: 1
allele frequency: 8.325424180361989e-6
allele num: 120114
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2857+11delC
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2890+11delC
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.762+11delC
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1613+11delC
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: intron
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 6941
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15522
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3694
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6383
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1932
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21376
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27201
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1316
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3383
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9054
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6477
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1576
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3413
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2170
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
reference allele: TC
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff

19-18975077-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18975077
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18975077
    reference: chr 19
allele count: 37
allele frequency: 3.090802773368975e-4
allele num: 119710
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1613+17G>A
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.762+17G>A
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2890+17G>A
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2857+17G>A
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 15121
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 20766
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6885
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5934
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3672
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8874
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1562
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25941
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2156
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4640
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3368
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1996
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD

19-18975079-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18975079
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18975079
    reference: chr 19
allele count: 1
allele frequency: 8.373386029842748e-6
allele num: 119426
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2857+19G>C
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2890+19G>C
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1613+19G>C
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.762+19G>C
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3642
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3092
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6712
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20122
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14560
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5783
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1918
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8437
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6443
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1559
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2151
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1051
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2533
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4583
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3353
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/19-18975081-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18975081
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18975081
    reference: chr 19
allele count: 1
allele frequency: 8.378016085790886e-6
allele num: 119360
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1613+21C>A
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2890+21C>A
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.762+21C>A
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2857+21C>A
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6676
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20011
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5849
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14417
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3636
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3222
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6439
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2150
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2608
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3295
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1110
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1558
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24220
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

19-18975085-G-GC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18975085
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18975086
    reference: chr 19
allele count: 1
allele frequency: 8.386025527061704e-6
allele num: 119246
alternate allele: GC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.762+27dupC
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1613+27dupC
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2890+27dupC
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2857+27dupC
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3519
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6614
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19666
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5943
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14062
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23896
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6432
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8309
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2809
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3251
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1271
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1030
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4535
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2145
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

19-18975085-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18975085
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18975085
    reference: chr 19
allele count: 1
allele frequency: 8.386025527061704e-6
allele num: 119246
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2857+25G>T
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1613+25G>T
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2890+25G>T
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.762+25G>T
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6614
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3519
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5943
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19666
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14062
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3325
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2809
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3251
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1271
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6432
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2145
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1553
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4535
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1030
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23896
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

19-18975088-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18975088
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18975088
    reference: chr 19
allele count: 1
allele frequency: 8.404067568703253e-6
allele num: 118990
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1613+28G>A
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2857+28G>A
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.762+28G>A
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2890+28G>A
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19086
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6053
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13503
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3974
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2658
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3570
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6488
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4404
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22898
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6381
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1226
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3084
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1128
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8026
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1572
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3145
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1519
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/19-18975089-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18975089
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18975089
    reference: chr 19
allele count: 2
allele frequency: 1.681604923739217e-5
allele num: 118934
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.762+29A>C
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1613+29A>C
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2890+29A>C
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2857+29A>C
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13390
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4081
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2822
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3563
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18923
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6463
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6084
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7965
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3143
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22738
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3252
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1245
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1200
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3116
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1513
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1648
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

19-18975104-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18975104
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18975104
    reference: chr 19
allele count: 1
allele frequency: 8.482627578718784e-6
allele num: 117888
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2857+44A>G
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.762+44A>G
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1613+44A>G
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2890+44A>G
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11164
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7228
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8517
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3498
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13652
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1871
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4639
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3614
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1015
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1903
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3420
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2571
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6686
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14928
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2082
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1872
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3139
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4115
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3241
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

19-18975106-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18975106
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18975106
    reference: chr 19
allele count: 5
allele frequency: 4.255608892520342e-5
allele num: 117492
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.762+46C>T
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2857+46C>T
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2890+46C>T
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1613+46C>T
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8483
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1869
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8786
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10674
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4581
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6166
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12617
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3487
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3327
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4053
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6337
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1475
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3321
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1949
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1581
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2229
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6434
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2747
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3409
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3867
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

19-18975108-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18975108
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18975108
    reference: chr 19
allele count: 3
allele frequency: 2.554626428461945e-5
allele num: 117434
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2890+48G>C
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1613+48G>C
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2857+48G>C
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.762+48G>C
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12122
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3482
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4604
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1862
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10144
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8424
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6118
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9844
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3957
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6364
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2068
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3070
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4104
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3224
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2241
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6328
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4015
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3396
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11825
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1474
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/19-18975110-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18975110
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18975110
    reference: chr 19
allele count: 1
allele frequency: 8.547008547008548e-6
allele num: 117000
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.762+50A>C
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2857+50A>C
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2890+50A>C
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1613+50A>C
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8393
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4562
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9642
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3478
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11600
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1859
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10899
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6077
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3984
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1474
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1942
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6328
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8837
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1037
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4812
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3066
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4402
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2484
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4024
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5681
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3415
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP

19-18976049-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18976049
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18976049
    reference: chr 19
allele count: 1
allele frequency: 1.344230562426067e-5
allele num: 74392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.763-49G>A
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2858-49G>A
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1614-49G>A
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2891-49G>A
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21758
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3599
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9749
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3458
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19432
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 792
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6625
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2649
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6411
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1181
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1952
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2688
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4918
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2239
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14352
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9342
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS

