5-43539010-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43539010
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43539010
    reference: chr 5
allele count: 1
allele frequency: 8.269793751343841e-6
allele num: 120922
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000387729
  ensembl transcript: ENST00000436644
  gene symbol: PAIP1
  hgvsc: ENST00000436644.2:c.609+16T>C
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000339622
  ensembl transcript: ENST00000338972
  gene symbol: PAIP1
  hgvsc: ENST00000338972.4:c.510+16T>C
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000422084
  ensembl transcript: ENST00000504639
  gene symbol: PAIP1
  hgvsc: ENST00000504639.1:c.735-1964T>C
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425675
  ensembl transcript: ENST00000511321
  gene symbol: PAIP1
  hgvsc: ENST00000511321.1:c.510+16T>C
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000302768
  ensembl transcript: ENST00000306846
  gene symbol: PAIP1
  hgvsc: ENST00000306846.3:c.846+16T>C
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425084
  ensembl transcript: ENST00000514514
  gene symbol: PAIP1
  hgvsc: ENST00000514514.1:c.609+16T>C
  variant of: http://identifiers.org/hgnc/16945
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6853
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3296
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5067
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9924
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8511
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10752
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8285
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16549
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2114
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2435
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21780
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD

5-43539039-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43539039
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43539039
    reference: chr 5
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000422084
  ensembl transcript: ENST00000504639
  gene symbol: PAIP1
  hgvsc: ENST00000504639.1:c.735-1993A>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000387729
  ensembl transcript: ENST00000436644
  gene symbol: PAIP1
  hgvsc: ENST00000436644.2:c.596A>G
  hgvsp: ENSP00000387729.2:p.Tyr199Cys
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425084
  ensembl transcript: ENST00000514514
  gene symbol: PAIP1
  hgvsc: ENST00000514514.1:c.596A>G
  hgvsp: ENSP00000425084.1:p.Tyr199Cys
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425736
  ensembl transcript: ENST00000508537
  gene symbol: PAIP1
  hgvsc: ENST00000508537.1:c.497A>G
  hgvsp: ENSP00000425736.1:p.Tyr166Cys
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000339622
  ensembl transcript: ENST00000338972
  gene symbol: PAIP1
  hgvsc: ENST00000338972.4:c.497A>G
  hgvsp: ENSP00000339622.4:p.Tyr166Cys
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000302768
  ensembl transcript: ENST00000306846
  gene symbol: PAIP1
  hgvsc: ENST00000306846.3:c.833A>G
  hgvsp: ENSP00000302768.3:p.Tyr278Cys
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425675
  ensembl transcript: ENST00000511321
  gene symbol: PAIP1
  hgvsc: ENST00000511321.1:c.497A>G
  hgvsp: ENSP00000425675.1:p.Tyr166Cys
  variant of: http://identifiers.org/hgnc/16945
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5067
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9983
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6851
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8767
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3298
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11041
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3877
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2443
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2117
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5533
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Tyr278Cys
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: MQ
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

5-43539049-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43539049
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43539049
    reference: chr 5
allele count: 5
allele frequency: 4.120177332432388e-5
allele num: 121354
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000302768
  ensembl transcript: ENST00000306846
  gene symbol: PAIP1
  hgvsc: ENST00000306846.3:c.823G>A
  hgvsp: ENSP00000302768.3:p.Gly275Arg
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425675
  ensembl transcript: ENST00000511321
  gene symbol: PAIP1
  hgvsc: ENST00000511321.1:c.487G>A
  hgvsp: ENSP00000425675.1:p.Gly163Arg
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425084
  ensembl transcript: ENST00000514514
  gene symbol: PAIP1
  hgvsc: ENST00000514514.1:c.586G>A
  hgvsp: ENSP00000425084.1:p.Gly196Arg
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000339622
  ensembl transcript: ENST00000338972
  gene symbol: PAIP1
  hgvsc: ENST00000338972.4:c.487G>A
  hgvsp: ENSP00000339622.4:p.Gly163Arg
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425736
  ensembl transcript: ENST00000508537
  gene symbol: PAIP1
  hgvsc: ENST00000508537.1:c.487G>A
  hgvsp: ENSP00000425736.1:p.Gly163Arg
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000387729
  ensembl transcript: ENST00000436644
  gene symbol: PAIP1
  hgvsc: ENST00000436644.2:c.586G>A
  hgvsp: ENSP00000387729.2:p.Gly196Arg
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000422084
  ensembl transcript: ENST00000504639
  gene symbol: PAIP1
  hgvsc: ENST00000504639.1:c.735-2003G>A
  variant of: http://identifiers.org/hgnc/16945
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 9982
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6852
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8758
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5067
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11046
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8289
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3297
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2115
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4116
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3877
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly275Arg
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

5-43539050-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43539050
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43539050
    reference: chr 5
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000339622
  ensembl transcript: ENST00000338972
  gene symbol: PAIP1
  hgvsc: ENST00000338972.4:c.486G>A
  hgvsp: ENST00000338972.4:c.486G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000302768
  ensembl transcript: ENST00000306846
  gene symbol: PAIP1
  hgvsc: ENST00000306846.3:c.822G>A
  hgvsp: ENST00000306846.3:c.822G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425736
  ensembl transcript: ENST00000508537
  gene symbol: PAIP1
  hgvsc: ENST00000508537.1:c.486G>A
  hgvsp: ENST00000508537.1:c.486G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000387729
  ensembl transcript: ENST00000436644
  gene symbol: PAIP1
  hgvsc: ENST00000436644.2:c.585G>A
  hgvsp: ENST00000436644.2:c.585G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425084
  ensembl transcript: ENST00000514514
  gene symbol: PAIP1
  hgvsc: ENST00000514514.1:c.585G>A
  hgvsp: ENST00000514514.1:c.585G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000422084
  ensembl transcript: ENST00000504639
  gene symbol: PAIP1
  hgvsc: ENST00000504639.1:c.735-2004G>A
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425675
  ensembl transcript: ENST00000511321
  gene symbol: PAIP1
  hgvsc: ENST00000511321.1:c.486G>A
  hgvsp: ENST00000511321.1:c.486G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8757
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6852
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9994
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5067
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11059
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3298
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17199
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2115
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3599
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu274Leu
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

5-43539053-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43539053
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43539053
    reference: chr 5
allele count: 15
allele frequency: 1.235808795663135e-4
allele num: 121378
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425675
  ensembl transcript: ENST00000511321
  gene symbol: PAIP1
  hgvsc: ENST00000511321.1:c.483T>C
  hgvsp: ENST00000511321.1:c.483T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425084
  ensembl transcript: ENST00000514514
  gene symbol: PAIP1
  hgvsc: ENST00000514514.1:c.582T>C
  hgvsp: ENST00000514514.1:c.582T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000387729
  ensembl transcript: ENST00000436644
  gene symbol: PAIP1
  hgvsc: ENST00000436644.2:c.582T>C
  hgvsp: ENST00000436644.2:c.582T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000302768
  ensembl transcript: ENST00000306846
  gene symbol: PAIP1
  hgvsc: ENST00000306846.3:c.819T>C
  hgvsp: ENST00000306846.3:c.819T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425736
  ensembl transcript: ENST00000508537
  gene symbol: PAIP1
  hgvsc: ENST00000508537.1:c.483T>C
  hgvsp: ENST00000508537.1:c.483T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000422084
  ensembl transcript: ENST00000504639
  gene symbol: PAIP1
  hgvsc: ENST00000504639.1:c.735-2007T>C
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000339622
  ensembl transcript: ENST00000338972
  gene symbol: PAIP1
  hgvsc: ENST00000338972.4:c.483T>C
  hgvsp: ENST00000338972.4:c.483T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11059
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6851
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5067
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8757
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9992
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17201
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2446
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21783
  bin: 9.75e1
  variant carriers: 15
hgvs: p.Phe273Phe
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

5-43539056-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43539056
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43539056
    reference: chr 5
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425736
  ensembl transcript: ENST00000508537
  gene symbol: PAIP1
  hgvsc: ENST00000508537.1:c.480C>A
  hgvsp: ENST00000508537.1:c.480C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000302768
  ensembl transcript: ENST00000306846
  gene symbol: PAIP1
  hgvsc: ENST00000306846.3:c.816C>A
  hgvsp: ENST00000306846.3:c.816C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000387729
  ensembl transcript: ENST00000436644
  gene symbol: PAIP1
  hgvsc: ENST00000436644.2:c.579C>A
  hgvsp: ENST00000436644.2:c.579C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000339622
  ensembl transcript: ENST00000338972
  gene symbol: PAIP1
  hgvsc: ENST00000338972.4:c.480C>A
  hgvsp: ENST00000338972.4:c.480C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425084
  ensembl transcript: ENST00000514514
  gene symbol: PAIP1
  hgvsc: ENST00000514514.1:c.579C>A
  hgvsp: ENST00000514514.1:c.579C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000422084
  ensembl transcript: ENST00000504639
  gene symbol: PAIP1
  hgvsc: ENST00000504639.1:c.735-2010C>A
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425675
  ensembl transcript: ENST00000511321
  gene symbol: PAIP1
  hgvsc: ENST00000511321.1:c.480C>A
  hgvsp: ENST00000511321.1:c.480C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9999
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6853
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8756
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5068
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8292
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11060
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3601
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4115
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5539
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu272Leu
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff

5-43539070-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43539070
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43539070
    reference: chr 5
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000302768
  ensembl transcript: ENST00000306846
  gene symbol: PAIP1
  hgvsc: ENST00000306846.3:c.802C>T
  hgvsp: ENSP00000302768.3:p.His268Tyr
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000387729
  ensembl transcript: ENST00000436644
  gene symbol: PAIP1
  hgvsc: ENST00000436644.2:c.565C>T
  hgvsp: ENSP00000387729.2:p.His189Tyr
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000422084
  ensembl transcript: ENST00000504639
  gene symbol: PAIP1
  hgvsc: ENST00000504639.1:c.735-2024C>T
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000339622
  ensembl transcript: ENST00000338972
  gene symbol: PAIP1
  hgvsc: ENST00000338972.4:c.466C>T
  hgvsp: ENSP00000339622.4:p.His156Tyr
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425084
  ensembl transcript: ENST00000514514
  gene symbol: PAIP1
  hgvsc: ENST00000514514.1:c.565C>T
  hgvsp: ENSP00000425084.1:p.His189Tyr
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425736
  ensembl transcript: ENST00000508537
  gene symbol: PAIP1
  hgvsc: ENST00000508537.1:c.466C>T
  hgvsp: ENSP00000425736.1:p.His156Tyr
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425675
  ensembl transcript: ENST00000511321
  gene symbol: PAIP1
  hgvsc: ENST00000511321.1:c.466C>T
  hgvsp: ENSP00000425675.1:p.His156Tyr
  variant of: http://identifiers.org/hgnc/16945
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8754
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3296
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5068
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10002
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6853
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11066
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2446
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3877
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4117
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3600
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
hgvs: p.His268Tyr
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD

5-43539075-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43539075
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43539075
    reference: chr 5
allele count: 5
allele frequency: 4.118819711023609e-5
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000302768
  ensembl transcript: ENST00000306846
  gene symbol: PAIP1
  hgvsc: ENST00000306846.3:c.797G>A
  hgvsp: ENSP00000302768.3:p.Arg266Gln
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425084
  ensembl transcript: ENST00000514514
  gene symbol: PAIP1
  hgvsc: ENST00000514514.1:c.560G>A
  hgvsp: ENSP00000425084.1:p.Arg187Gln
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425736
  ensembl transcript: ENST00000508537
  gene symbol: PAIP1
  hgvsc: ENST00000508537.1:c.461G>A
  hgvsp: ENSP00000425736.1:p.Arg154Gln
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000339622
  ensembl transcript: ENST00000338972
  gene symbol: PAIP1
  hgvsc: ENST00000338972.4:c.461G>A
  hgvsp: ENSP00000339622.4:p.Arg154Gln
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000422084
  ensembl transcript: ENST00000504639
  gene symbol: PAIP1
  hgvsc: ENST00000504639.1:c.735-2029G>A
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425675
  ensembl transcript: ENST00000511321
  gene symbol: PAIP1
  hgvsc: ENST00000511321.1:c.461G>A
  hgvsp: ENSP00000425675.1:p.Arg154Gln
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000387729
  ensembl transcript: ENST00000436644
  gene symbol: PAIP1
  hgvsc: ENST00000436644.2:c.560G>A
  hgvsp: ENSP00000387729.2:p.Arg187Gln
  variant of: http://identifiers.org/hgnc/16945
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5067
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3296
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8754
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6853
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11071
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10001
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17215
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4119
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21777
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg266Gln
num of homozygotes: 1
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

5-43539082-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43539082
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43539082
    reference: chr 5
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000422084
  ensembl transcript: ENST00000504639
  gene symbol: PAIP1
  hgvsc: ENST00000504639.1:c.735-2036C>T
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000302768
  ensembl transcript: ENST00000306846
  gene symbol: PAIP1
  hgvsc: ENST00000306846.3:c.790C>T
  hgvsp: ENSP00000302768.3:p.Arg264Ter
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425675
  ensembl transcript: ENST00000511321
  gene symbol: PAIP1
  hgvsc: ENST00000511321.1:c.454C>T
  hgvsp: ENSP00000425675.1:p.Arg152Ter
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425736
  ensembl transcript: ENST00000508537
  gene symbol: PAIP1
  hgvsc: ENST00000508537.1:c.454C>T
  hgvsp: ENSP00000425736.1:p.Arg152Ter
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000339622
  ensembl transcript: ENST00000338972
  gene symbol: PAIP1
  hgvsc: ENST00000338972.4:c.454C>T
  hgvsp: ENSP00000339622.4:p.Arg152Ter
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425084
  ensembl transcript: ENST00000514514
  gene symbol: PAIP1
  hgvsc: ENST00000514514.1:c.553C>T
  hgvsp: ENSP00000425084.1:p.Arg185Ter
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000387729
  ensembl transcript: ENST00000436644
  gene symbol: PAIP1
  hgvsc: ENST00000436644.2:c.553C>T
  hgvsp: ENSP00000387729.2:p.Arg185Ter
  variant of: http://identifiers.org/hgnc/16945
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5067
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8752
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8292
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10002
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3296
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11072
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6853
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2449
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3877
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4117
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5541
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg264Ter
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

5-43539086-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43539086
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43539086
    reference: chr 5
allele count: 2
allele frequency: 1.647555028337947e-5
allele num: 121392
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425084
  ensembl transcript: ENST00000514514
  gene symbol: PAIP1
  hgvsc: ENST00000514514.1:c.549T>C
  hgvsp: ENST00000514514.1:c.549T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000387729
  ensembl transcript: ENST00000436644
  gene symbol: PAIP1
  hgvsc: ENST00000436644.2:c.549T>C
  hgvsp: ENST00000436644.2:c.549T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425675
  ensembl transcript: ENST00000511321
  gene symbol: PAIP1
  hgvsc: ENST00000511321.1:c.450T>C
  hgvsp: ENST00000511321.1:c.450T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000422084
  ensembl transcript: ENST00000504639
  gene symbol: PAIP1
  hgvsc: ENST00000504639.1:c.735-2040T>C
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000339622
  ensembl transcript: ENST00000338972
  gene symbol: PAIP1
  hgvsc: ENST00000338972.4:c.450T>C
  hgvsp: ENST00000338972.4:c.450T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000302768
  ensembl transcript: ENST00000306846
  gene symbol: PAIP1
  hgvsc: ENST00000306846.3:c.786T>C
  hgvsp: ENST00000306846.3:c.786T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425736
  ensembl transcript: ENST00000508537
  gene symbol: PAIP1
  hgvsc: ENST00000508537.1:c.450T>C
  hgvsp: ENST00000508537.1:c.450T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6853
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11077
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5066
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8749
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3296
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10001
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3877
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2449
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4118
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val262Val
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
population: Latino
reference allele: A
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

5-43539099-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43539099
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43539099
    reference: chr 5
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425084
  ensembl transcript: ENST00000514514
  gene symbol: PAIP1
  hgvsc: ENST00000514514.1:c.536A>G
  hgvsp: ENSP00000425084.1:p.Lys179Arg
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000387729
  ensembl transcript: ENST00000436644
  gene symbol: PAIP1
  hgvsc: ENST00000436644.2:c.536A>G
  hgvsp: ENSP00000387729.2:p.Lys179Arg
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425675
  ensembl transcript: ENST00000511321
  gene symbol: PAIP1
  hgvsc: ENST00000511321.1:c.437A>G
  hgvsp: ENSP00000425675.1:p.Lys146Arg
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000339622
  ensembl transcript: ENST00000338972
  gene symbol: PAIP1
  hgvsc: ENST00000338972.4:c.437A>G
  hgvsp: ENSP00000339622.4:p.Lys146Arg
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425736
  ensembl transcript: ENST00000508537
  gene symbol: PAIP1
  hgvsc: ENST00000508537.1:c.437A>G
  hgvsp: ENSP00000425736.1:p.Lys146Arg
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000302768
  ensembl transcript: ENST00000306846
  gene symbol: PAIP1
  hgvsc: ENST00000306846.3:c.773A>G
  hgvsp: ENSP00000302768.3:p.Lys258Arg
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000422084
  ensembl transcript: ENST00000504639
  gene symbol: PAIP1
  hgvsc: ENST00000504639.1:c.735-2053A>G
  variant of: http://identifiers.org/hgnc/16945
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6854
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9996
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5066
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11078
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8743
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3296
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3877
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4116
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Lys258Arg
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

5-43539125-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43539125
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43539125
    reference: chr 5
allele count: 2
allele frequency: 1.64883180266781e-5
allele num: 121298
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000339622
  ensembl transcript: ENST00000338972
  gene symbol: PAIP1
  hgvsc: ENST00000338972.4:c.411A>G
  hgvsp: ENST00000338972.4:c.411A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000302768
  ensembl transcript: ENST00000306846
  gene symbol: PAIP1
  hgvsc: ENST00000306846.3:c.747A>G
  hgvsp: ENST00000306846.3:c.747A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425084
  ensembl transcript: ENST00000514514
  gene symbol: PAIP1
  hgvsc: ENST00000514514.1:c.510A>G
  hgvsp: ENST00000514514.1:c.510A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425736
  ensembl transcript: ENST00000508537
  gene symbol: PAIP1
  hgvsc: ENST00000508537.1:c.411A>G
  hgvsp: ENST00000508537.1:c.411A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000422084
  ensembl transcript: ENST00000504639
  gene symbol: PAIP1
  hgvsc: ENST00000504639.1:c.735-2079A>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425675
  ensembl transcript: ENST00000511321
  gene symbol: PAIP1
  hgvsc: ENST00000511321.1:c.411A>G
  hgvsp: ENST00000511321.1:c.411A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000387729
  ensembl transcript: ENST00000436644
  gene symbol: PAIP1
  hgvsc: ENST00000436644.2:c.510A>G
  hgvsp: ENST00000436644.2:c.510A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3296
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8695
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5066
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6856
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11034
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9982
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8288
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17128
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2446
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu249Glu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

5-43539132-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43539132
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43539132
    reference: chr 5
allele count: 4
allele frequency: 3.299622193258872e-5
allele num: 121226
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000339622
  ensembl transcript: ENST00000338972
  gene symbol: PAIP1
  hgvsc: ENST00000338972.4:c.404G>A
  hgvsp: ENSP00000339622.4:p.Arg135Gln
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000387729
  ensembl transcript: ENST00000436644
  gene symbol: PAIP1
  hgvsc: ENST00000436644.2:c.503G>A
  hgvsp: ENSP00000387729.2:p.Arg168Gln
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425084
  ensembl transcript: ENST00000514514
  gene symbol: PAIP1
  hgvsc: ENST00000514514.1:c.503G>A
  hgvsp: ENSP00000425084.1:p.Arg168Gln
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000422084
  ensembl transcript: ENST00000504639
  gene symbol: PAIP1
  hgvsc: ENST00000504639.1:c.735-2086G>A
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425736
  ensembl transcript: ENST00000508537
  gene symbol: PAIP1
  hgvsc: ENST00000508537.1:c.404G>A
  hgvsp: ENSP00000425736.1:p.Arg135Gln
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425675
  ensembl transcript: ENST00000511321
  gene symbol: PAIP1
  hgvsc: ENST00000511321.1:c.404G>A
  hgvsp: ENSP00000425675.1:p.Arg135Gln
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000302768
  ensembl transcript: ENST00000306846
  gene symbol: PAIP1
  hgvsc: ENST00000306846.3:c.740G>A
  hgvsp: ENSP00000302768.3:p.Arg247Gln
  variant of: http://identifiers.org/hgnc/16945
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5065
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11016
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3296
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8639
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6856
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9943
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8280
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4107
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21775
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17011
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg247Gln
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: QD

5-43539133-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43539133
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43539133
    reference: chr 5
allele count: 1
allele frequency: 8.250416646040625e-6
allele num: 121206
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425736
  ensembl transcript: ENST00000508537
  gene symbol: PAIP1
  hgvsc: ENST00000508537.1:c.403C>T
  hgvsp: ENSP00000425736.1:p.Arg135Trp
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000302768
  ensembl transcript: ENST00000306846
  gene symbol: PAIP1
  hgvsc: ENST00000306846.3:c.739C>T
  hgvsp: ENSP00000302768.3:p.Arg247Trp
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425675
  ensembl transcript: ENST00000511321
  gene symbol: PAIP1
  hgvsc: ENST00000511321.1:c.403C>T
  hgvsp: ENSP00000425675.1:p.Arg135Trp
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000387729
  ensembl transcript: ENST00000436644
  gene symbol: PAIP1
  hgvsc: ENST00000436644.2:c.502C>T
  hgvsp: ENSP00000387729.2:p.Arg168Trp
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000339622
  ensembl transcript: ENST00000338972
  gene symbol: PAIP1
  hgvsc: ENST00000338972.4:c.403C>T
  hgvsp: ENSP00000339622.4:p.Arg135Trp
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425084
  ensembl transcript: ENST00000514514
  gene symbol: PAIP1
  hgvsc: ENST00000514514.1:c.502C>T
  hgvsp: ENSP00000425084.1:p.Arg168Trp
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000422084
  ensembl transcript: ENST00000504639
  gene symbol: PAIP1
  hgvsc: ENST00000504639.1:c.735-2087C>T
  variant of: http://identifiers.org/hgnc/16945
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9945
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11006
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3296
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8629
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8273
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5066
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6856
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4106
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16988
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2112
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg247Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ

5-43539146-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43539146
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43539146
    reference: chr 5
allele count: 1
allele frequency: 8.265282507356101e-6
allele num: 120988
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000339622
  ensembl transcript: ENST00000338972
  gene symbol: PAIP1
  hgvsc: ENST00000338972.4:c.399-9T>C
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000387729
  ensembl transcript: ENST00000436644
  gene symbol: PAIP1
  hgvsc: ENST00000436644.2:c.498-9T>C
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425675
  ensembl transcript: ENST00000511321
  gene symbol: PAIP1
  hgvsc: ENST00000511321.1:c.399-9T>C
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425084
  ensembl transcript: ENST00000514514
  gene symbol: PAIP1
  hgvsc: ENST00000514514.1:c.498-9T>C
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000422084
  ensembl transcript: ENST00000504639
  gene symbol: PAIP1
  hgvsc: ENST00000504639.1:c.735-2100T>C
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000302768
  ensembl transcript: ENST00000306846
  gene symbol: PAIP1
  hgvsc: ENST00000306846.3:c.735-9T>C
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425736
  ensembl transcript: ENST00000508537
  gene symbol: PAIP1
  hgvsc: ENST00000508537.1:c.399-9T>C
  variant of: http://identifiers.org/hgnc/16945
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8260
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6855
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8433
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9869
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5064
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10837
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3295
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2111
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16553
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS

5-43539150-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43539150
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43539150
    reference: chr 5
allele count: 2
allele frequency: 1.65404082172748e-5
allele num: 120916
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000339622
  ensembl transcript: ENST00000338972
  gene symbol: PAIP1
  hgvsc: ENST00000338972.4:c.399-13T>C
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000387729
  ensembl transcript: ENST00000436644
  gene symbol: PAIP1
  hgvsc: ENST00000436644.2:c.498-13T>C
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425084
  ensembl transcript: ENST00000514514
  gene symbol: PAIP1
  hgvsc: ENST00000514514.1:c.498-13T>C
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425675
  ensembl transcript: ENST00000511321
  gene symbol: PAIP1
  hgvsc: ENST00000511321.1:c.399-13T>C
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000422084
  ensembl transcript: ENST00000504639
  gene symbol: PAIP1
  hgvsc: ENST00000504639.1:c.735-2104T>C
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425736
  ensembl transcript: ENST00000508537
  gene symbol: PAIP1
  hgvsc: ENST00000508537.1:c.399-13T>C
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000302768
  ensembl transcript: ENST00000306846
  gene symbol: PAIP1
  hgvsc: ENST00000306846.3:c.735-13T>C
  variant of: http://identifiers.org/hgnc/16945
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8254
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9840
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6852
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8197
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10757
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5063
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2425
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3865
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5429
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

5-43539150-ATATCTTT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43539150
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43539143
    reference: chr 5
allele count: 6
allele frequency: 4.962122465182441e-5
allele num: 120916
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425675
  ensembl transcript: ENST00000511321
  gene symbol: PAIP1
  hgvsc: ENST00000511321.1:c.399-20_399-14delAAAGATA
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000302768
  ensembl transcript: ENST00000306846
  gene symbol: PAIP1
  hgvsc: ENST00000306846.3:c.735-20_735-14delAAAGATA
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000339622
  ensembl transcript: ENST00000338972
  gene symbol: PAIP1
  hgvsc: ENST00000338972.4:c.399-20_399-14delAAAGATA
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000422084
  ensembl transcript: ENST00000504639
  gene symbol: PAIP1
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425084
  ensembl transcript: ENST00000514514
  gene symbol: PAIP1
  hgvsc: ENST00000514514.1:c.498-20_498-14delAAAGATA
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425736
  ensembl transcript: ENST00000508537
  gene symbol: PAIP1
  hgvsc: ENST00000508537.1:c.399-20_399-14delAAAGATA
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000387729
  ensembl transcript: ENST00000436644
  gene symbol: PAIP1
  hgvsc: ENST00000436644.2:c.498-20_498-14delAAAGATA
  variant of: http://identifiers.org/hgnc/16945
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5063
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9840
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6852
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8254
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10757
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8197
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16128
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4101
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5429
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2109
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: ATATCTTT
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

5-43539151-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43539151
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43539151
    reference: chr 5
allele count: 1
allele frequency: 8.271298593879239e-6
allele num: 120900
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425675
  ensembl transcript: ENST00000511321
  gene symbol: PAIP1
  hgvsc: ENST00000511321.1:c.399-14A>C
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425736
  ensembl transcript: ENST00000508537
  gene symbol: PAIP1
  hgvsc: ENST00000508537.1:c.399-14A>C
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000422084
  ensembl transcript: ENST00000504639
  gene symbol: PAIP1
  hgvsc: ENST00000504639.1:c.735-2105A>C
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000302768
  ensembl transcript: ENST00000306846
  gene symbol: PAIP1
  hgvsc: ENST00000306846.3:c.735-14A>C
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000339622
  ensembl transcript: ENST00000338972
  gene symbol: PAIP1
  hgvsc: ENST00000338972.4:c.399-14A>C
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000387729
  ensembl transcript: ENST00000436644
  gene symbol: PAIP1
  hgvsc: ENST00000436644.2:c.498-14A>C
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425084
  ensembl transcript: ENST00000514514
  gene symbol: PAIP1
  hgvsc: ENST00000514514.1:c.498-14A>C
  variant of: http://identifiers.org/hgnc/16945
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8252
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6853
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10750
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8195
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5063
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9848
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2109
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2426
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4100
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16173
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5428
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21768
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

5-43539152-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43539152
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43539152
    reference: chr 5
allele count: 347
allele frequency: 2.871375612339468e-3
allele num: 120848
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000339622
  ensembl transcript: ENST00000338972
  gene symbol: PAIP1
  hgvsc: ENST00000338972.4:c.399-15T>C
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425084
  ensembl transcript: ENST00000514514
  gene symbol: PAIP1
  hgvsc: ENST00000514514.1:c.498-15T>C
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000302768
  ensembl transcript: ENST00000306846
  gene symbol: PAIP1
  hgvsc: ENST00000306846.3:c.735-15T>C
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425736
  ensembl transcript: ENST00000508537
  gene symbol: PAIP1
  hgvsc: ENST00000508537.1:c.399-15T>C
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425675
  ensembl transcript: ENST00000511321
  gene symbol: PAIP1
  hgvsc: ENST00000511321.1:c.399-15T>C
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000422084
  ensembl transcript: ENST00000504639
  gene symbol: PAIP1
  hgvsc: ENST00000504639.1:c.735-2106T>C
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000387729
  ensembl transcript: ENST00000436644
  gene symbol: PAIP1
  hgvsc: ENST00000436644.2:c.498-15T>C
  variant of: http://identifiers.org/hgnc/16945
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 6.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 8.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 5.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 10684
  bin: 2.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 9783
  bin: 3.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 8001
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3289
  bin: 5.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 6829
  bin: 4.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 9.75e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 6.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 5061
  bin: 4.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 8221
  bin: 3.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3590
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD

5-43539153-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43539153
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43539153
    reference: chr 5
allele count: 1
allele frequency: 8.275679433281473e-6
allele num: 120836
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425084
  ensembl transcript: ENST00000514514
  gene symbol: PAIP1
  hgvsc: ENST00000514514.1:c.498-16A>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425736
  ensembl transcript: ENST00000508537
  gene symbol: PAIP1
  hgvsc: ENST00000508537.1:c.399-16A>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000339622
  ensembl transcript: ENST00000338972
  gene symbol: PAIP1
  hgvsc: ENST00000338972.4:c.399-16A>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000302768
  ensembl transcript: ENST00000306846
  gene symbol: PAIP1
  hgvsc: ENST00000306846.3:c.735-16A>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425675
  ensembl transcript: ENST00000511321
  gene symbol: PAIP1
  hgvsc: ENST00000511321.1:c.399-16A>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000387729
  ensembl transcript: ENST00000436644
  gene symbol: PAIP1
  hgvsc: ENST00000436644.2:c.498-16A>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000422084
  ensembl transcript: ENST00000504639
  gene symbol: PAIP1
  hgvsc: ENST00000504639.1:c.735-2107A>G
  variant of: http://identifiers.org/hgnc/16945
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8242
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6851
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9827
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8021
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10735
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3293
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3607
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/5-43539154-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43539154
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43539154
    reference: chr 5
allele count: 18
allele frequency: 1.489720925613269e-4
allele num: 120828
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425736
  ensembl transcript: ENST00000508537
  gene symbol: PAIP1
  hgvsc: ENST00000508537.1:c.399-17G>T
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425084
  ensembl transcript: ENST00000514514
  gene symbol: PAIP1
  hgvsc: ENST00000514514.1:c.498-17G>T
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000387729
  ensembl transcript: ENST00000436644
  gene symbol: PAIP1
  hgvsc: ENST00000436644.2:c.498-17G>T
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000422084
  ensembl transcript: ENST00000504639
  gene symbol: PAIP1
  hgvsc: ENST00000504639.1:c.735-2108G>T
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000302768
  ensembl transcript: ENST00000306846
  gene symbol: PAIP1
  hgvsc: ENST00000306846.3:c.735-17G>T
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000339622
  ensembl transcript: ENST00000338972
  gene symbol: PAIP1
  hgvsc: ENST00000338972.4:c.399-17G>T
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425675
  ensembl transcript: ENST00000511321
  gene symbol: PAIP1
  hgvsc: ENST00000511321.1:c.399-17G>T
  variant of: http://identifiers.org/hgnc/16945
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9824
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8250
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8017
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5070
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10727
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6854
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2424
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2112
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