19-18976057-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18976057
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18976057
    reference: chr 19
allele count: 13
allele frequency: 1.728861345320105e-4
allele num: 75194
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2891-41C>T
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1614-41C>T
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.763-41C>T
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2858-41C>T
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6595
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7081
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 19399
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21673
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1559
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9171
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17820
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1974
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6335
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6400
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5409
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2295
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2339
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum

19-18976058-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18976058
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18976058
    reference: chr 19
allele count: 11
allele frequency: 1.454218555828772e-4
allele num: 75642
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.763-40G>A
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1614-40G>A
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2891-40G>A
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2858-40G>A
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19415
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21207
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2631
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6175
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8126
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5930
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1409
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18586
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1193
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 6397
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1299
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1909
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2299
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8998
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1243
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

19-18976067-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18976067
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18976067
    reference: chr 19
allele count: 2
allele frequency: 2.488676521825693e-5
allele num: 80364
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1614-31G>A
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.763-31G>A
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2858-31G>A
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2891-31G>A
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2121
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17260
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18672
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3513
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15747
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7428
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4037
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1191
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1403
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2097
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5832
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18895
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13377
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum

19-18976069-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18976069
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18976069
    reference: chr 19
allele count: 2
allele frequency: 2.463418239148643e-5
allele num: 81188
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.763-29C>T
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1614-29C>T
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2891-29C>T
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2858-29C>T
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18312
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16277
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17340
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3217
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6926
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 886
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18645
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2253
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5569
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15097
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

19-18976076-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18976076
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18976076
    reference: chr 19
allele count: 2
allele frequency: 2.282531784255096e-5
allele num: 87622
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2891-22C>T
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.763-22C>T
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1614-22C>T
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2858-22C>T
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15733
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10897
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25727
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2041
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3337
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3214
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 931
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4452
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 882
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1228
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 16254
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4031
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22991
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP

19-18976077-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18976077
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18976077
    reference: chr 19
allele count: 2
allele frequency: 2.241901132160072e-5
allele num: 89210
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2891-21G>A
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.763-21G>A
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1614-21G>A
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2858-21G>A
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9934
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3538
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27161
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23592
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1242
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2026
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3711
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4062
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 937
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15605
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3494
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: African
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD

19-18976083-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18976083
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18976083
    reference: chr 19
allele count: 1
allele frequency: 1.040951012845335e-5
allele num: 96066
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1614-15C>T
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2891-15C>T
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2858-15C>T
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.763-15C>T
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4428
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6233
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33702
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12080
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1243
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4257
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1232
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2493
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30483
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12510
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2485
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1267
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

19-18976100-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18976100
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18976100
    reference: chr 19
allele count: 1
allele frequency: 9.224411482547414e-6
allele num: 108408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.765C>T
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2893C>T
  hgvsp: ENSP00000470142.1:p.Arg965Trp
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2860C>T
  hgvsp: ENSP00000262803.4:p.Arg954Trp
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1616C>T
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39479
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7380
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2412
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35892
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6455
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5724
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1795
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1126
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1149
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1331
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Arg954Trp
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD

19-18976101-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18976101
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18976101
    reference: chr 19
allele count: 2
allele frequency: 1.822954644888435e-5
allele num: 109712
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2894G>T
  hgvsp: ENSP00000470142.1:p.Arg965Leu
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.766G>T
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2861G>T
  hgvsp: ENSP00000262803.4:p.Arg954Leu
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1617G>T
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7660
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2582
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40009
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5567
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2266
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6005
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 991
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1347
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1872
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5856
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2086
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg954Leu
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

19-18976102-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18976102
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18976102
    reference: chr 19
allele count: 1
allele frequency: 9.060925664165851e-6
allele num: 110364
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2862G>T
  hgvsp: ENST00000262803.5:c.2862G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1618G>T
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.767G>T
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2895G>T
  hgvsp: ENST00000599848.1:c.2895G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5272
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2687
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7869
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40090
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6116
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1247
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1359
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2150
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5556
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1932
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 935
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg954Arg
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

19-18976125-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18976125
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18976125
    reference: chr 19
allele count: 1
allele frequency: 8.539417953272305e-6
allele num: 117104
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.790C>T
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2885C>T
  hgvsp: ENSP00000262803.4:p.Thr962Ile
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2918C>T
  hgvsp: ENSP00000470142.1:p.Thr973Ile
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1641C>T
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3795
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40915
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2043
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10361
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1424
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2251
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2763
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7123
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1592
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2436
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr962Ile
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/19-18976134-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18976134
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18976134
    reference: chr 19
allele count: 1
allele frequency: 8.457374830852504e-6
allele num: 118240
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000596842
  gene symbol: UPF1
  hgvsc: ENST00000596842.1:n.1650A>C
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005007
  ensembl transcript: ENST00000600689
  gene symbol: UPF1
  hgvsc: ENST00000600689.1:n.799A>C
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000262803
  ensembl transcript: ENST00000262803
  gene symbol: UPF1
  hgvsc: ENST00000262803.5:c.2894A>C
  hgvsp: ENSP00000262803.4:p.Gln965Pro
  variant of: http://identifiers.org/hgnc/9962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005007
  ensembl protein: ENSP00000470142
  ensembl transcript: ENST00000599848
  gene symbol: UPF1
  hgvsc: ENST00000599848.1:c.2927A>C
  hgvsp: ENSP00000470142.1:p.Gln976Pro
  variant of: http://identifiers.org/hgnc/9962
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11078
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4115
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40591
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1698
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1693
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1443
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2584
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gln965Pro
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 2115
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 826
bin: 8.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
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: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.57e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.74e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