5-43539163-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43539163
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43539163
    reference: chr 5
allele count: 1
allele frequency: 8.282533792737874e-6
allele num: 120736
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000422084
  ensembl transcript: ENST00000504639
  gene symbol: PAIP1
  hgvsc: ENST00000504639.1:c.735-2117A>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425675
  ensembl transcript: ENST00000511321
  gene symbol: PAIP1
  hgvsc: ENST00000511321.1:c.399-26A>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000302768
  ensembl transcript: ENST00000306846
  gene symbol: PAIP1
  hgvsc: ENST00000306846.3:c.735-26A>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000387729
  ensembl transcript: ENST00000436644
  gene symbol: PAIP1
  hgvsc: ENST00000436644.2:c.498-26A>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425736
  ensembl transcript: ENST00000508537
  gene symbol: PAIP1
  hgvsc: ENST00000508537.1:c.399-26A>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000339622
  ensembl transcript: ENST00000338972
  gene symbol: PAIP1
  hgvsc: ENST00000338972.4:c.399-26A>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425084
  ensembl transcript: ENST00000514514
  gene symbol: PAIP1
  hgvsc: ENST00000514514.1:c.498-26A>G
  variant of: http://identifiers.org/hgnc/16945
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9732
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8235
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5073
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7467
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6847
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2058
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10435
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3295
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2111
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4093
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 983
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff

5-43539177-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43539177
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43539177
    reference: chr 5
allele count: 1
allele frequency: 8.310341388824253e-6
allele num: 120332
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425084
  ensembl transcript: ENST00000514514
  gene symbol: PAIP1
  hgvsc: ENST00000514514.1:c.498-40C>T
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000387729
  ensembl transcript: ENST00000436644
  gene symbol: PAIP1
  hgvsc: ENST00000436644.2:c.498-40C>T
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425675
  ensembl transcript: ENST00000511321
  gene symbol: PAIP1
  hgvsc: ENST00000511321.1:c.399-40C>T
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000302768
  ensembl transcript: ENST00000306846
  gene symbol: PAIP1
  hgvsc: ENST00000306846.3:c.735-40C>T
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000339622
  ensembl transcript: ENST00000338972
  gene symbol: PAIP1
  hgvsc: ENST00000338972.4:c.399-40C>T
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425736
  ensembl transcript: ENST00000508537
  gene symbol: PAIP1
  hgvsc: ENST00000508537.1:c.399-40C>T
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000422084
  ensembl transcript: ENST00000504639
  gene symbol: PAIP1
  hgvsc: ENST00000504639.1:c.735-2131C>T
  variant of: http://identifiers.org/hgnc/16945
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9393
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2058
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3224
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9285
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8114
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5068
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5910
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6824
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1188
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11703
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2339
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3836
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD

5-43539187-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43539187
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43539187
    reference: chr 5
allele count: 1
allele frequency: 8.341814177747376e-6
allele num: 119878
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425084
  ensembl transcript: ENST00000514514
  gene symbol: PAIP1
  hgvsc: ENST00000514514.1:c.498-50A>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000302768
  ensembl transcript: ENST00000306846
  gene symbol: PAIP1
  hgvsc: ENST00000306846.3:c.735-50A>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000422084
  ensembl transcript: ENST00000504639
  gene symbol: PAIP1
  hgvsc: ENST00000504639.1:c.735-2141A>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425736
  ensembl transcript: ENST00000508537
  gene symbol: PAIP1
  hgvsc: ENST00000508537.1:c.399-50A>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425675
  ensembl transcript: ENST00000511321
  gene symbol: PAIP1
  hgvsc: ENST00000511321.1:c.399-50A>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000339622
  ensembl transcript: ENST00000338972
  gene symbol: PAIP1
  hgvsc: ENST00000338972.4:c.399-50A>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000387729
  ensembl transcript: ENST00000436644
  gene symbol: PAIP1
  hgvsc: ENST00000436644.2:c.498-50A>G
  variant of: http://identifiers.org/hgnc/16945
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 6812
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2058
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8274
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7471
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3587
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8026
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5068
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8515
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2096
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4383
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21714
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3601
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1891
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

5-43543064-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43543064
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43543064
    reference: chr 5
allele count: 1
allele frequency: 8.418358756776778e-6
allele num: 118788
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425084
  ensembl transcript: ENST00000514514
  gene symbol: PAIP1
  hgvsc: ENST00000514514.1:c.497+42A>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425736
  ensembl transcript: ENST00000508537
  gene symbol: PAIP1
  hgvsc: ENST00000508537.1:c.398+42A>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000339622
  ensembl transcript: ENST00000338972
  gene symbol: PAIP1
  hgvsc: ENST00000338972.4:c.398+42A>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000302768
  ensembl transcript: ENST00000306846
  gene symbol: PAIP1
  hgvsc: ENST00000306846.3:c.734+42A>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425675
  ensembl transcript: ENST00000511321
  gene symbol: PAIP1
  hgvsc: ENST00000511321.1:c.398+42A>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000387729
  ensembl transcript: ENST00000436644
  gene symbol: PAIP1
  hgvsc: ENST00000436644.2:c.497+42A>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000422084
  ensembl transcript: ENST00000504639
  gene symbol: PAIP1
  hgvsc: ENST00000504639.1:c.734+42A>G
  variant of: http://identifiers.org/hgnc/16945
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2467
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19709
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4388
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6574
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17039
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4966
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 236
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 929
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1367
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genotype quality: GenotypeQuality
  all individuals: 2168
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genotype quality: GenotypeQuality
  all individuals: 33526
  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 454
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 967
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1935
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/5-43543065-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43543065
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43543065
    reference: chr 5
allele count: 1
allele frequency: 8.424315945545221e-6
allele num: 118704
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425675
  ensembl transcript: ENST00000511321
  gene symbol: PAIP1
  hgvsc: ENST00000511321.1:c.398+41T>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000387729
  ensembl transcript: ENST00000436644
  gene symbol: PAIP1
  hgvsc: ENST00000436644.2:c.497+41T>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000302768
  ensembl transcript: ENST00000306846
  gene symbol: PAIP1
  hgvsc: ENST00000306846.3:c.734+41T>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000339622
  ensembl transcript: ENST00000338972
  gene symbol: PAIP1
  hgvsc: ENST00000338972.4:c.398+41T>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425736
  ensembl transcript: ENST00000508537
  gene symbol: PAIP1
  hgvsc: ENST00000508537.1:c.398+41T>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000422084
  ensembl transcript: ENST00000504639
  gene symbol: PAIP1
  hgvsc: ENST00000504639.1:c.734+41T>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425084
  ensembl transcript: ENST00000514514
  gene symbol: PAIP1
  hgvsc: ENST00000514514.1:c.497+41T>G
  variant of: http://identifiers.org/hgnc/16945
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4247
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17177
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20449
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6613
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4196
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2470
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1509
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1901
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3329
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2341
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1371
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1175
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5969
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum

5-43543073-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43543073
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43543073
    reference: chr 5
allele count: 2
allele frequency: 1.67740203972088e-5
allele num: 119232
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425084
  ensembl transcript: ENST00000514514
  gene symbol: PAIP1
  hgvsc: ENST00000514514.1:c.497+33C>A
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000387729
  ensembl transcript: ENST00000436644
  gene symbol: PAIP1
  hgvsc: ENST00000436644.2:c.497+33C>A
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425736
  ensembl transcript: ENST00000508537
  gene symbol: PAIP1
  hgvsc: ENST00000508537.1:c.398+33C>A
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000302768
  ensembl transcript: ENST00000306846
  gene symbol: PAIP1
  hgvsc: ENST00000306846.3:c.734+33C>A
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000422084
  ensembl transcript: ENST00000504639
  gene symbol: PAIP1
  hgvsc: ENST00000504639.1:c.734+33C>A
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425675
  ensembl transcript: ENST00000511321
  gene symbol: PAIP1
  hgvsc: ENST00000511321.1:c.398+33C>A
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000339622
  ensembl transcript: ENST00000338972
  gene symbol: PAIP1
  hgvsc: ENST00000338972.4:c.398+33C>A
  variant of: http://identifiers.org/hgnc/16945
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18068
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24785
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2175
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2473
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6797
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6133
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1179
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40740
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

5-43543080-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43543080
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43543080
    reference: chr 5
allele count: 1
allele frequency: 8.3380582329987e-6
allele num: 119932
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425675
  ensembl transcript: ENST00000511321
  gene symbol: PAIP1
  hgvsc: ENST00000511321.1:c.398+26A>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000339622
  ensembl transcript: ENST00000338972
  gene symbol: PAIP1
  hgvsc: ENST00000338972.4:c.398+26A>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425084
  ensembl transcript: ENST00000514514
  gene symbol: PAIP1
  hgvsc: ENST00000514514.1:c.497+26A>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425736
  ensembl transcript: ENST00000508537
  gene symbol: PAIP1
  hgvsc: ENST00000508537.1:c.398+26A>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000422084
  ensembl transcript: ENST00000504639
  gene symbol: PAIP1
  hgvsc: ENST00000504639.1:c.734+26A>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000302768
  ensembl transcript: ENST00000306846
  gene symbol: PAIP1
  hgvsc: ENST00000306846.3:c.734+26A>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000387729
  ensembl transcript: ENST00000436644
  gene symbol: PAIP1
  hgvsc: ENST00000436644.2:c.497+26A>G
  variant of: http://identifiers.org/hgnc/16945
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6853
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26262
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18625
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3328
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1177
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP

5-43543087-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43543087
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43543087
    reference: chr 5
allele count: 2
allele frequency: 1.659035105182826e-5
allele num: 120552
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000302768
  ensembl transcript: ENST00000306846
  gene symbol: PAIP1
  hgvsc: ENST00000306846.3:c.734+19T>C
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000387729
  ensembl transcript: ENST00000436644
  gene symbol: PAIP1
  hgvsc: ENST00000436644.2:c.497+19T>C
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425736
  ensembl transcript: ENST00000508537
  gene symbol: PAIP1
  hgvsc: ENST00000508537.1:c.398+19T>C
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425084
  ensembl transcript: ENST00000514514
  gene symbol: PAIP1
  hgvsc: ENST00000514514.1:c.497+19T>C
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000339622
  ensembl transcript: ENST00000338972
  gene symbol: PAIP1
  hgvsc: ENST00000338972.4:c.398+19T>C
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000422084
  ensembl transcript: ENST00000504639
  gene symbol: PAIP1
  hgvsc: ENST00000504639.1:c.734+19T>C
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425675
  ensembl transcript: ENST00000511321
  gene symbol: PAIP1
  hgvsc: ENST00000511321.1:c.398+19T>C
  variant of: http://identifiers.org/hgnc/16945
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27066
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6923
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19008
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1175
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

5-43543093-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43543093
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43543093
    reference: chr 5
allele count: 1
allele frequency: 8.270614506657845e-6
allele num: 120910
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000387729
  ensembl transcript: ENST00000436644
  gene symbol: PAIP1
  hgvsc: ENST00000436644.2:c.497+13G>C
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000339622
  ensembl transcript: ENST00000338972
  gene symbol: PAIP1
  hgvsc: ENST00000338972.4:c.398+13G>C
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000302768
  ensembl transcript: ENST00000306846
  gene symbol: PAIP1
  hgvsc: ENST00000306846.3:c.734+13G>C
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425675
  ensembl transcript: ENST00000511321
  gene symbol: PAIP1
  hgvsc: ENST00000511321.1:c.398+13G>C
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000422084
  ensembl transcript: ENST00000504639
  gene symbol: PAIP1
  hgvsc: ENST00000504639.1:c.734+13G>C
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425084
  ensembl transcript: ENST00000514514
  gene symbol: PAIP1
  hgvsc: ENST00000514514.1:c.497+13G>C
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425736
  ensembl transcript: ENST00000508537
  gene symbol: PAIP1
  hgvsc: ENST00000508537.1:c.398+13G>C
  variant of: http://identifiers.org/hgnc/16945
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19192
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6972
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27273
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6330
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

5-43543093-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43543093
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43543093
    reference: chr 5
allele count: 1
allele frequency: 8.270614506657845e-6
allele num: 120910
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000302768
  ensembl transcript: ENST00000306846
  gene symbol: PAIP1
  hgvsc: ENST00000306846.3:c.734+13G>A
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000387729
  ensembl transcript: ENST00000436644
  gene symbol: PAIP1
  hgvsc: ENST00000436644.2:c.497+13G>A
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425736
  ensembl transcript: ENST00000508537
  gene symbol: PAIP1
  hgvsc: ENST00000508537.1:c.398+13G>A
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000339622
  ensembl transcript: ENST00000338972
  gene symbol: PAIP1
  hgvsc: ENST00000338972.4:c.398+13G>A
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000422084
  ensembl transcript: ENST00000504639
  gene symbol: PAIP1
  hgvsc: ENST00000504639.1:c.734+13G>A
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425084
  ensembl transcript: ENST00000514514
  gene symbol: PAIP1
  hgvsc: ENST00000514514.1:c.497+13G>A
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425675
  ensembl transcript: ENST00000511321
  gene symbol: PAIP1
  hgvsc: ENST00000511321.1:c.398+13G>A
  variant of: http://identifiers.org/hgnc/16945
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27273
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6972
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19192
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44808
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1512
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3328
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1762
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

5-43543117-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43543117
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43543117
    reference: chr 5
allele count: 1
allele frequency: 8.24551856066228e-6
allele num: 121278
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000422084
  ensembl transcript: ENST00000504639
  gene symbol: PAIP1
  hgvsc: ENST00000504639.1:c.723G>A
  hgvsp: ENST00000504639.1:c.723G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425736
  ensembl transcript: ENST00000508537
  gene symbol: PAIP1
  hgvsc: ENST00000508537.1:c.387G>A
  hgvsp: ENST00000508537.1:c.387G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000339622
  ensembl transcript: ENST00000338972
  gene symbol: PAIP1
  hgvsc: ENST00000338972.4:c.387G>A
  hgvsp: ENST00000338972.4:c.387G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425675
  ensembl transcript: ENST00000511321
  gene symbol: PAIP1
  hgvsc: ENST00000511321.1:c.387G>A
  hgvsp: ENST00000511321.1:c.387G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425084
  ensembl transcript: ENST00000514514
  gene symbol: PAIP1
  hgvsc: ENST00000514514.1:c.486G>A
  hgvsp: ENST00000514514.1:c.486G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000302768
  ensembl transcript: ENST00000306846
  gene symbol: PAIP1
  hgvsc: ENST00000306846.3:c.723G>A
  hgvsp: ENST00000306846.3:c.723G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000387729
  ensembl transcript: ENST00000436644
  gene symbol: PAIP1
  hgvsc: ENST00000436644.2:c.486G>A
  hgvsp: ENST00000436644.2:c.486G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19418
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7006
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27383
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3327
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6360
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1762
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu241Leu
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