QD
type: SiteQuality
SIO_000300: 1.26e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.014e0

DP
type: SiteQuality
SIO_000300: 1.695237e6

GenotypeQuality
all individuals: 204
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.72762645914397e-5
allele num: 10280
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 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: 896
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65788
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.659e0

MQ
type: SiteQuality
SIO_000300: 5.662e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.51e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.51e-1

QD
type: SiteQuality
SIO_000300: 1.647e1

VQSLOD
type: SiteQuality
SIO_000300: -8.933e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.572e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.93e-1

DP
type: SiteQuality
SIO_000300: 1.667963e6

GenotypeQuality
all individuals: 9062
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 757
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6548
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.076072426783327e-5
allele num: 16458
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65458
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8474
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11334
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10266
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

QD
type: SiteQuality
SIO_000300: 2.622e1

MQRankSum
type: SiteQuality
SIO_000300: 6.16e-1

DP
type: SiteQuality
SIO_000300: 1.646583e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -3.085e0

FS
type: SiteQuality
SIO_000300: 1.32e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.909e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.1e-1

GenotypeQuality
all individuals: 89
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4213
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8104
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.557680924639397e-5
allele num: 64198
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16352
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8192
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10926
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6434
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.586805e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.69e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.351e0

QD
type: SiteQuality
SIO_000300: 1.35e1

VQSLOD
type: SiteQuality
SIO_000300: 1.14e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.35e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.0e-2

GenotypeQuality
all individuals: 254
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 661
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10708
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10036
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.572524845892565e-5
allele num: 63592
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8094
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6392
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.844564682734874e-4
allele num: 16264
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.337e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.29e0

MQRankSum
type: SiteQuality
SIO_000300: -1.48e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.557266e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.18e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.95e0

GenotypeQuality
all individuals: 8512
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 613
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 439
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6222
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10192
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.277139208173691e-4
allele num: 7830
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62134
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16072
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9818
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.05e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.909e0

MQ
type: SiteQuality
SIO_000300: 5.827e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.293e0

FS
type: SiteQuality
SIO_000300: 3.522e0

MQRankSum
type: SiteQuality
SIO_000300: -7.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.074e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

DP
type: SiteQuality
SIO_000300: 1.479008e6

QD
type: SiteQuality
SIO_000300: 8.69e0

GenotypeQuality
all individuals: 1528
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 606
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 247
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10030
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9734
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.622323166774821e-4
allele num: 6164
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.624273137770848e-5
allele num: 61566
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16002
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.48e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

FS
type: SiteQuality
SIO_000300: 9.29e-1

DP
type: SiteQuality
SIO_000300: 1.450701e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e0

QD
type: SiteQuality
SIO_000300: 2.552e1

VQSLOD
type: SiteQuality
SIO_000300: -1.376e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.45e-1

GenotypeQuality
all individuals: 73
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1303
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30270
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.354279523293608e-4
allele num: 7384
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15728
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59642
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9480
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5932
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.36e-1

MQ
type: SiteQuality
SIO_000300: 5.919e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.99e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.54e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.6e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.708e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

FS
type: SiteQuality
SIO_000300: 3.779e0

DP
type: SiteQuality
SIO_000300: 1.34858e6

QD
type: SiteQuality
SIO_000300: 1.268e1

GenotypeQuality
all individuals: 1294
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 585
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 228
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 769
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7386
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5922
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9474
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.053740779768177e-4
allele num: 9490
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59676
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15714
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.86e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.09e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.2e-1

FS
type: SiteQuality
SIO_000300: 6.1e0

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

DP
type: SiteQuality
SIO_000300: 1.346346e6

GenotypeQuality
all individuals: 24748
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1187
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.742889012827663e-5
allele num: 57376
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15400
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9174
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8788
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6996
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.34e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.27e-2

QD
type: SiteQuality
SIO_000300: 1.429e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.98e0

VQSLOD
type: SiteQuality
SIO_000300: 3.28e0

DP
type: SiteQuality
SIO_000300: 1.230113e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.27e-1

GenotypeQuality
all individuals: 423
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3042
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6996
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57376
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9174
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5652
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8788
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.493506493506494e-5
allele num: 15400
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.28e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.230113e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.98e0

QD
type: SiteQuality
SIO_000300: 1.429e1

MQRankSum
type: SiteQuality
SIO_000300: 3.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.27e-2

GenotypeQuality
all individuals: 168
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4750
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8788
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9174
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15400
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6996
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57376
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.769285208775655e-4
allele num: 5652
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.27e-2

DP
type: SiteQuality
SIO_000300: 1.230113e6

MQRankSum
type: SiteQuality
SIO_000300: 3.34e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.28e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.98e0

QD
type: SiteQuality
SIO_000300: 1.429e1

GenotypeQuality
all individuals: 416
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17408
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25293
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9170
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5648
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6986
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57362
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.280501710376283e-4
allele num: 8770
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15394
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.197e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.7e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.32e0