5-43543119-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43543119
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43543119
    reference: chr 5
allele count: 1
allele frequency: 8.244974687927709e-6
allele num: 121286
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000302768
  ensembl transcript: ENST00000306846
  gene symbol: PAIP1
  hgvsc: ENST00000306846.3:c.721T>C
  hgvsp: ENST00000306846.3:c.721T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000339622
  ensembl transcript: ENST00000338972
  gene symbol: PAIP1
  hgvsc: ENST00000338972.4:c.385T>C
  hgvsp: ENST00000338972.4:c.385T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425736
  ensembl transcript: ENST00000508537
  gene symbol: PAIP1
  hgvsc: ENST00000508537.1:c.385T>C
  hgvsp: ENST00000508537.1:c.385T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425084
  ensembl transcript: ENST00000514514
  gene symbol: PAIP1
  hgvsc: ENST00000514514.1:c.484T>C
  hgvsp: ENST00000514514.1:c.484T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000422084
  ensembl transcript: ENST00000504639
  gene symbol: PAIP1
  hgvsc: ENST00000504639.1:c.721T>C
  hgvsp: ENST00000504639.1:c.721T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000387729
  ensembl transcript: ENST00000436644
  gene symbol: PAIP1
  hgvsc: ENST00000436644.2:c.484T>C
  hgvsp: ENST00000436644.2:c.484T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425675
  ensembl transcript: ENST00000511321
  gene symbol: PAIP1
  hgvsc: ENST00000511321.1:c.385T>C
  hgvsp: ENST00000511321.1:c.385T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7005
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27395
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19422
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6366
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu241Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

5-43543120-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43543120
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43543120
    reference: chr 5
allele count: 3
allele frequency: 2.473451619286327e-5
allele num: 121288
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425675
  ensembl transcript: ENST00000511321
  gene symbol: PAIP1
  hgvsc: ENST00000511321.1:c.384A>G
  hgvsp: ENST00000511321.1:c.384A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000422084
  ensembl transcript: ENST00000504639
  gene symbol: PAIP1
  hgvsc: ENST00000504639.1:c.720A>G
  hgvsp: ENST00000504639.1:c.720A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000302768
  ensembl transcript: ENST00000306846
  gene symbol: PAIP1
  hgvsc: ENST00000306846.3:c.720A>G
  hgvsp: ENST00000306846.3:c.720A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000339622
  ensembl transcript: ENST00000338972
  gene symbol: PAIP1
  hgvsc: ENST00000338972.4:c.384A>G
  hgvsp: ENST00000338972.4:c.384A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425084
  ensembl transcript: ENST00000514514
  gene symbol: PAIP1
  hgvsc: ENST00000514514.1:c.483A>G
  hgvsp: ENST00000514514.1:c.483A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425736
  ensembl transcript: ENST00000508537
  gene symbol: PAIP1
  hgvsc: ENST00000508537.1:c.384A>G
  hgvsp: ENST00000508537.1:c.384A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000387729
  ensembl transcript: ENST00000436644
  gene symbol: PAIP1
  hgvsc: ENST00000436644.2:c.483A>G
  hgvsp: ENST00000436644.2:c.483A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19422
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27392
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7006
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2483
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6366
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gln240Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP

5-43543124-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43543124
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43543124
    reference: chr 5
allele count: 1
allele frequency: 8.244294947896055e-6
allele num: 121296
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000422084
  ensembl transcript: ENST00000504639
  gene symbol: PAIP1
  hgvsc: ENST00000504639.1:c.716G>A
  hgvsp: ENSP00000422084.1:p.Arg239His
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425736
  ensembl transcript: ENST00000508537
  gene symbol: PAIP1
  hgvsc: ENST00000508537.1:c.380G>A
  hgvsp: ENSP00000425736.1:p.Arg127His
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000302768
  ensembl transcript: ENST00000306846
  gene symbol: PAIP1
  hgvsc: ENST00000306846.3:c.716G>A
  hgvsp: ENSP00000302768.3:p.Arg239His
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000339622
  ensembl transcript: ENST00000338972
  gene symbol: PAIP1
  hgvsc: ENST00000338972.4:c.380G>A
  hgvsp: ENSP00000339622.4:p.Arg127His
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000387729
  ensembl transcript: ENST00000436644
  gene symbol: PAIP1
  hgvsc: ENST00000436644.2:c.479G>A
  hgvsp: ENSP00000387729.2:p.Arg160His
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425675
  ensembl transcript: ENST00000511321
  gene symbol: PAIP1
  hgvsc: ENST00000511321.1:c.380G>A
  hgvsp: ENSP00000425675.1:p.Arg127His
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425084
  ensembl transcript: ENST00000514514
  gene symbol: PAIP1
  hgvsc: ENST00000514514.1:c.479G>A
  hgvsp: ENSP00000425084.1:p.Arg160His
  variant of: http://identifiers.org/hgnc/16945
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7008
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27376
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19441
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1521
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6366
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg239His
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD

5-43543125-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43543125
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43543125
    reference: chr 5
allele count: 2
allele frequency: 1.648695881557688e-5
allele num: 121308
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425084
  ensembl transcript: ENST00000514514
  gene symbol: PAIP1
  hgvsc: ENST00000514514.1:c.478C>T
  hgvsp: ENSP00000425084.1:p.Arg160Cys
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000302768
  ensembl transcript: ENST00000306846
  gene symbol: PAIP1
  hgvsc: ENST00000306846.3:c.715C>T
  hgvsp: ENSP00000302768.3:p.Arg239Cys
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425736
  ensembl transcript: ENST00000508537
  gene symbol: PAIP1
  hgvsc: ENST00000508537.1:c.379C>T
  hgvsp: ENSP00000425736.1:p.Arg127Cys
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425675
  ensembl transcript: ENST00000511321
  gene symbol: PAIP1
  hgvsc: ENST00000511321.1:c.379C>T
  hgvsp: ENSP00000425675.1:p.Arg127Cys
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000339622
  ensembl transcript: ENST00000338972
  gene symbol: PAIP1
  hgvsc: ENST00000338972.4:c.379C>T
  hgvsp: ENSP00000339622.4:p.Arg127Cys
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000387729
  ensembl transcript: ENST00000436644
  gene symbol: PAIP1
  hgvsc: ENST00000436644.2:c.478C>T
  hgvsp: ENSP00000387729.2:p.Arg160Cys
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000422084
  ensembl transcript: ENST00000504639
  gene symbol: PAIP1
  hgvsc: ENST00000504639.1:c.715C>T
  hgvsp: ENSP00000422084.1:p.Arg239Cys
  variant of: http://identifiers.org/hgnc/16945
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7007
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19444
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27384
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1520
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1173
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg239Cys
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: QD

5-43543130-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43543130
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43543130
    reference: chr 5
allele count: 1
allele frequency: 8.243207596940122e-6
allele num: 121312
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000302768
  ensembl transcript: ENST00000306846
  gene symbol: PAIP1
  hgvsc: ENST00000306846.3:c.710A>T
  hgvsp: ENSP00000302768.3:p.Asn237Ile
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000387729
  ensembl transcript: ENST00000436644
  gene symbol: PAIP1
  hgvsc: ENST00000436644.2:c.473A>T
  hgvsp: ENSP00000387729.2:p.Asn158Ile
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425736
  ensembl transcript: ENST00000508537
  gene symbol: PAIP1
  hgvsc: ENST00000508537.1:c.374A>T
  hgvsp: ENSP00000425736.1:p.Asn125Ile
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000422084
  ensembl transcript: ENST00000504639
  gene symbol: PAIP1
  hgvsc: ENST00000504639.1:c.710A>T
  hgvsp: ENSP00000422084.1:p.Asn237Ile
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425084
  ensembl transcript: ENST00000514514
  gene symbol: PAIP1
  hgvsc: ENST00000514514.1:c.473A>T
  hgvsp: ENSP00000425084.1:p.Asn158Ile
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000339622
  ensembl transcript: ENST00000338972
  gene symbol: PAIP1
  hgvsc: ENST00000338972.4:c.374A>T
  hgvsp: ENSP00000339622.4:p.Asn125Ile
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425675
  ensembl transcript: ENST00000511321
  gene symbol: PAIP1
  hgvsc: ENST00000511321.1:c.374A>T
  hgvsp: ENSP00000425675.1:p.Asn125Ile
  variant of: http://identifiers.org/hgnc/16945
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27380
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7009
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2483
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19451
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1521
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45312
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3330
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Asn237Ile
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ

5-43543130-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43543130
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43543130
    reference: chr 5
allele count: 3
allele frequency: 2.472962279082036e-5
allele num: 121312
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000302768
  ensembl transcript: ENST00000306846
  gene symbol: PAIP1
  hgvsc: ENST00000306846.3:c.710A>G
  hgvsp: ENSP00000302768.3:p.Asn237Ser
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000422084
  ensembl transcript: ENST00000504639
  gene symbol: PAIP1
  hgvsc: ENST00000504639.1:c.710A>G
  hgvsp: ENSP00000422084.1:p.Asn237Ser
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425084
  ensembl transcript: ENST00000514514
  gene symbol: PAIP1
  hgvsc: ENST00000514514.1:c.473A>G
  hgvsp: ENSP00000425084.1:p.Asn158Ser
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425736
  ensembl transcript: ENST00000508537
  gene symbol: PAIP1
  hgvsc: ENST00000508537.1:c.374A>G
  hgvsp: ENSP00000425736.1:p.Asn125Ser
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000387729
  ensembl transcript: ENST00000436644
  gene symbol: PAIP1
  hgvsc: ENST00000436644.2:c.473A>G
  hgvsp: ENSP00000387729.2:p.Asn158Ser
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000339622
  ensembl transcript: ENST00000338972
  gene symbol: PAIP1
  hgvsc: ENST00000338972.4:c.374A>G
  hgvsp: ENSP00000339622.4:p.Asn125Ser
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425675
  ensembl transcript: ENST00000511321
  gene symbol: PAIP1
  hgvsc: ENST00000511321.1:c.374A>G
  hgvsp: ENSP00000425675.1:p.Asn125Ser
  variant of: http://identifiers.org/hgnc/16945
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2483
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7009
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27380
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19451
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1760
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1173
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asn237Ser
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

5-43543130-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43543130
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43543130
    reference: chr 5
allele count: 1
allele frequency: 8.243207596940122e-6
allele num: 121312
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425736
  ensembl transcript: ENST00000508537
  gene symbol: PAIP1
  hgvsc: ENST00000508537.1:c.374A>C
  hgvsp: ENSP00000425736.1:p.Asn125Thr
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000302768
  ensembl transcript: ENST00000306846
  gene symbol: PAIP1
  hgvsc: ENST00000306846.3:c.710A>C
  hgvsp: ENSP00000302768.3:p.Asn237Thr
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000339622
  ensembl transcript: ENST00000338972
  gene symbol: PAIP1
  hgvsc: ENST00000338972.4:c.374A>C
  hgvsp: ENSP00000339622.4:p.Asn125Thr
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000387729
  ensembl transcript: ENST00000436644
  gene symbol: PAIP1
  hgvsc: ENST00000436644.2:c.473A>C
  hgvsp: ENSP00000387729.2:p.Asn158Thr
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425675
  ensembl transcript: ENST00000511321
  gene symbol: PAIP1
  hgvsc: ENST00000511321.1:c.374A>C
  hgvsp: ENSP00000425675.1:p.Asn125Thr
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425084
  ensembl transcript: ENST00000514514
  gene symbol: PAIP1
  hgvsc: ENST00000514514.1:c.473A>C
  hgvsp: ENSP00000425084.1:p.Asn158Thr
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000422084
  ensembl transcript: ENST00000504639
  gene symbol: PAIP1
  hgvsc: ENST00000504639.1:c.710A>C
  hgvsp: ENSP00000422084.1:p.Asn237Thr
  variant of: http://identifiers.org/hgnc/16945
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27380
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19451
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2483
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7009
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1173
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1760
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asn237Thr
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: T
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

5-43543136-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43543136
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43543136
    reference: chr 5
allele count: 3
allele frequency: 2.472758444470088e-5
allele num: 121322
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000302768
  ensembl transcript: ENST00000306846
  gene symbol: PAIP1
  hgvsc: ENST00000306846.3:c.704G>A
  hgvsp: ENSP00000302768.3:p.Ser235Asn
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000422084
  ensembl transcript: ENST00000504639
  gene symbol: PAIP1
  hgvsc: ENST00000504639.1:c.704G>A
  hgvsp: ENSP00000422084.1:p.Ser235Asn
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000387729
  ensembl transcript: ENST00000436644
  gene symbol: PAIP1
  hgvsc: ENST00000436644.2:c.467G>A
  hgvsp: ENSP00000387729.2:p.Ser156Asn
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000339622
  ensembl transcript: ENST00000338972
  gene symbol: PAIP1
  hgvsc: ENST00000338972.4:c.368G>A
  hgvsp: ENSP00000339622.4:p.Ser123Asn
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425084
  ensembl transcript: ENST00000514514
  gene symbol: PAIP1
  hgvsc: ENST00000514514.1:c.467G>A
  hgvsp: ENSP00000425084.1:p.Ser156Asn
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425675
  ensembl transcript: ENST00000511321
  gene symbol: PAIP1
  hgvsc: ENST00000511321.1:c.368G>A
  hgvsp: ENSP00000425675.1:p.Ser123Asn
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425736
  ensembl transcript: ENST00000508537
  gene symbol: PAIP1
  hgvsc: ENST00000508537.1:c.368G>A
  hgvsp: ENSP00000425736.1:p.Ser123Asn
  variant of: http://identifiers.org/hgnc/16945
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27373
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19467
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7013
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2483
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3328
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser235Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

5-43543144-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43543144
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43543144
    reference: chr 5
allele count: 6
allele frequency: 4.94486475794887e-5
allele num: 121338
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425736
  ensembl transcript: ENST00000508537
  gene symbol: PAIP1
  hgvsc: ENST00000508537.1:c.360C>T
  hgvsp: ENST00000508537.1:c.360C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425084
  ensembl transcript: ENST00000514514
  gene symbol: PAIP1
  hgvsc: ENST00000514514.1:c.459C>T
  hgvsp: ENST00000514514.1:c.459C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000339622
  ensembl transcript: ENST00000338972
  gene symbol: PAIP1
  hgvsc: ENST00000338972.4:c.360C>T
  hgvsp: ENST00000338972.4:c.360C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000302768
  ensembl transcript: ENST00000306846
  gene symbol: PAIP1
  hgvsc: ENST00000306846.3:c.696C>T
  hgvsp: ENST00000306846.3:c.696C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425675
  ensembl transcript: ENST00000511321
  gene symbol: PAIP1
  hgvsc: ENST00000511321.1:c.360C>T
  hgvsp: ENST00000511321.1:c.360C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000422084
  ensembl transcript: ENST00000504639
  gene symbol: PAIP1
  hgvsc: ENST00000504639.1:c.696C>T
  hgvsp: ENST00000504639.1:c.696C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000387729
  ensembl transcript: ENST00000436644
  gene symbol: PAIP1
  hgvsc: ENST00000436644.2:c.459C>T
  hgvsp: ENST00000436644.2:c.459C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19473
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7014
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27372
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1761
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser232Ser
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

5-43543149-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43543149
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43543149
    reference: chr 5
allele count: 33
allele frequency: 2.719451494874246e-4
allele num: 121348
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425736
  ensembl transcript: ENST00000508537
  gene symbol: PAIP1
  hgvsc: ENST00000508537.1:c.355A>G
  hgvsp: ENSP00000425736.1:p.Ile119Val
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000387729
  ensembl transcript: ENST00000436644
  gene symbol: PAIP1
  hgvsc: ENST00000436644.2:c.454A>G
  hgvsp: ENSP00000387729.2:p.Ile152Val
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425084
  ensembl transcript: ENST00000514514
  gene symbol: PAIP1
  hgvsc: ENST00000514514.1:c.454A>G
  hgvsp: ENSP00000425084.1:p.Ile152Val
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000422084
  ensembl transcript: ENST00000504639
  gene symbol: PAIP1
  hgvsc: ENST00000504639.1:c.691A>G
  hgvsp: ENSP00000422084.1:p.Ile231Val
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000302768
  ensembl transcript: ENST00000306846
  gene symbol: PAIP1
  hgvsc: ENST00000306846.3:c.691A>G
  hgvsp: ENSP00000302768.3:p.Ile231Val
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000339622
  ensembl transcript: ENST00000338972
  gene symbol: PAIP1
  hgvsc: ENST00000338972.4:c.355A>G
  hgvsp: ENSP00000339622.4:p.Ile119Val
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425675
  ensembl transcript: ENST00000511321
  gene symbol: PAIP1
  hgvsc: ENST00000511321.1:c.355A>G
  hgvsp: ENSP00000425675.1:p.Ile119Val
  variant of: http://identifiers.org/hgnc/16945
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27368
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2480
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19464
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7017
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6370
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ile231Val
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