DP
type: SiteQuality
SIO_000300: 1.228602e6

QD
type: SiteQuality
SIO_000300: 1.479e1

GenotypeQuality
all individuals: 376
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22345
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.572029442691903e-5
allele num: 15216
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5544
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6828
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56424
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9054
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.539e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.214e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.39e0

VQSLOD
type: SiteQuality
SIO_000300: -3.296e0

MQ
type: SiteQuality
SIO_000300: 5.875e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.4e-3

DP
type: SiteQuality
SIO_000300: 1.171531e6

BaseQRankSum
type: SiteQuality
SIO_000300: 9.21e-1

GenotypeQuality
all individuals: 166
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 800
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8232
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.617257808364214e-5
allele num: 15112
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6680
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8922
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5414
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55396
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.137e1

FS
type: SiteQuality
SIO_000300: 2.15e0

MQ
type: SiteQuality
SIO_000300: 5.944e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.166e0

VQSLOD
type: SiteQuality
SIO_000300: 1.17e0

DP
type: SiteQuality
SIO_000300: 1.121811e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.97e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.95e-1

GenotypeQuality
all individuals: 449
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2699
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7640
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.149689583812371e-4
allele num: 8698
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14832
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5252
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53340
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 764
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6336
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.4e-3

DP
type: SiteQuality
SIO_000300: 1.022666e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.01e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.6e-1

MQ
type: SiteQuality
SIO_000300: 5.671e1

QD
type: SiteQuality
SIO_000300: 9.75e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.777e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.477e-1

GenotypeQuality
all individuals: 20815
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3290
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 984
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 756
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5096
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52068
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8494
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14686
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 5.523336095001381e-4
allele num: 7242
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6062
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.69e-1

DP
type: SiteQuality
SIO_000300: 9.66963e5

ClippingRankSum
type: SiteQuality
SIO_000300: -3.87e-1

QD
type: SiteQuality
SIO_000300: 1.401e1

FS
type: SiteQuality
SIO_000300: 2.38e0

MQRankSum
type: SiteQuality
SIO_000300: 4.66e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.699999999999999e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.181e0

GenotypeQuality
all individuals: 561
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 567
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 158
bin: 8.75e1
variant carriers: 1

African
type: Population
allele count: 1
allele frequency: 1.23334977799704e-4
allele num: 8108
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49536
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6454
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5606
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4868
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14316
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.05e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 8.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e0

DP
type: SiteQuality
SIO_000300: 8.96796e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.427e0

QD
type: SiteQuality
SIO_000300: 1.055e1

VQSLOD
type: SiteQuality
SIO_000300: -6.176e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.01e-1

MQ
type: SiteQuality
SIO_000300: 5.662e1

FS
type: SiteQuality
SIO_000300: 3.105e0

GenotypeQuality
all individuals: 5065
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 568
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 323
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6222
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8008
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.048256933349719e-5
allele num: 48822
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14224
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4766
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.300000000000001e0

DP
type: SiteQuality
SIO_000300: 8.73042e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.94e0

MQRankSum
type: SiteQuality
SIO_000300: 6.25e-1

FS
type: SiteQuality
SIO_000300: 7.265e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e0

VQSLOD
type: SiteQuality
SIO_000300: -6.978e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.221e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.16e-2

GenotypeQuality
all individuals: 323
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 500
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 568
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14224
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6222
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4766
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5506
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8008
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.048256933349719e-5
allele num: 48822
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.94e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.16e-2

VQSLOD
type: SiteQuality
SIO_000300: -6.978e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e0

DP
type: SiteQuality
SIO_000300: 8.73042e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.221e0

FS
type: SiteQuality
SIO_000300: 7.265e0

QD
type: SiteQuality
SIO_000300: 9.300000000000001e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.25e-1

GenotypeQuality
all individuals: 456
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5670
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 531
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5272
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7776
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13968
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 704
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4626
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5744
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.115864753924929e-5
allele num: 47262
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.51305e5

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.843e1

VQSLOD
type: SiteQuality
SIO_000300: -2.668e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.15e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.64e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.29e-1

QD
type: SiteQuality
SIO_000300: 1.882e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.134e0

GenotypeQuality
all individuals: 5966
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1869
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7784
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5766
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5274
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 704
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.110149820637265e-5
allele num: 47390
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13960
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4624
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.49603e5

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

QD
type: SiteQuality
SIO_000300: 1.181e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.09e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.38e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.491e0

GenotypeQuality
all individuals: 568
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 321
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2036
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4582
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5646
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5196
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7750
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13878
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.130106931367955e-5
allele num: 46946
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 698
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.84e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.44188e5

QD
type: SiteQuality
SIO_000300: 1.307e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.14e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.78e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.78e-1

GenotypeQuality
all individuals: 158
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17422
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 9.75e1
variant carriers: 3

South Asian
type: Population
allele count: 2
allele frequency: 1.448225923244026e-4
allele num: 13810
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5080
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.157124983821563e-5
allele num: 46358
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 686
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5514
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.38787e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

QD
type: SiteQuality
SIO_000300: 1.172e1

VQSLOD
type: SiteQuality
SIO_000300: 1.94e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.24e-2

FS
type: SiteQuality
SIO_000300: 2.104e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.49e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.06e-1

GenotypeQuality
all individuals: 156
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2905
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4454
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5408
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.004008016032064e-4
allele num: 4990
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.177700348432056e-5
allele num: 45920
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13688
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 684
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.481e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.69e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.67e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.222e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.26e-2