5-43543152-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43543152
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43543152
    reference: chr 5
allele count: 3
allele frequency: 2.47222863170386e-5
allele num: 121348
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000339622
  ensembl transcript: ENST00000338972
  gene symbol: PAIP1
  hgvsc: ENST00000338972.4:c.352A>G
  hgvsp: ENSP00000339622.4:p.Thr118Ala
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000422084
  ensembl transcript: ENST00000504639
  gene symbol: PAIP1
  hgvsc: ENST00000504639.1:c.688A>G
  hgvsp: ENSP00000422084.1:p.Thr230Ala
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425736
  ensembl transcript: ENST00000508537
  gene symbol: PAIP1
  hgvsc: ENST00000508537.1:c.352A>G
  hgvsp: ENSP00000425736.1:p.Thr118Ala
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000302768
  ensembl transcript: ENST00000306846
  gene symbol: PAIP1
  hgvsc: ENST00000306846.3:c.688A>G
  hgvsp: ENSP00000302768.3:p.Thr230Ala
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000387729
  ensembl transcript: ENST00000436644
  gene symbol: PAIP1
  hgvsc: ENST00000436644.2:c.451A>G
  hgvsp: ENSP00000387729.2:p.Thr151Ala
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425084
  ensembl transcript: ENST00000514514
  gene symbol: PAIP1
  hgvsc: ENST00000514514.1:c.451A>G
  hgvsp: ENSP00000425084.1:p.Thr151Ala
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425675
  ensembl transcript: ENST00000511321
  gene symbol: PAIP1
  hgvsc: ENST00000511321.1:c.352A>G
  hgvsp: ENSP00000425675.1:p.Thr118Ala
  variant of: http://identifiers.org/hgnc/16945
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27361
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7024
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19478
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1519
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3323
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1169
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6377
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr230Ala
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

5-43543153-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43543153
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43543153
    reference: chr 5
allele count: 24
allele frequency: 1.977782905363088e-4
allele num: 121348
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425675
  ensembl transcript: ENST00000511321
  gene symbol: PAIP1
  hgvsc: ENST00000511321.1:c.351G>A
  hgvsp: ENST00000511321.1:c.351G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425084
  ensembl transcript: ENST00000514514
  gene symbol: PAIP1
  hgvsc: ENST00000514514.1:c.450G>A
  hgvsp: ENST00000514514.1:c.450G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000422084
  ensembl transcript: ENST00000504639
  gene symbol: PAIP1
  hgvsc: ENST00000504639.1:c.687G>A
  hgvsp: ENST00000504639.1:c.687G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000387729
  ensembl transcript: ENST00000436644
  gene symbol: PAIP1
  hgvsc: ENST00000436644.2:c.450G>A
  hgvsp: ENST00000436644.2:c.450G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000302768
  ensembl transcript: ENST00000306846
  gene symbol: PAIP1
  hgvsc: ENST00000306846.3:c.687G>A
  hgvsp: ENST00000306846.3:c.687G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425736
  ensembl transcript: ENST00000508537
  gene symbol: PAIP1
  hgvsc: ENST00000508537.1:c.351G>A
  hgvsp: ENST00000508537.1:c.351G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000339622
  ensembl transcript: ENST00000338972
  gene symbol: PAIP1
  hgvsc: ENST00000338972.4:c.351G>A
  hgvsp: ENST00000338972.4:c.351G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19475
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27348
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7022
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1519
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1166
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu229Leu
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

5-43543159-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43543159
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43543159
    reference: chr 5
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000387729
  ensembl transcript: ENST00000436644
  gene symbol: PAIP1
  hgvsc: ENST00000436644.2:c.444T>A
  hgvsp: ENSP00000387729.2:p.His148Gln
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000302768
  ensembl transcript: ENST00000306846
  gene symbol: PAIP1
  hgvsc: ENST00000306846.3:c.681T>A
  hgvsp: ENSP00000302768.3:p.His227Gln
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425675
  ensembl transcript: ENST00000511321
  gene symbol: PAIP1
  hgvsc: ENST00000511321.1:c.345T>A
  hgvsp: ENSP00000425675.1:p.His115Gln
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425084
  ensembl transcript: ENST00000514514
  gene symbol: PAIP1
  hgvsc: ENST00000514514.1:c.444T>A
  hgvsp: ENSP00000425084.1:p.His148Gln
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425736
  ensembl transcript: ENST00000508537
  gene symbol: PAIP1
  hgvsc: ENST00000508537.1:c.345T>A
  hgvsp: ENSP00000425736.1:p.His115Gln
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000339622
  ensembl transcript: ENST00000338972
  gene symbol: PAIP1
  hgvsc: ENST00000338972.4:c.345T>A
  hgvsp: ENSP00000339622.4:p.His115Gln
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000422084
  ensembl transcript: ENST00000504639
  gene symbol: PAIP1
  hgvsc: ENST00000504639.1:c.681T>A
  hgvsp: ENSP00000422084.1:p.His227Gln
  variant of: http://identifiers.org/hgnc/16945
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27342
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19491
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7023
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1520
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1166
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.His227Gln
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

5-43543177-CAGGCGAGCTCCCAT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43543177
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43543163
    reference: chr 5
allele count: 1
allele frequency: 8.244294947896055e-6
allele num: 121296
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: frameshift_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000427410
  ensembl transcript: ENST00000504075
  gene symbol: PAIP1
  hgvsp: ENSP00000427410.1:p.Met1_?5
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425675
  ensembl transcript: ENST00000511321
  gene symbol: PAIP1
  hgvsp: ENSP00000425675.1:p.Met105ValfsTer2
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000302768
  ensembl transcript: ENST00000306846
  gene symbol: PAIP1
  hgvsp: ENSP00000302768.3:p.Met217ValfsTer2
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425736
  ensembl transcript: ENST00000508537
  gene symbol: PAIP1
  hgvsp: ENSP00000425736.1:p.Met105ValfsTer2
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425084
  ensembl transcript: ENST00000514514
  gene symbol: PAIP1
  hgvsp: ENSP00000425084.1:p.Met138ValfsTer2
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000422084
  ensembl transcript: ENST00000504639
  gene symbol: PAIP1
  hgvsp: ENSP00000422084.1:p.Met217ValfsTer2
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000387729
  ensembl transcript: ENST00000436644
  gene symbol: PAIP1
  hgvsp: ENSP00000387729.2:p.Met138ValfsTer2
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000339622
  ensembl transcript: ENST00000338972
  gene symbol: PAIP1
  hgvsp: ENSP00000339622.4:p.Met105ValfsTer2
  variant of: http://identifiers.org/hgnc/16945
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19501
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7027
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27270
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1166
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Met217ValfsTer2
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
reference allele: CAGGCGAGCTCCCAT
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

5-43543191-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43543191
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43543191
    reference: chr 5
allele count: 15
allele frequency: 1.237276671560783e-4
allele num: 121234
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000339622
  ensembl transcript: ENST00000338972
  gene symbol: PAIP1
  hgvsc: ENST00000338972.4:c.313A>T
  hgvsp: ENSP00000339622.4:p.Met105Leu
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000387729
  ensembl transcript: ENST00000436644
  gene symbol: PAIP1
  hgvsc: ENST00000436644.2:c.412A>T
  hgvsp: ENSP00000387729.2:p.Met138Leu
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425675
  ensembl transcript: ENST00000511321
  gene symbol: PAIP1
  hgvsc: ENST00000511321.1:c.313A>T
  hgvsp: ENSP00000425675.1:p.Met105Leu
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000302768
  ensembl transcript: ENST00000306846
  gene symbol: PAIP1
  hgvsc: ENST00000306846.3:c.649A>T
  hgvsp: ENSP00000302768.3:p.Met217Leu
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000422084
  ensembl transcript: ENST00000504639
  gene symbol: PAIP1
  hgvsc: ENST00000504639.1:c.649A>T
  hgvsp: ENSP00000422084.1:p.Met217Leu
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000427410
  ensembl transcript: ENST00000504075
  gene symbol: PAIP1
  hgvsc: ENST00000504075.1:c.1A>T
  hgvsp: ENSP00000427410.1:p.Met1?
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425736
  ensembl transcript: ENST00000508537
  gene symbol: PAIP1
  hgvsc: ENST00000508537.1:c.313A>T
  hgvsp: ENSP00000425736.1:p.Met105Leu
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425084
  ensembl transcript: ENST00000514514
  gene symbol: PAIP1
  hgvsc: ENST00000514514.1:c.412A>T
  hgvsp: ENSP00000425084.1:p.Met138Leu
  variant of: http://identifiers.org/hgnc/16945
canonical: false
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27214
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2480
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19461
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7024
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1743
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

5-43543192-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43543192
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43543192
    reference: chr 5
allele count: 1
allele frequency: 8.24905548314718e-6
allele num: 121226
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000387729
  ensembl transcript: ENST00000436644
  gene symbol: PAIP1
  hgvsc: ENST00000436644.2:c.411T>C
  hgvsp: ENST00000436644.2:c.411T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425736
  ensembl transcript: ENST00000508537
  gene symbol: PAIP1
  hgvsc: ENST00000508537.1:c.312T>C
  hgvsp: ENST00000508537.1:c.312T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000339622
  ensembl transcript: ENST00000338972
  gene symbol: PAIP1
  hgvsc: ENST00000338972.4:c.312T>C
  hgvsp: ENST00000338972.4:c.312T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000422084
  ensembl transcript: ENST00000504639
  gene symbol: PAIP1
  hgvsc: ENST00000504639.1:c.648T>C
  hgvsp: ENST00000504639.1:c.648T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425675
  ensembl transcript: ENST00000511321
  gene symbol: PAIP1
  hgvsc: ENST00000511321.1:c.312T>C
  hgvsp: ENST00000511321.1:c.312T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425084
  ensembl transcript: ENST00000514514
  gene symbol: PAIP1
  hgvsc: ENST00000514514.1:c.411T>C
  hgvsp: ENST00000514514.1:c.411T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000427410
  ensembl transcript: ENST00000504075
  gene symbol: PAIP1
  hgvsc: ENST00000504075.1:c.-1T>C
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000302768
  ensembl transcript: ENST00000306846
  gene symbol: PAIP1
  hgvsc: ENST00000306846.3:c.648T>C
  hgvsp: ENST00000306846.3:c.648T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19464
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27211
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7024
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45190
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Tyr216Tyr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum

5-43543201-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43543201
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43543201
    reference: chr 5
allele count: 1
allele frequency: 8.251369727374745e-6
allele num: 121192
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000422084
  ensembl transcript: ENST00000504639
  gene symbol: PAIP1
  hgvsc: ENST00000504639.1:c.639T>C
  hgvsp: ENST00000504639.1:c.639T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000302768
  ensembl transcript: ENST00000306846
  gene symbol: PAIP1
  hgvsc: ENST00000306846.3:c.639T>C
  hgvsp: ENST00000306846.3:c.639T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000339622
  ensembl transcript: ENST00000338972
  gene symbol: PAIP1
  hgvsc: ENST00000338972.4:c.303T>C
  hgvsp: ENST00000338972.4:c.303T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425736
  ensembl transcript: ENST00000508537
  gene symbol: PAIP1
  hgvsc: ENST00000508537.1:c.303T>C
  hgvsp: ENST00000508537.1:c.303T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425675
  ensembl transcript: ENST00000511321
  gene symbol: PAIP1
  hgvsc: ENST00000511321.1:c.303T>C
  hgvsp: ENST00000511321.1:c.303T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425084
  ensembl transcript: ENST00000514514
  gene symbol: PAIP1
  hgvsc: ENST00000514514.1:c.402T>C
  hgvsp: ENST00000514514.1:c.402T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000427410
  ensembl transcript: ENST00000504075
  gene symbol: PAIP1
  hgvsc: ENST00000504075.1:c.-10T>C
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000387729
  ensembl transcript: ENST00000436644
  gene symbol: PAIP1
  hgvsc: ENST00000436644.2:c.402T>C
  hgvsp: ENST00000436644.2:c.402T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27170
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19461
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7023
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2483
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1516
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45168
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asn213Asn
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

5-43543203-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43543203
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43543203
    reference: chr 5
allele count: 1
allele frequency: 8.253821519363466e-6
allele num: 121156
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000302768
  ensembl transcript: ENST00000306846
  gene symbol: PAIP1
  hgvsc: ENST00000306846.3:c.637A>G
  hgvsp: ENSP00000302768.3:p.Asn213Asp
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425084
  ensembl transcript: ENST00000514514
  gene symbol: PAIP1
  hgvsc: ENST00000514514.1:c.400A>G
  hgvsp: ENSP00000425084.1:p.Asn134Asp
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425736
  ensembl transcript: ENST00000508537
  gene symbol: PAIP1
  hgvsc: ENST00000508537.1:c.301A>G
  hgvsp: ENSP00000425736.1:p.Asn101Asp
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000422084
  ensembl transcript: ENST00000504639
  gene symbol: PAIP1
  hgvsc: ENST00000504639.1:c.637A>G
  hgvsp: ENSP00000422084.1:p.Asn213Asp
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000339622
  ensembl transcript: ENST00000338972
  gene symbol: PAIP1
  hgvsc: ENST00000338972.4:c.301A>G
  hgvsp: ENSP00000339622.4:p.Asn101Asp
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000387729
  ensembl transcript: ENST00000436644
  gene symbol: PAIP1
  hgvsc: ENST00000436644.2:c.400A>G
  hgvsp: ENSP00000387729.2:p.Asn134Asp
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425675
  ensembl transcript: ENST00000511321
  gene symbol: PAIP1
  hgvsc: ENST00000511321.1:c.301A>G
  hgvsp: ENSP00000425675.1:p.Asn101Asp
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000427410
  ensembl transcript: ENST00000504075
  gene symbol: PAIP1
  hgvsc: ENST00000504075.1:c.-12A>G
  variant of: http://identifiers.org/hgnc/16945
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27103
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7029
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19462
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1515
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asn213Asp
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

5-43543204-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43543204
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43543204
    reference: chr 5
allele count: 4
allele frequency: 3.302182742792986e-5
allele num: 121132
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425675
  ensembl transcript: ENST00000511321
  gene symbol: PAIP1
  hgvsc: ENST00000511321.1:c.300A>G
  hgvsp: ENST00000511321.1:c.300A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000302768
  ensembl transcript: ENST00000306846
  gene symbol: PAIP1
  hgvsc: ENST00000306846.3:c.636A>G
  hgvsp: ENST00000306846.3:c.636A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425736
  ensembl transcript: ENST00000508537
  gene symbol: PAIP1
  hgvsc: ENST00000508537.1:c.300A>G
  hgvsp: ENST00000508537.1:c.300A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000339622
  ensembl transcript: ENST00000338972
  gene symbol: PAIP1
  hgvsc: ENST00000338972.4:c.300A>G
  hgvsp: ENST00000338972.4:c.300A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425084
  ensembl transcript: ENST00000514514
  gene symbol: PAIP1
  hgvsc: ENST00000514514.1:c.399A>G
  hgvsp: ENST00000514514.1:c.399A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000387729
  ensembl transcript: ENST00000436644
  gene symbol: PAIP1
  hgvsc: ENST00000436644.2:c.399A>G
  hgvsp: ENST00000436644.2:c.399A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000427410
  ensembl transcript: ENST00000504075
  gene symbol: PAIP1
  hgvsc: ENST00000504075.1:c.-13A>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000422084
  ensembl transcript: ENST00000504639
  gene symbol: PAIP1
  hgvsc: ENST00000504639.1:c.636A>G
  hgvsp: ENST00000504639.1:c.636A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27074
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2483
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19464
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7030
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3315
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro212Pro
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ

5-43543205-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43543205
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43543205
    reference: chr 5
allele count: 1
allele frequency: 8.255184255712587e-6
allele num: 121136
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425084
  ensembl transcript: ENST00000514514
  gene symbol: PAIP1
  hgvsc: ENST00000514514.1:c.398C>G
  hgvsp: ENSP00000425084.1:p.Pro133Arg
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425736
  ensembl transcript: ENST00000508537
  gene symbol: PAIP1
  hgvsc: ENST00000508537.1:c.299C>G
  hgvsp: ENSP00000425736.1:p.Pro100Arg
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000339622
  ensembl transcript: ENST00000338972
  gene symbol: PAIP1
  hgvsc: ENST00000338972.4:c.299C>G
  hgvsp: ENSP00000339622.4:p.Pro100Arg
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000387729
  ensembl transcript: ENST00000436644
  gene symbol: PAIP1
  hgvsc: ENST00000436644.2:c.398C>G
  hgvsp: ENSP00000387729.2:p.Pro133Arg
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000302768
  ensembl transcript: ENST00000306846
  gene symbol: PAIP1
  hgvsc: ENST00000306846.3:c.635C>G
  hgvsp: ENSP00000302768.3:p.Pro212Arg
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000422084
  ensembl transcript: ENST00000504639
  gene symbol: PAIP1
  hgvsc: ENST00000504639.1:c.635C>G
  hgvsp: ENSP00000422084.1:p.Pro212Arg
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425675
  ensembl transcript: ENST00000511321
  gene symbol: PAIP1
  hgvsc: ENST00000511321.1:c.299C>G
  hgvsp: ENSP00000425675.1:p.Pro100Arg
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000427410
  ensembl transcript: ENST00000504075
  gene symbol: PAIP1
  hgvsc: ENST00000504075.1:c.-14C>G
  variant of: http://identifiers.org/hgnc/16945
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27068
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7029
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19469
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6340
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3312
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro212Arg
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum

5-43543209-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43543209
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43543209
    reference: chr 5
allele count: 1
allele frequency: 8.260776182530111e-6
allele num: 121054
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000387729
  ensembl transcript: ENST00000436644
  gene symbol: PAIP1
  hgvsc: ENST00000436644.2:c.394A>G
  hgvsp: ENSP00000387729.2:p.Ile132Val
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000422084
  ensembl transcript: ENST00000504639
  gene symbol: PAIP1
  hgvsc: ENST00000504639.1:c.631A>G
  hgvsp: ENSP00000422084.1:p.Ile211Val
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000427410
  ensembl transcript: ENST00000504075
  gene symbol: PAIP1
  hgvsc: ENST00000504075.1:c.-18A>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425675
  ensembl transcript: ENST00000511321
  gene symbol: PAIP1
  hgvsc: ENST00000511321.1:c.295A>G
  hgvsp: ENSP00000425675.1:p.Ile99Val
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000339622
  ensembl transcript: ENST00000338972
  gene symbol: PAIP1
  hgvsc: ENST00000338972.4:c.295A>G
  hgvsp: ENSP00000339622.4:p.Ile99Val
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425736
  ensembl transcript: ENST00000508537
  gene symbol: PAIP1
  hgvsc: ENST00000508537.1:c.295A>G
  hgvsp: ENSP00000425736.1:p.Ile99Val
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425084
  ensembl transcript: ENST00000514514
  gene symbol: PAIP1
  hgvsc: ENST00000514514.1:c.394A>G
  hgvsp: ENSP00000425084.1:p.Ile132Val
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000302768
  ensembl transcript: ENST00000306846
  gene symbol: PAIP1
  hgvsc: ENST00000306846.3:c.631A>G
  hgvsp: ENSP00000302768.3:p.Ile211Val
  variant of: http://identifiers.org/hgnc/16945
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7032
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26934
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19471
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2483
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1166
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1511
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ile211Val
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

5-43543212-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43543212
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43543212
    reference: chr 5
allele count: 1
allele frequency: 8.267059076404159e-6
allele num: 120962
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000339622
  ensembl transcript: ENST00000338972
  gene symbol: PAIP1
  hgvsc: ENST00000338972.4:c.292T>A
  hgvsp: ENSP00000339622.4:p.Ser98Thr
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425736
  ensembl transcript: ENST00000508537
  gene symbol: PAIP1
  hgvsc: ENST00000508537.1:c.292T>A
  hgvsp: ENSP00000425736.1:p.Ser98Thr
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425675
  ensembl transcript: ENST00000511321
  gene symbol: PAIP1
  hgvsc: ENST00000511321.1:c.292T>A
  hgvsp: ENSP00000425675.1:p.Ser98Thr
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425084
  ensembl transcript: ENST00000514514
  gene symbol: PAIP1
  hgvsc: ENST00000514514.1:c.391T>A
  hgvsp: ENSP00000425084.1:p.Ser131Thr
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000387729
  ensembl transcript: ENST00000436644
  gene symbol: PAIP1
  hgvsc: ENST00000436644.2:c.391T>A
  hgvsp: ENSP00000387729.2:p.Ser131Thr
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000422084
  ensembl transcript: ENST00000504639
  gene symbol: PAIP1
  hgvsc: ENST00000504639.1:c.628T>A
  hgvsp: ENSP00000422084.1:p.Ser210Thr
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000302768
  ensembl transcript: ENST00000306846
  gene symbol: PAIP1
  hgvsc: ENST00000306846.3:c.628T>A
  hgvsp: ENSP00000302768.3:p.Ser210Thr
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000427410
  ensembl transcript: ENST00000504075
  gene symbol: PAIP1
  hgvsc: ENST00000504075.1:c.-21T>A
  variant of: http://identifiers.org/hgnc/16945
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26801
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19422
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7036
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1166
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6322
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser210Thr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

5-43543216-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43543216
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43543216
    reference: chr 5
allele count: 1
allele frequency: 8.281847845891375e-6
allele num: 120746
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000302768
  ensembl transcript: ENST00000306846
  gene symbol: PAIP1
  hgvsc: ENST00000306846.3:c.624C>T
  hgvsp: ENST00000306846.3:c.624C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425084
  ensembl transcript: ENST00000514514
  gene symbol: PAIP1
  hgvsc: ENST00000514514.1:c.387C>T
  hgvsp: ENST00000514514.1:c.387C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425675
  ensembl transcript: ENST00000511321
  gene symbol: PAIP1
  hgvsc: ENST00000511321.1:c.288C>T
  hgvsp: ENST00000511321.1:c.288C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000422084
  ensembl transcript: ENST00000504639
  gene symbol: PAIP1
  hgvsc: ENST00000504639.1:c.624C>T
  hgvsp: ENST00000504639.1:c.624C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000387729
  ensembl transcript: ENST00000436644
  gene symbol: PAIP1
  hgvsc: ENST00000436644.2:c.387C>T
  hgvsp: ENST00000436644.2:c.387C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000339622
  ensembl transcript: ENST00000338972
  gene symbol: PAIP1
  hgvsc: ENST00000338972.4:c.288C>T
  hgvsp: ENST00000338972.4:c.288C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425736
  ensembl transcript: ENST00000508537
  gene symbol: PAIP1
  hgvsc: ENST00000508537.1:c.288C>T
  hgvsp: ENST00000508537.1:c.288C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000427410
  ensembl transcript: ENST00000504075
  gene symbol: PAIP1
  hgvsc: ENST00000504075.1:c.-25C>T
  variant of: http://identifiers.org/hgnc/16945
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26512
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19392
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7021
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44413
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
hgvs: c.624C>T
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

5-43543218-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43543218
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43543218
    reference: chr 5
allele count: 1
allele frequency: 8.288987251537607e-6
allele num: 120642
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000339622
  ensembl transcript: ENST00000338972
  gene symbol: PAIP1
  hgvsc: ENST00000338972.4:c.286G>A
  hgvsp: ENSP00000339622.4:p.Ala96Thr
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425675
  ensembl transcript: ENST00000511321
  gene symbol: PAIP1
  hgvsc: ENST00000511321.1:c.286G>A
  hgvsp: ENSP00000425675.1:p.Ala96Thr
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425736
  ensembl transcript: ENST00000508537
  gene symbol: PAIP1
  hgvsc: ENST00000508537.1:c.286G>A
  hgvsp: ENSP00000425736.1:p.Ala96Thr
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000422084
  ensembl transcript: ENST00000504639
  gene symbol: PAIP1
  hgvsc: ENST00000504639.1:c.622G>A
  hgvsp: ENSP00000422084.1:p.Ala208Thr
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000302768
  ensembl transcript: ENST00000306846
  gene symbol: PAIP1
  hgvsc: ENST00000306846.3:c.622G>A
  hgvsp: ENSP00000302768.3:p.Ala208Thr
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425084
  ensembl transcript: ENST00000514514
  gene symbol: PAIP1
  hgvsc: ENST00000514514.1:c.385G>A
  hgvsp: ENSP00000425084.1:p.Ala129Thr
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000427410
  ensembl transcript: ENST00000504075
  gene symbol: PAIP1
  hgvsc: ENST00000504075.1:c.-27G>A
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000387729
  ensembl transcript: ENST00000436644
  gene symbol: PAIP1
  hgvsc: ENST00000436644.2:c.385G>A
  hgvsp: ENSP00000387729.2:p.Ala129Thr
  variant of: http://identifiers.org/hgnc/16945
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2480
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26324
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7027
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19387
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 894
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala208Thr
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP

5-43543223-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43543223
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43543223
    reference: chr 5
allele count: 1
allele frequency: 8.314487162431821e-6
allele num: 120272
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000427410
  ensembl transcript: ENST00000504075
  gene symbol: PAIP1
  hgvsc: ENST00000504075.1:c.-27-5A>T
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000422084
  ensembl transcript: ENST00000504639
  gene symbol: PAIP1
  hgvsc: ENST00000504639.1:c.622-5A>T
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425736
  ensembl transcript: ENST00000508537
  gene symbol: PAIP1
  hgvsc: ENST00000508537.1:c.286-5A>T
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000302768
  ensembl transcript: ENST00000306846
  gene symbol: PAIP1
  hgvsc: ENST00000306846.3:c.622-5A>T
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425084
  ensembl transcript: ENST00000514514
  gene symbol: PAIP1
  hgvsc: ENST00000514514.1:c.385-5A>T
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000339622
  ensembl transcript: ENST00000338972
  gene symbol: PAIP1
  hgvsc: ENST00000338972.4:c.286-5A>T
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425675
  ensembl transcript: ENST00000511321
  gene symbol: PAIP1
  hgvsc: ENST00000511321.1:c.286-5A>T
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000387729
  ensembl transcript: ENST00000436644
  gene symbol: PAIP1
  hgvsc: ENST00000436644.2:c.385-5A>T
  variant of: http://identifiers.org/hgnc/16945
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19334
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7022
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25735
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1156
  bin: 8.25e1
  variant carriers: 0
hgvs: c.622-5A>T
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

5-43543225-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43543225
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43543225
    reference: chr 5
allele count: 1
allele frequency: 8.342649291709075e-6
allele num: 119866
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000302768
  ensembl transcript: ENST00000306846
  gene symbol: PAIP1
  hgvsc: ENST00000306846.3:c.622-7T>C
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000339622
  ensembl transcript: ENST00000338972
  gene symbol: PAIP1
  hgvsc: ENST00000338972.4:c.286-7T>C
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425084
  ensembl transcript: ENST00000514514
  gene symbol: PAIP1
  hgvsc: ENST00000514514.1:c.385-7T>C
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000427410
  ensembl transcript: ENST00000504075
  gene symbol: PAIP1
  hgvsc: ENST00000504075.1:c.-27-7T>C
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425675
  ensembl transcript: ENST00000511321
  gene symbol: PAIP1
  hgvsc: ENST00000511321.1:c.286-7T>C
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425736
  ensembl transcript: ENST00000508537
  gene symbol: PAIP1
  hgvsc: ENST00000508537.1:c.286-7T>C
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000387729
  ensembl transcript: ENST00000436644
  gene symbol: PAIP1
  hgvsc: ENST00000436644.2:c.385-7T>C
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000422084
  ensembl transcript: ENST00000504639
  gene symbol: PAIP1
  hgvsc: ENST00000504639.1:c.622-7T>C
  variant of: http://identifiers.org/hgnc/16945
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24954
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7009
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19252
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6206
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 8.75e1
  variant carriers: 0
hgvs: c.622-7T>C
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ

5-43543229-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43543229
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43543229
    reference: chr 5
allele count: 3
allele frequency: 2.507145364288222e-5
allele num: 119658
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000339622
  ensembl transcript: ENST00000338972
  gene symbol: PAIP1
  hgvsc: ENST00000338972.4:c.286-11C>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000427410
  ensembl transcript: ENST00000504075
  gene symbol: PAIP1
  hgvsc: ENST00000504075.1:c.-27-11C>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425675
  ensembl transcript: ENST00000511321
  gene symbol: PAIP1
  hgvsc: ENST00000511321.1:c.286-11C>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000387729
  ensembl transcript: ENST00000436644
  gene symbol: PAIP1
  hgvsc: ENST00000436644.2:c.385-11C>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425736
  ensembl transcript: ENST00000508537
  gene symbol: PAIP1
  hgvsc: ENST00000508537.1:c.286-11C>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425084
  ensembl transcript: ENST00000514514
  gene symbol: PAIP1
  hgvsc: ENST00000514514.1:c.385-11C>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000422084
  ensembl transcript: ENST00000504639
  gene symbol: PAIP1
  hgvsc: ENST00000504639.1:c.622-11C>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000302768
  ensembl transcript: ENST00000306846
  gene symbol: PAIP1
  hgvsc: ENST00000306846.3:c.622-11C>G
  variant of: http://identifiers.org/hgnc/16945
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19161
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6990
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24458
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2347
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1723
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/5-43543231-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43543231
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43543231
    reference: chr 5
allele count: 6
allele frequency: 5.018736616702355e-5
allele num: 119552
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000387729
  ensembl transcript: ENST00000436644
  gene symbol: PAIP1
  hgvsc: ENST00000436644.2:c.385-13T>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000302768
  ensembl transcript: ENST00000306846
  gene symbol: PAIP1
  hgvsc: ENST00000306846.3:c.622-13T>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000339622
  ensembl transcript: ENST00000338972
  gene symbol: PAIP1
  hgvsc: ENST00000338972.4:c.286-13T>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425675
  ensembl transcript: ENST00000511321
  gene symbol: PAIP1
  hgvsc: ENST00000511321.1:c.286-13T>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000422084
  ensembl transcript: ENST00000504639
  gene symbol: PAIP1
  hgvsc: ENST00000504639.1:c.622-13T>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425084
  ensembl transcript: ENST00000514514
  gene symbol: PAIP1
  hgvsc: ENST00000514514.1:c.385-13T>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425736
  ensembl transcript: ENST00000508537
  gene symbol: PAIP1
  hgvsc: ENST00000508537.1:c.286-13T>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000427410
  ensembl transcript: ENST00000504075
  gene symbol: PAIP1
  hgvsc: ENST00000504075.1:c.-27-13T>G
  variant of: http://identifiers.org/hgnc/16945
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24174
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2472
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6979
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19129
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41746
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1488
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2572
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