MQRankSum
type: SiteQuality
SIO_000300: -6.909999999999999e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 8.32784e5

GenotypeQuality
all individuals: 216
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4322
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4850
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5212
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13524
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7474
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.20887082523414e-5
allele num: 45272
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -2.001e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.41e-1

QD
type: SiteQuality
SIO_000300: 5.79e0

FS
type: SiteQuality
SIO_000300: 2.43e0

DP
type: SiteQuality
SIO_000300: 8.23921e5

MQRankSum
type: SiteQuality
SIO_000300: -1.447e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.33e-1

GenotypeQuality
all individuals: 997
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 200
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7310
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4612
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 658
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4198
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.27748929580031e-5
allele num: 43908
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13298
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4880
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e0

VQSLOD
type: SiteQuality
SIO_000300: -1.422e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

DP
type: SiteQuality
SIO_000300: 8.14686e5

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.76e0

MQRankSum
type: SiteQuality
SIO_000300: 5.4e-2

MQ
type: SiteQuality
SIO_000300: 5.855e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.38e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.129999999999999e-1

GenotypeQuality
all individuals: 2284
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 571
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 377
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.573728503476033e-5
allele num: 43728
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4572
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 7.53465943339361e-5
allele num: 13272
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 658
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7282
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4846
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.85e0

DP
type: SiteQuality
SIO_000300: 8.12889e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.34e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.49e1

GenotypeQuality
all individuals: 3449
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28450
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66564
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.1020258725897e-5
allele num: 16388
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.54e-1

DP
type: SiteQuality
SIO_000300: 1.919794e6

FS
type: SiteQuality
SIO_000300: 6.36e0

MQRankSum
type: SiteQuality
SIO_000300: -7.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.1e-2

QD
type: SiteQuality
SIO_000300: 9.73e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 9427
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1593
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3535
bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66560
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.219958521410272e-4
allele num: 16394
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: 8652
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.095e0

MQRankSum
type: SiteQuality
SIO_000300: 5.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

MQ
type: SiteQuality
SIO_000300: 6.057e1

FS
type: SiteQuality
SIO_000300: 1.8908e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.357e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.48e-1

DP
type: SiteQuality
SIO_000300: 1.920359e6

QD
type: SiteQuality
SIO_000300: 1.425e1

GenotypeQuality
all individuals: 6536
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 180
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4803
bin: 7.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16390
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66564
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.796e0

FS
type: SiteQuality
SIO_000300: 7.52e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.25e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

DP
type: SiteQuality
SIO_000300: 1.921449e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.223e0

QD
type: SiteQuality
SIO_000300: 9.84e0

VQSLOD
type: SiteQuality
SIO_000300: 9.58e-1

GenotypeQuality
all individuals: 47
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3537
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28708
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502087902184036e-5
allele num: 66574
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: 11570
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16408
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.783e0

DP
type: SiteQuality
SIO_000300: 1.923125e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.903e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.186e0

QD
type: SiteQuality
SIO_000300: 1.138e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.235e0

VQSLOD
type: SiteQuality
SIO_000300: -1.872e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.94e0

GenotypeQuality
all individuals: 1590
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3537
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3444
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 7
allele frequency: 4.263093788063337e-4
allele num: 16420
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66592
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.25e-1

DP
type: SiteQuality
SIO_000300: 1.923653e6

MQRankSum
type: SiteQuality
SIO_000300: 5.620000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.976e1

VQSLOD
type: SiteQuality
SIO_000300: 1.68e0

FS
type: SiteQuality
SIO_000300: 1.897e0

QD
type: SiteQuality
SIO_000300: 1.235e1

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28799
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3539
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66592
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.090133982947625e-5
allele num: 16420
num of homozygotes: 0

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 5.41e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.142e-1

QD
type: SiteQuality
SIO_000300: 9.890000000000001e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 7.06e-1

DP
type: SiteQuality
SIO_000300: 1.923523e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.146e0

GenotypeQuality
all individuals: 3445
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9461
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50159168718842e-5
allele num: 66596
num of homozygotes: 0

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

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

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.025e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.82e-1

FS
type: SiteQuality
SIO_000300: 3.422e0

VQSLOD
type: SiteQuality
SIO_000300: 1.72e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.5e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.94e0

QD
type: SiteQuality
SIO_000300: 1.274e1

DP
type: SiteQuality
SIO_000300: 1.924019e6

GenotypeQuality
all individuals: 3447
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3541
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28881
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66606
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.312673450508788e-4
allele num: 8648
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 1.924546e6

MQ
type: SiteQuality
SIO_000300: 6.04e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.95e-1

QD
type: SiteQuality
SIO_000300: 1.85e1

VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

MQRankSum
type: SiteQuality
SIO_000300: 9.64e-1

FS
type: SiteQuality
SIO_000300: 8.139999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.17e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.2e-1

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3542
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2187
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501321162623108e-5
allele num: 66608
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16450
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 6.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.91e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.41e-1

DP
type: SiteQuality
SIO_000300: 1.924569e6

FS
type: SiteQuality
SIO_000300: 5.38e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.516e0

QD
type: SiteQuality
SIO_000300: 1.608e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.03e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

GenotypeQuality
all individuals: 3447
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9457
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 28919
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16460
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501276084671971e-5
allele num: 66610
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.026e0

MQRankSum
type: SiteQuality
SIO_000300: -2.32e-1

DP
type: SiteQuality
SIO_000300: 1.925004e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

QD
type: SiteQuality
SIO_000300: 1.34e1

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.46e0

FS
type: SiteQuality
SIO_000300: 1.112e0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6525
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3542
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66610
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16460
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.46e0

DP
type: SiteQuality
SIO_000300: 1.925004e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.026e0

QD
type: SiteQuality
SIO_000300: 1.34e1

MQ
type: SiteQuality
SIO_000300: 5.971e1

MQRankSum
type: SiteQuality
SIO_000300: -2.32e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

FS
type: SiteQuality
SIO_000300: 1.112e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

GenotypeQuality
all individuals: 14
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9454
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1590
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500960614793468e-5
allele num: 66624
num of homozygotes: 0

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

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.65e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.41e0

DP
type: SiteQuality
SIO_000300: 1.924851e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.29e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.591e0

MQRankSum
type: SiteQuality
SIO_000300: 5.1e-2

QD
type: SiteQuality
SIO_000300: 1.17e0

FS
type: SiteQuality
SIO_000300: 2.758e0

MQ
type: SiteQuality
SIO_000300: 5.924e1

GenotypeQuality
all individuals: 6520
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3540
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500960614793468e-5
allele num: 66624
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.988e1

FS
type: SiteQuality
SIO_000300: 1.303e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.464e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.64e-1

DP
type: SiteQuality
SIO_000300: 1.924847e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.32e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.7e-2

QD
type: SiteQuality
SIO_000300: 1.124e1

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3535
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28986
bin: 6.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66630
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06134076857801e-5
allele num: 16498
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

QD
type: SiteQuality
SIO_000300: 1.197e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.37e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.54e-1

DP
type: SiteQuality
SIO_000300: 1.924708e6

FS
type: SiteQuality
SIO_000300: 7.3e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

GenotypeQuality
all individuals: 1590
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9441
bin: 6.75e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501321162623108e-5
allele num: 66608
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -2.57e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.42e-1

FS
type: SiteQuality
SIO_000300: 1.374e0

VQSLOD
type: SiteQuality
SIO_000300: 7.76e-1

QD
type: SiteQuality
SIO_000300: 1.44e1

DP
type: SiteQuality
SIO_000300: 1.924151e6

GenotypeQuality
all individuals: 4808
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2189
bin: 9.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501817198810561e-5
allele num: 66586
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 6.1e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.226e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

VQSLOD
type: SiteQuality
SIO_000300: 5.669999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.32e-1

FS
type: SiteQuality
SIO_000300: 5.51e-1

QD
type: SiteQuality
SIO_000300: 1.001e1

DP
type: SiteQuality
SIO_000300: 1.923472e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 9399
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3434
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3516
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66492
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
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: 1
allele frequency: 9.650646593321752e-5
allele num: 10362
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -5.38e-1

DP
type: SiteQuality
SIO_000300: 1.919638e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.859e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.37e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.616e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 1.529e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.53e-1

FS
type: SiteQuality
SIO_000300: 8.36e-1

MQ
type: SiteQuality
SIO_000300: 5.923e1

GenotypeQuality
all individuals: 33
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2186
bin: 9.25e1
variant carriers: 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: 906
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
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: 1
allele frequency: 1.504981488727689e-5
allele num: 66446
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.64902266043937e-5
allele num: 11562
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 5.26e0

VQSLOD
type: SiteQuality
SIO_000300: 3.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.97e-1

FS
type: SiteQuality
SIO_000300: 6.228e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.116e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.3e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

DP
type: SiteQuality
SIO_000300: 1.918364e6

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

GenotypeQuality
all individuals: 3511
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28597
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
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: 0
allele frequency: 0.0e0
allele num: 66442
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.64902266043937e-5
allele num: 11562
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.531e0

VQSLOD
type: SiteQuality
SIO_000300: 9.31e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

DP
type: SiteQuality
SIO_000300: 1.918221e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.229e0

MQRankSum
type: SiteQuality
SIO_000300: 3.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.355e1

GenotypeQuality
all individuals: 74
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3430
bin: 8.25e1
variant carriers: 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: 0
allele frequency: 0.0e0
allele num: 66426
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: 11560
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.070171178827243e-5
allele num: 16474
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 7.83e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.463e0

VQSLOD
type: SiteQuality
SIO_000300: 6.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.142e0

DP
type: SiteQuality
SIO_000300: 1.917629e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.999999999999999e-3

QD
type: SiteQuality
SIO_000300: 1.236e1

GenotypeQuality
all individuals: 27429
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2173
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3436
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65964
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.325040688212044e-4
allele num: 8602
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.116956202593589e-5
allele num: 16348
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.799e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.14e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.8e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.5e1

DP
type: SiteQuality
SIO_000300: 1.894458e6

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

GenotypeQuality
all individuals: 374
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4727
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6487
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 3385
bin: 8.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 8
allele frequency: 9.300162752848175e-4
allele num: 8602
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.682062858135092e-5
allele num: 11518
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65902
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.469e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.329e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.890066e6

VQSLOD
type: SiteQuality
SIO_000300: 4.83e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.28e-1