5-43543239-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43543239
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43543239
    reference: chr 5
allele count: 2
allele frequency: 1.687279599102367e-5
allele num: 118534
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425736
  ensembl transcript: ENST00000508537
  gene symbol: PAIP1
  hgvsc: ENST00000508537.1:c.286-21C>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000339622
  ensembl transcript: ENST00000338972
  gene symbol: PAIP1
  hgvsc: ENST00000338972.4:c.286-21C>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000387729
  ensembl transcript: ENST00000436644
  gene symbol: PAIP1
  hgvsc: ENST00000436644.2:c.385-21C>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000427410
  ensembl transcript: ENST00000504075
  gene symbol: PAIP1
  hgvsc: ENST00000504075.1:c.-27-21C>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000302768
  ensembl transcript: ENST00000306846
  gene symbol: PAIP1
  hgvsc: ENST00000306846.3:c.622-21C>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425084
  ensembl transcript: ENST00000514514
  gene symbol: PAIP1
  hgvsc: ENST00000514514.1:c.385-21C>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000422084
  ensembl transcript: ENST00000504639
  gene symbol: PAIP1
  hgvsc: ENST00000504639.1:c.622-21C>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425675
  ensembl transcript: ENST00000511321
  gene symbol: PAIP1
  hgvsc: ENST00000511321.1:c.286-21C>G
  variant of: http://identifiers.org/hgnc/16945
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2032
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20957
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4341
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6855
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18353
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1144
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5027
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1067
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5920
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

5-43543241-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43543241
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43543241
    reference: chr 5
allele count: 1
allele frequency: 8.46123906384851e-6
allele num: 118186
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000302768
  ensembl transcript: ENST00000306846
  gene symbol: PAIP1
  hgvsc: ENST00000306846.3:c.622-23A>T
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000427410
  ensembl transcript: ENST00000504075
  gene symbol: PAIP1
  hgvsc: ENST00000504075.1:c.-27-23A>T
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425675
  ensembl transcript: ENST00000511321
  gene symbol: PAIP1
  hgvsc: ENST00000511321.1:c.286-23A>T
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425736
  ensembl transcript: ENST00000508537
  gene symbol: PAIP1
  hgvsc: ENST00000508537.1:c.286-23A>T
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000422084
  ensembl transcript: ENST00000504639
  gene symbol: PAIP1
  hgvsc: ENST00000504639.1:c.622-23A>T
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000387729
  ensembl transcript: ENST00000436644
  gene symbol: PAIP1
  hgvsc: ENST00000436644.2:c.385-23A>T
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000339622
  ensembl transcript: ENST00000338972
  gene symbol: PAIP1
  hgvsc: ENST00000338972.4:c.286-23A>T
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425084
  ensembl transcript: ENST00000514514
  gene symbol: PAIP1
  hgvsc: ENST00000514514.1:c.385-23A>T
  variant of: http://identifiers.org/hgnc/16945
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17940
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5421
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2797
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19441
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6795
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2478
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34570
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 938
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1140
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1791
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP

5-43543242-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43543242
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43543242
    reference: chr 5
allele count: 1
allele frequency: 8.460380040271409e-6
allele num: 118198
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425675
  ensembl transcript: ENST00000511321
  gene symbol: PAIP1
  hgvsc: ENST00000511321.1:c.286-24T>C
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000422084
  ensembl transcript: ENST00000504639
  gene symbol: PAIP1
  hgvsc: ENST00000504639.1:c.622-24T>C
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000387729
  ensembl transcript: ENST00000436644
  gene symbol: PAIP1
  hgvsc: ENST00000436644.2:c.385-24T>C
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000302768
  ensembl transcript: ENST00000306846
  gene symbol: PAIP1
  hgvsc: ENST00000306846.3:c.622-24T>C
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000339622
  ensembl transcript: ENST00000338972
  gene symbol: PAIP1
  hgvsc: ENST00000338972.4:c.286-24T>C
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425084
  ensembl transcript: ENST00000514514
  gene symbol: PAIP1
  hgvsc: ENST00000514514.1:c.385-24T>C
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000427410
  ensembl transcript: ENST00000504075
  gene symbol: PAIP1
  hgvsc: ENST00000504075.1:c.-27-24T>C
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425736
  ensembl transcript: ENST00000508537
  gene symbol: PAIP1
  hgvsc: ENST00000508537.1:c.286-24T>C
  variant of: http://identifiers.org/hgnc/16945
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19413
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17980
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5428
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6763
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2804
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1441
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1447
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5773
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1697
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 934
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34809
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

5-43543243-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43543243
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43543243
    reference: chr 5
allele count: 2
allele frequency: 1.695001440751225e-5
allele num: 117994
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425736
  ensembl transcript: ENST00000508537
  gene symbol: PAIP1
  hgvsc: ENST00000508537.1:c.286-25A>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425675
  ensembl transcript: ENST00000511321
  gene symbol: PAIP1
  hgvsc: ENST00000511321.1:c.286-25A>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000427410
  ensembl transcript: ENST00000504075
  gene symbol: PAIP1
  hgvsc: ENST00000504075.1:c.-27-25A>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000302768
  ensembl transcript: ENST00000306846
  gene symbol: PAIP1
  hgvsc: ENST00000306846.3:c.622-25A>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000422084
  ensembl transcript: ENST00000504639
  gene symbol: PAIP1
  hgvsc: ENST00000504639.1:c.622-25A>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425084
  ensembl transcript: ENST00000514514
  gene symbol: PAIP1
  hgvsc: ENST00000514514.1:c.385-25A>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000387729
  ensembl transcript: ENST00000436644
  gene symbol: PAIP1
  hgvsc: ENST00000436644.2:c.385-25A>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000339622
  ensembl transcript: ENST00000338972
  gene symbol: PAIP1
  hgvsc: ENST00000338972.4:c.286-25A>G
  variant of: http://identifiers.org/hgnc/16945
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2457
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18897
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5837
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6695
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17807
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33723
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1677
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/5-43543257-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43543257
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43543257
    reference: chr 5
allele count: 1
allele frequency: 8.813368116759501e-6
allele num: 113464
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000387729
  ensembl transcript: ENST00000436644
  gene symbol: PAIP1
  hgvsc: ENST00000436644.2:c.385-39T>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000427410
  ensembl transcript: ENST00000504075
  gene symbol: PAIP1
  hgvsc: ENST00000504075.1:c.-27-39T>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000302768
  ensembl transcript: ENST00000306846
  gene symbol: PAIP1
  hgvsc: ENST00000306846.3:c.622-39T>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000422084
  ensembl transcript: ENST00000504639
  gene symbol: PAIP1
  hgvsc: ENST00000504639.1:c.622-39T>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425736
  ensembl transcript: ENST00000508537
  gene symbol: PAIP1
  hgvsc: ENST00000508537.1:c.286-39T>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425084
  ensembl transcript: ENST00000514514
  gene symbol: PAIP1
  hgvsc: ENST00000514514.1:c.385-39T>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425675
  ensembl transcript: ENST00000511321
  gene symbol: PAIP1
  hgvsc: ENST00000511321.1:c.286-39T>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000339622
  ensembl transcript: ENST00000338972
  gene symbol: PAIP1
  hgvsc: ENST00000338972.4:c.286-39T>G
  variant of: http://identifiers.org/hgnc/16945
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5358
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12164
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13981
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8973
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10885
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2370
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1031
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3924
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1544
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3300
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

5-43543257-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43543257
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43543257
    reference: chr 5
allele count: 2
allele frequency: 1.7626736233519e-5
allele num: 113464
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000339622
  ensembl transcript: ENST00000338972
  gene symbol: PAIP1
  hgvsc: ENST00000338972.4:c.286-39T>A
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000427410
  ensembl transcript: ENST00000504075
  gene symbol: PAIP1
  hgvsc: ENST00000504075.1:c.-27-39T>A
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000422084
  ensembl transcript: ENST00000504639
  gene symbol: PAIP1
  hgvsc: ENST00000504639.1:c.622-39T>A
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000387729
  ensembl transcript: ENST00000436644
  gene symbol: PAIP1
  hgvsc: ENST00000436644.2:c.385-39T>A
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000302768
  ensembl transcript: ENST00000306846
  gene symbol: PAIP1
  hgvsc: ENST00000306846.3:c.622-39T>A
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425736
  ensembl transcript: ENST00000508537
  gene symbol: PAIP1
  hgvsc: ENST00000508537.1:c.286-39T>A
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425084
  ensembl transcript: ENST00000514514
  gene symbol: PAIP1
  hgvsc: ENST00000514514.1:c.385-39T>A
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425675
  ensembl transcript: ENST00000511321
  gene symbol: PAIP1
  hgvsc: ENST00000511321.1:c.286-39T>A
  variant of: http://identifiers.org/hgnc/16945
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10885
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8973
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5358
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12164
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13981
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1108
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 821
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16283
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6525
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6836
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1031
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

5-43543259-CATT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43543259
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43543256
    reference: chr 5
allele count: 5702
allele frequency: 4.946046285694459e-2
allele num: 115284
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000302768
  ensembl transcript: ENST00000306846
  gene symbol: PAIP1
  hgvsc: ENST00000306846.3:c.622-44_622-42delAAT
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000422084
  ensembl transcript: ENST00000504639
  gene symbol: PAIP1
  hgvsc: ENST00000504639.1:c.622-44_622-42delAAT
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425736
  ensembl transcript: ENST00000508537
  gene symbol: PAIP1
  hgvsc: ENST00000508537.1:c.286-44_286-42delAAT
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425675
  ensembl transcript: ENST00000511321
  gene symbol: PAIP1
  hgvsc: ENST00000511321.1:c.286-44_286-42delAAT
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000387729
  ensembl transcript: ENST00000436644
  gene symbol: PAIP1
  hgvsc: ENST00000436644.2:c.385-44_385-42delAAT
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000427410
  ensembl transcript: ENST00000504075
  gene symbol: PAIP1
  hgvsc: ENST00000504075.1:c.-27-44_-27-42delAAT
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000339622
  ensembl transcript: ENST00000338972
  gene symbol: PAIP1
  hgvsc: ENST00000338972.4:c.286-44_286-42delAAT
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425084
  ensembl transcript: ENST00000514514
  gene symbol: PAIP1
  hgvsc: ENST00000514514.1:c.385-44_385-42delAAT
  variant of: http://identifiers.org/hgnc/16945
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9382
  bin: 1.25e1
  variant carriers: 835
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 4.75e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 5.25e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.75e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 7.5e0
  variant carriers: 171
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 5133
  bin: 3.25e1
  variant carriers: 474
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 2.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 11983
  bin: 2.75e1
  variant carriers: 806
genotype depth: GenotypeDepth
  all individuals: 14343
  bin: 1.75e1
  variant carriers: 1350
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 4.25e1
  variant carriers: 153
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 3.75e1
  variant carriers: 232
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 10944
  bin: 2.25e1
  variant carriers: 1285
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 34
genotype quality: GenotypeQuality
  all individuals: 1078
  bin: 8.25e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2787
  bin: 2.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 7.5e0
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 2.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2192
  bin: 4.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 5871
  bin: 2.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 1.75e1
  variant carriers: 8
num of homozygotes: 206
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: CATT
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

5-43547786-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43547786
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43547786
    reference: chr 5
allele count: 2
allele frequency: 1.766815668121345e-5
allele num: 113198
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000422084
  ensembl transcript: ENST00000504639
  gene symbol: PAIP1
  hgvsc: ENST00000504639.1:c.621+44T>C
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425084
  ensembl transcript: ENST00000514514
  gene symbol: PAIP1
  hgvsc: ENST00000514514.1:c.384+44T>C
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425675
  ensembl transcript: ENST00000511321
  gene symbol: PAIP1
  hgvsc: ENST00000511321.1:c.285+44T>C
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000302768
  ensembl transcript: ENST00000306846
  gene symbol: PAIP1
  hgvsc: ENST00000306846.3:c.621+44T>C
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000339622
  ensembl transcript: ENST00000338972
  gene symbol: PAIP1
  hgvsc: ENST00000338972.4:c.285+44T>C
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000387729
  ensembl transcript: ENST00000436644
  gene symbol: PAIP1
  hgvsc: ENST00000436644.2:c.384+44T>C
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425736
  ensembl transcript: ENST00000508537
  gene symbol: PAIP1
  hgvsc: ENST00000508537.1:c.285+44T>C
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000427410
  ensembl transcript: ENST00000504075
  gene symbol: PAIP1
  hgvsc: ENST00000504075.1:c.-28+44T>C
  variant of: http://identifiers.org/hgnc/16945
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12937
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2221
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27710
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9356
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3036
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1792
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2380
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

5-43547787-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43547787
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43547787
    reference: chr 5
allele count: 1
allele frequency: 8.833298000141333e-6
allele num: 113208
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425736
  ensembl transcript: ENST00000508537
  gene symbol: PAIP1
  hgvsc: ENST00000508537.1:c.285+43T>C
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000302768
  ensembl transcript: ENST00000306846
  gene symbol: PAIP1
  hgvsc: ENST00000306846.3:c.621+43T>C
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000339622
  ensembl transcript: ENST00000338972
  gene symbol: PAIP1
  hgvsc: ENST00000338972.4:c.285+43T>C
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000422084
  ensembl transcript: ENST00000504639
  gene symbol: PAIP1
  hgvsc: ENST00000504639.1:c.621+43T>C
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000427410
  ensembl transcript: ENST00000504075
  gene symbol: PAIP1
  hgvsc: ENST00000504075.1:c.-28+43T>C
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425084
  ensembl transcript: ENST00000514514
  gene symbol: PAIP1
  hgvsc: ENST00000514514.1:c.384+43T>C
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000387729
  ensembl transcript: ENST00000436644
  gene symbol: PAIP1
  hgvsc: ENST00000436644.2:c.384+43T>C
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425675
  ensembl transcript: ENST00000511321
  gene symbol: PAIP1
  hgvsc: ENST00000511321.1:c.285+43T>C
  variant of: http://identifiers.org/hgnc/16945
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9385
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27727
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3056
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12950
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2220
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP

5-43547792-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43547792
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43547792
    reference: chr 5
allele count: 2
allele frequency: 1.763948422148136e-5
allele num: 113382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425736
  ensembl transcript: ENST00000508537
  gene symbol: PAIP1
  hgvsc: ENST00000508537.1:c.285+38C>T
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000387729
  ensembl transcript: ENST00000436644
  gene symbol: PAIP1
  hgvsc: ENST00000436644.2:c.384+38C>T
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425675
  ensembl transcript: ENST00000511321
  gene symbol: PAIP1
  hgvsc: ENST00000511321.1:c.285+38C>T
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000339622
  ensembl transcript: ENST00000338972
  gene symbol: PAIP1
  hgvsc: ENST00000338972.4:c.285+38C>T
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000302768
  ensembl transcript: ENST00000306846
  gene symbol: PAIP1
  hgvsc: ENST00000306846.3:c.621+38C>T
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000427410
  ensembl transcript: ENST00000504075
  gene symbol: PAIP1
  hgvsc: ENST00000504075.1:c.-28+38C>T
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000422084
  ensembl transcript: ENST00000504639
  gene symbol: PAIP1
  hgvsc: ENST00000504639.1:c.621+38C>T
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425084
  ensembl transcript: ENST00000514514
  gene symbol: PAIP1
  hgvsc: ENST00000514514.1:c.384+38C>T
  variant of: http://identifiers.org/hgnc/16945
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2224
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27844
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12951
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9505
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2662
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1591
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2377
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38951
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

5-43547803-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43547803
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43547803
    reference: chr 5
allele count: 1
allele frequency: 8.787191789247992e-6
allele num: 113802
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000387729
  ensembl transcript: ENST00000436644
  gene symbol: PAIP1
  hgvsc: ENST00000436644.2:c.384+27C>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000339622
  ensembl transcript: ENST00000338972
  gene symbol: PAIP1
  hgvsc: ENST00000338972.4:c.285+27C>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425084
  ensembl transcript: ENST00000514514
  gene symbol: PAIP1
  hgvsc: ENST00000514514.1:c.384+27C>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425675
  ensembl transcript: ENST00000511321
  gene symbol: PAIP1
  hgvsc: ENST00000511321.1:c.285+27C>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000425736
  ensembl transcript: ENST00000508537
  gene symbol: PAIP1
  hgvsc: ENST00000508537.1:c.285+27C>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000302768
  ensembl transcript: ENST00000306846
  gene symbol: PAIP1
  hgvsc: ENST00000306846.3:c.621+27C>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000422084
  ensembl transcript: ENST00000504639
  gene symbol: PAIP1
  hgvsc: ENST00000504639.1:c.621+27C>G
  variant of: http://identifiers.org/hgnc/16945
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172239
  ensembl protein: ENSP00000427410
  ensembl transcript: ENST00000504075
  gene symbol: PAIP1
  hgvsc: ENST00000504075.1:c.-28+27C>G
  variant of: http://identifiers.org/hgnc/16945
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3314
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27968
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12965
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9787
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1779
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2375
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3156
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8960
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