GenotypeQuality
all individuals: 70
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4720
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16332
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65876
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.163061177017911e-4
allele num: 8598
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.841e0

DP
type: SiteQuality
SIO_000300: 1.887173e6

MQ
type: SiteQuality
SIO_000300: 6.092e1

MQRankSum
type: SiteQuality
SIO_000300: 5.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.948e0

QD
type: SiteQuality
SIO_000300: 1.497e1

VQSLOD
type: SiteQuality
SIO_000300: 8.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

GenotypeQuality
all individuals: 3358
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6478
bin: 9.75e1
variant carriers: 37

European (Non-Finnish)
type: Population
allele count: 35
allele frequency: 5.331139950039603e-4
allele num: 65652
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.529051987767584e-4
allele num: 6540
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16282
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.713837574067619e-5
allele num: 11476
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -7.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.6e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.03e-1

DP
type: SiteQuality
SIO_000300: 1.864294e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.25e0

FS
type: SiteQuality
SIO_000300: 1.642e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.63e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.432e1

GenotypeQuality
all individuals: 208
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3313
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24322
bin: 6.25e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11458
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.527417137620284e-5
allele num: 65470
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.932e1

DP
type: SiteQuality
SIO_000300: 1.837823e6

MQRankSum
type: SiteQuality
SIO_000300: 7.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.295e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.9e0

VQSLOD
type: SiteQuality
SIO_000300: -1.195e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e0

GenotypeQuality
all individuals: 8387
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3344
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4573
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16226
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.527930570834861e-5
allele num: 65448
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6528
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10256
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11452
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.771e0

MQ
type: SiteQuality
SIO_000300: 5.888e1

VQSLOD
type: SiteQuality
SIO_000300: -7.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-2

QD
type: SiteQuality
SIO_000300: 1.431e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.64e0

MQRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

DP
type: SiteQuality
SIO_000300: 1.832944e6

GenotypeQuality
all individuals: 1553
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3325
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 837
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16226
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10250
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.534683855125844e-4
allele num: 6516
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65364
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8552
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11446
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e-1

MQ
type: SiteQuality
SIO_000300: 6.031e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.629999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.46e0

MQRankSum
type: SiteQuality
SIO_000300: 1.54e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.820746e6

BaseQRankSum
type: SiteQuality
SIO_000300: -7.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

QD
type: SiteQuality
SIO_000300: 1.341e1

GenotypeQuality
all individuals: 258
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8309
bin: 6.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11446
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.16294835449279e-5
allele num: 16226
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6516
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65364
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10250
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8552
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.629999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.341e1

VQSLOD
type: SiteQuality
SIO_000300: 4.46e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.58e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

DP
type: SiteQuality
SIO_000300: 1.820746e6

MQRankSum
type: SiteQuality
SIO_000300: 1.54e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e-1

MQ
type: SiteQuality
SIO_000300: 6.031e1

GenotypeQuality
all individuals: 3257
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2117
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10226
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11424
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6508
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.188118811881188e-5
allele num: 16160
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65238
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.7e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.441e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.418e0

QD
type: SiteQuality
SIO_000300: 4.9e0

DP
type: SiteQuality
SIO_000300: 1.799119e6

MQ
type: SiteQuality
SIO_000300: 5.907e1

GenotypeQuality
all individuals: 4391
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2113
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6375
bin: 9.75e1
variant carriers: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10228
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.068520052778545e-5
allele num: 65178
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16164
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11426
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8538
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.794286e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.09e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.18e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.74e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

MQ
type: SiteQuality
SIO_000300: 5.951e1

MQRankSum
type: SiteQuality
SIO_000300: 1.75e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.9e-1

QD
type: SiteQuality
SIO_000300: 1.353e1

GenotypeQuality
all individuals: 2819
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6338
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1486
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6446
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10124
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11348
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64582
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.231306081754735e-5
allele num: 16048
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.17e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.538e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.31e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.610000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.699369e6

MQRankSum
type: SiteQuality
SIO_000300: -9.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.73e-1

GenotypeQuality
all individuals: 2072
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13129
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3101
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.658674451829306e-5
allele num: 64396
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6426
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15948
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: 2
allele frequency: 1.98019801980198e-4
allele num: 10100
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11316
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8420
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.564e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.93e-1

DP
type: SiteQuality
SIO_000300: 1.686848e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 6.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.09e0

MQRankSum
type: SiteQuality
SIO_000300: -9.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.48e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.485e1

GenotypeQuality
all individuals: 1973
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2366
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2718
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.661425153050126e-5
allele num: 64358
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10092
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15948
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11312
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6420
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8414
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.677259e6

MQRankSum
type: SiteQuality
SIO_000300: 2.35e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.15e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.7e-1

QD
type: SiteQuality
SIO_000300: 1.392e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 9.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.366e0

GenotypeQuality
all individuals: 2906
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2648
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2071
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10062
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.56045190687223e-5
allele num: 64084
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6406
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8376
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15908
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11282
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -7.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.21e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

VQSLOD
type: SiteQuality
SIO_000300: -1.145e0

QD
type: SiteQuality
SIO_000300: 1.138e1

MQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQ
type: SiteQuality
SIO_000300: 5.805e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.668267e6

GenotypeQuality
all individuals: 2224
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3463
bin: 4.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6446
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.296422174252514e-5
allele num: 43546
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3160
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6378
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 500
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8770
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.15e-1

QD
type: SiteQuality
SIO_000300: 1.165e1

MQRankSum
type: SiteQuality
SIO_000300: 4.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.285e0

VQSLOD
type: SiteQuality
SIO_000300: 3.81e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

DP
type: SiteQuality
SIO_000300: 7.54427e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 305
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2476
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1194
bin: 9.75e1
variant carriers: 14

Other
type: Population
allele count: 1
allele frequency: 1.99203187250996e-3
allele num: 502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43880
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3272
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5656
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 3.089280197713933e-4
allele num: 6474
num of homozygotes: 0

African
type: Population
allele count: 10
allele frequency: 1.536098310291859e-3
allele num: 6510
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8900
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

DP
type: SiteQuality
SIO_000300: 7.85608e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.49e0

FS
type: SiteQuality
SIO_000300: 6.144e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.138e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

GenotypeQuality
all individuals: 2038
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6915
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3274
num of homozygotes: 0

East Asian
type: Population
allele count: 11
allele frequency: 1.941404871161313e-3
allele num: 5666
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6538
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 512
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8980
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44096
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.8e-2

FS
type: SiteQuality
SIO_000300: 1.329e0

QD
type: SiteQuality
SIO_000300: 1.045e1

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.2e-3

DP
type: SiteQuality
SIO_000300: 8.02862e5

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

GenotypeQuality
all individuals: 642
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 968
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 558
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.429388221841052e-4
allele num: 6996
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3734
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9658
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.659475605708596e-4
allele num: 6026
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46388
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7004
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.855e1

VQSLOD
type: SiteQuality
SIO_000300: -3.762e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.181e0

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

FS
type: SiteQuality
SIO_000300: 1.792e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

QD
type: SiteQuality
SIO_000300: 5.41e0

DP
type: SiteQuality
SIO_000300: 8.88941e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.66e-1

GenotypeQuality
all individuals: 3676
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1194
bin: 9.75e1
variant carriers: 2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3792
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 566
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9718
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 3.274394237066143e-4
allele num: 6108
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7056
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7088
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46860
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 9.09123e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.27e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.23e-1

QD
type: SiteQuality
SIO_000300: 1.007e1

MQ
type: SiteQuality
SIO_000300: 5.89e1

VQSLOD
type: SiteQuality
SIO_000300: -4.285e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 7.05e-1

GenotypeQuality
all individuals: 258
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2210
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.272912423625254e-4
allele num: 7856
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.995530012771392e-5
allele num: 50112
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4266
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7632
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10548
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.763e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.4e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.731e0

QD
type: SiteQuality
SIO_000300: 8.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.81e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

FS
type: SiteQuality
SIO_000300: 9.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

DP
type: SiteQuality
SIO_000300: 1.020643e6

GenotypeQuality
all individuals: 853
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 621
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 989
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.963633507442171e-5
allele num: 50926
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.2453300124533e-4
allele num: 8030
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6704
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 634
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4350
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10828
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7738
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e0

VQSLOD
type: SiteQuality
SIO_000300: -1.639e0

DP
type: SiteQuality
SIO_000300: 1.042141e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

FS
type: SiteQuality
SIO_000300: 5.17e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.4e-1

QD
type: SiteQuality
SIO_000300: 5.09e0

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

GenotypeQuality
all individuals: 338
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7250
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4740
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 676
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8246
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8928
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11814
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.837829890465338e-5
allele num: 54412
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.417e0

MQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

QD
type: SiteQuality
SIO_000300: 1.943e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

DP
type: SiteQuality
SIO_000300: 1.136376e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

MQ
type: SiteQuality
SIO_000300: 5.906e1

GenotypeQuality
all individuals: 634
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1987
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 497
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14166
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8070
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10308
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5562
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9172
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.657000828500414e-5
allele num: 60350
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.16e-1

FS
type: SiteQuality
SIO_000300: 2.114e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.07e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -7.75e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.792e-1

DP
type: SiteQuality
SIO_000300: 1.292375e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.014e0

QD
type: SiteQuality
SIO_000300: 1.756e1

GenotypeQuality
all individuals: 36842
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1199
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9270
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14512
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.227596366314756e-4
allele num: 8146
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60940
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.769285208775655e-4
allele num: 5652
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 5.73e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.87e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.759e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.419999999999999e-1

FS
type: SiteQuality
SIO_000300: 2.05e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.7e-2

DP
type: SiteQuality
SIO_000300: 1.307982e6

GenotypeQuality
all individuals: 36941
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5678
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 794
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10474
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8192
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.072271070126528e-4
allele num: 9326
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61260
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14640
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.233e1

FS
type: SiteQuality
SIO_000300: 5.861e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.053e0

VQSLOD
type: SiteQuality
SIO_000300: -4.148e-1

DP
type: SiteQuality
SIO_000300: 1.316076e6

MQ
type: SiteQuality
SIO_000300: 5.889e1

GenotypeQuality
all individuals: 302
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38887
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8506
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11148
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.547460617127294e-5
allele num: 64622
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6180
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15874
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9914
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.561e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 6.69e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.52e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.076e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.07e-1

MQ
type: SiteQuality
SIO_000300: 5.883e1

QD
type: SiteQuality
SIO_000300: 8.050000000000001e0

DP
type: SiteQuality
SIO_000300: 1.406096e6