5-43547804-TCA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43547804
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43547802
allele count: 2
allele frequency: 1.75641971405487e-5
allele num: 113868
alternate allele: T
canonical: true
consequence: intron
filter: PASS
num of homozygotes: 0
reference allele: TCA

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

GenotypeQuality
all individuals: 3596
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5470
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4116
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3876
bin: 8.25e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16220
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502178158329578e-5
allele num: 66570
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.07e-1

FS
type: SiteQuality
SIO_000300: 1.8e0

DP
type: SiteQuality
SIO_000300: 2.363996e6

MQRankSum
type: SiteQuality
SIO_000300: 3.94e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.221e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.14e0

MQ
type: SiteQuality
SIO_000300: 5.858e1

QD
type: SiteQuality
SIO_000300: 1.554e1

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

GenotypeQuality
all individuals: 21779
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3599
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4119
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17173
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499295331194339e-5
allele num: 66698
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
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: 5.848e1

QD
type: SiteQuality
SIO_000300: 1.243e1

DP
type: SiteQuality
SIO_000300: 2.372268e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.55e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.27e-1

FS
type: SiteQuality
SIO_000300: 1.539e1

VQSLOD
type: SiteQuality
SIO_000300: -2.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

GenotypeQuality
all individuals: 3600
bin: 9.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 17183
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 18
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21781
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2444
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5530
bin: 6.75e1
variant carriers: 0

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

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

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: 16498
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 5
allele frequency: 5.784359093012494e-4
allele num: 8644
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.916e0

MQ
type: SiteQuality
SIO_000300: 5.437e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.828e0

VQSLOD
type: SiteQuality
SIO_000300: -5.636e0

DP
type: SiteQuality
SIO_000300: 2.375401e6

MQRankSum
type: SiteQuality
SIO_000300: -4.647e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.868e0

QD
type: SiteQuality
SIO_000300: 5.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.91e0

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

GenotypeQuality
all individuals: 5538
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21778
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3876
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4116
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2445
bin: 7.25e1
variant carriers: 0

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

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

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

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

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.275e1

VQSLOD
type: SiteQuality
SIO_000300: -2.078e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.39e-1

DP
type: SiteQuality
SIO_000300: 2.372918e6

MQRankSum
type: SiteQuality
SIO_000300: 1.9e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

FS
type: SiteQuality
SIO_000300: 1.482e0

MQ
type: SiteQuality
SIO_000300: 5.82e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.886e0

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

GenotypeQuality
all individuals: 4114
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 5539
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3877
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2113
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3599
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

African
type: Population
allele count: 14
allele frequency: 1.34563629373318e-3
allele num: 10404
num of homozygotes: 0

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -7.62e-1

FS
type: SiteQuality
SIO_000300: 5.45e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.409999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.42e-1

MQ
type: SiteQuality
SIO_000300: 5.75e1

DP
type: SiteQuality
SIO_000300: 2.374249e6

VQSLOD
type: SiteQuality
SIO_000300: -4.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.33e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

QD
type: SiteQuality
SIO_000300: 1.38e1

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2445
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17205
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3877
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2113
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21776
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

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

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

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

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.757e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.09e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.45e0

DP
type: SiteQuality
SIO_000300: 2.372937e6

FS
type: SiteQuality
SIO_000300: 1.568e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.56e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.764e0

QD
type: SiteQuality
SIO_000300: 1.172e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.307e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
all individuals: 5541
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17212
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2113
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.74e-1

MQ
type: SiteQuality
SIO_000300: 5.904e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.16e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.37e-1

FS
type: SiteQuality
SIO_000300: 3.433e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.86e-1

DP
type: SiteQuality
SIO_000300: 2.373037e6

QD
type: SiteQuality
SIO_000300: 1.147e1

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2112
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.493106342165208e-5
allele num: 66728
num of homozygotes: 1

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

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -4.652e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.03e0

MQ
type: SiteQuality
SIO_000300: 5.721e1

FS
type: SiteQuality
SIO_000300: 5.23e-1

DP
type: SiteQuality
SIO_000300: 2.373656e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.435e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.459999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.88e-1

QD
type: SiteQuality
SIO_000300: 2.05e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

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

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.91e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.373055e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.055e0

VQSLOD
type: SiteQuality
SIO_000300: -6.087e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.496e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.63e0

GenotypeQuality
all individuals: 3601
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 21774
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variant carriers: 2

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

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

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

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

African
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allele frequency: 1.922337562475971e-4
allele num: 10404
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Other
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allele num: 908
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

FS
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DP
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QD
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
type: SiteQuality
SIO_000300: 9.85e-1

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

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

East Asian
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allele frequency: 0.0e0
allele num: 8654
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
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ClippingRankSum
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DP
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VQSLOD
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ReadPosRankSum
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FS
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BaseQRankSum
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MQRankSum
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QD
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Finnish)
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allele frequency: 3.023888720895071e-4
allele num: 6614
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
allele num: 10384
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66668
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Other
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allele frequency: 0.0e0
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South Asian
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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QD
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MQRankSum
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FS
type: SiteQuality
SIO_000300: 9.475e0

DP
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ReadPosRankSum
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MQ
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SIO_000300: 5.575e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele frequency: 1.92975685063682e-4
allele num: 10364
num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.001560811622043e-5
allele num: 66632
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.35e-1

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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MQRankSum
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DP
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SIO_000300: 2.369484e6

MQ
type: SiteQuality
SIO_000300: 5.708e1

FS
type: SiteQuality
SIO_000300: 3.521e0

QD
type: SiteQuality
SIO_000300: 1.202e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501140867058965e-5
allele num: 66616
num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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Other
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 8.98e-1

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.25e0

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 4.922e0

QD
type: SiteQuality
SIO_000300: 9.720000000000001e0

MQ
type: SiteQuality
SIO_000300: 5.526e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11572
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East Asian
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allele frequency: 1.156336725254394e-4
allele num: 8648
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African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
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ReadPosRankSum
type: SiteQuality
SIO_000300: -3.95e-1

ClippingRankSum
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VQSLOD
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QD
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MQ
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BaseQRankSum
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DP
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MQRankSum
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InbreedingCoeff
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 904
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South Asian
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African
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East Asian
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66460
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Latino
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allele frequency: 1.728309713100588e-4
allele num: 11572
num of homozygotes: 0

DP
type: SiteQuality
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QD
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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FS
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VQSLOD
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InbreedingCoeff
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MQ
type: SiteQuality
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 6

European (Non-Finnish)
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allele count: 5
allele frequency: 7.523322299127295e-5
allele num: 66460
num of homozygotes: 0

East Asian
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European (Finnish)
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allele num: 6608
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.504981488727689e-5
allele num: 66446
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East Asian
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South Asian
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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Latino
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FS
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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QD
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InbreedingCoeff
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DP
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BaseQRankSum
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MQ
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 6
allele frequency: 5.8331713007972e-4
allele num: 10286
num of homozygotes: 0

Other
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allele num: 904
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East Asian
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European (Finnish)
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allele count: 2
allele frequency: 3.027550711474417e-4
allele num: 6606
num of homozygotes: 0

Latino
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allele count: 12
allele frequency: 1.037165082108902e-3
allele num: 11570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 151
allele frequency: 2.273206274651492e-3
allele num: 66426
num of homozygotes: 0

South Asian
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allele count: 175
allele frequency: 1.066552901023891e-2
allele num: 16408
num of homozygotes: 0

BaseQRankSum
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QD
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MQ
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DP
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InbreedingCoeff
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FS
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 5.75e1
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GenotypeQuality
all individuals: 21714
bin: 9.75e1
variant carriers: 1

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505570611261668e-5
allele num: 66420
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: 6606
num of homozygotes: 0

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

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

VQSLOD
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SIO_000300: -1.643e0

MQRankSum
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SIO_000300: 3.06e-1

FS
type: SiteQuality
SIO_000300: 2.022e0

InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.429e1

MQ
type: SiteQuality
SIO_000300: 5.848e1

DP
type: SiteQuality
SIO_000300: 2.354466e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.28e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.32e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 18

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

Latino
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allele count: 2
allele frequency: 1.728907330567082e-4
allele num: 11568
num of homozygotes: 0

African
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allele count: 16
allele frequency: 1.555814858031894e-3
allele num: 10284
num of homozygotes: 0

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

South Asian
type: Population
allele count: 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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66408
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

FS
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SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.355398e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.29e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.649999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.349e1

MQ
type: SiteQuality
SIO_000300: 5.913e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10270
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16388
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506977304921788e-5
allele num: 66358
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.472e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.09e-1

DP
type: SiteQuality
SIO_000300: 2.344121e6

VQSLOD
type: SiteQuality
SIO_000300: -1.449e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.51e-1

MQ
type: SiteQuality
SIO_000300: 5.635e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.7e0

QD
type: SiteQuality
SIO_000300: 9.15e0

MQRankSum
type: SiteQuality
SIO_000300: 2.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-3

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.856100926473487e-5
allele num: 10146
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66142
num of homozygotes: 0

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

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

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16348
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.24e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.33e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.009e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 6.14e-1

DP
type: SiteQuality
SIO_000300: 2.312707e6

MQ
type: SiteQuality
SIO_000300: 5.919e1

QD
type: SiteQuality
SIO_000300: 1.342e1

VQSLOD
type: SiteQuality
SIO_000300: -9.63e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16240
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.667013347200555e-5
allele num: 11538
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65910
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10084
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.42e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.532e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.4e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.869e0

MQ
type: SiteQuality
SIO_000300: 4.036e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.5e0

MQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

DP
type: SiteQuality
SIO_000300: 2.294615e6

GenotypeQuality
all individuals: 77
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 615
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GenotypeQuality
all individuals: 2531
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9920
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11406
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8212
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523229246001523e-5
allele num: 65650
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16120
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.05e1

DP
type: SiteQuality
SIO_000300: 1.589739e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.06e0

MQRankSum
type: SiteQuality
SIO_000300: -7.91e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.727e0

QD
type: SiteQuality
SIO_000300: 4.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.64e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.3e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9902
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11396
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65616
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8212
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 6.210408644888833e-5
allele num: 16102
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.91e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.850000000000001e-1

VQSLOD
type: SiteQuality
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DP
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.303e1

QD
type: SiteQuality
SIO_000300: 4.68e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.11e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16150
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11442
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8292
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9970
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.035546246547066e-5
allele num: 65886
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.214e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.486e0

VQSLOD
type: SiteQuality
SIO_000300: -1.083e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e0

DP
type: SiteQuality
SIO_000300: 1.640388e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10048
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509889778046203e-5
allele num: 66230
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: 8436
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.025e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -6.01e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.93e-1

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.253e1

DP
type: SiteQuality
SIO_000300: 1.662529e6

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

South Asian
type: Population
allele count: 2
allele frequency: 1.224739742804654e-4
allele num: 16330
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10128
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66450
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

QD
type: SiteQuality
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FS
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MQRankSum
type: SiteQuality
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DP
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SIO_000300: 1.678054e6

VQSLOD
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ReadPosRankSum
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SIO_000300: 1.51e0

MQ
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SIO_000300: 5.47e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.9e-1

BaseQRankSum
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GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
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allele frequency: 6.090875867949811e-5
allele num: 16418
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11546
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66566
num of homozygotes: 0

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

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

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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allele frequency: 9.784735812133073e-5
allele num: 10220
num of homozygotes: 0

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

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

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

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

VQSLOD
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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FS
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QD
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MQ
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DP
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499925003749813e-5
allele num: 66670
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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FS
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QD
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BaseQRankSum
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SIO_000300: -5.932e0

InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.32e-1

DP
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VQSLOD
type: SiteQuality
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MQRankSum
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SIO_000300: -1.69e-1

MQ
type: SiteQuality
SIO_000300: 5.185e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

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

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

East Asian
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allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.353e1

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.149e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.0e-3

DP
type: SiteQuality
SIO_000300: 1.690569e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.27e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999670036296008e-5
allele num: 66674
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.83e0

MQRankSum
type: SiteQuality
SIO_000300: 6.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.97e-1

FS
type: SiteQuality
SIO_000300: 6.012e0

InbreedingCoeff
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MQ
type: SiteQuality
SIO_000300: 5.066e1

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66678
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.88e-1

VQSLOD
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ClippingRankSum
type: SiteQuality
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MQ
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 4.03e-1

InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.690797e6

ReadPosRankSum
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele num: 16510
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Latino
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.499565126113427e-5
allele num: 66686
num of homozygotes: 0

East Asian
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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FS
type: SiteQuality
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MQ
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.49947518368571e-5
allele num: 66690
num of homozygotes: 0

East Asian
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African
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South Asian
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Latino
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European (Finnish)
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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DP
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FS
type: SiteQuality
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MQRankSum
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QD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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European (Non-Finnish)
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allele frequency: 1.49947518368571e-5
allele num: 66690
num of homozygotes: 0

Other
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Latino
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allele num: 11576
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East Asian
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European (Finnish)
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ClippingRankSum
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MQ
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InbreedingCoeff
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ReadPosRankSum
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FS
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QD
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VQSLOD
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MQRankSum
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DP
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49947518368571e-5
allele num: 66690
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 5.72e-1

MQ
type: SiteQuality
SIO_000300: 4.959e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.89e0

MQRankSum
type: SiteQuality
SIO_000300: 5.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.33e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.317e0

DP
type: SiteQuality
SIO_000300: 1.691209e6

QD
type: SiteQuality
SIO_000300: 1.101e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998590662388677e-5
allele num: 66698
num of homozygotes: 0

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

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.691405e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.322e0

VQSLOD
type: SiteQuality
SIO_000300: -9.375e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.24e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.31e-1

MQ
type: SiteQuality
SIO_000300: 5.086e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.88e-1

QD
type: SiteQuality
SIO_000300: 1.121e1

GenotypeQuality
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variant carriers: 6

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66704
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 3.633720930232558e-4
allele num: 16512
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.36e-1

QD
type: SiteQuality
SIO_000300: 9.050000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.4e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.429e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 4.748e1

MQRankSum
type: SiteQuality
SIO_000300: -6.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.847e0

DP
type: SiteQuality
SIO_000300: 1.691767e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3
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African
type: Population
allele count: 30
allele frequency: 2.891844997108155e-3
allele num: 10374
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.693764e6

FS
type: SiteQuality
SIO_000300: 5.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.94e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.61e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.078e-1

QD
type: SiteQuality
SIO_000300: 1.248e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.98e-1

MQ
type: SiteQuality
SIO_000300: 4.849e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.09e0

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.9e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.691784e6

MQRankSum
type: SiteQuality
SIO_000300: 3.94e-1

QD
type: SiteQuality
SIO_000300: 1.18e1

MQ
type: SiteQuality
SIO_000300: 4.831e1

VQSLOD
type: SiteQuality
SIO_000300: -1.225e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.62e0

GenotypeQuality
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variant carriers: 24

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 11
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GenotypeQuality
all individuals: 442
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variant carriers: 0

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

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

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

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

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.023888720895071e-4
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 21
allele frequency: 3.147953830010493e-4
allele num: 66710
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.693151e6

MQRankSum
type: SiteQuality
SIO_000300: 2.17e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.0e-3

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.63e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 4.811e1

GenotypeQuality
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variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

European (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: 1.499205421126803e-5
allele num: 66702
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.882e1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 7.96e0

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -9.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.31e0

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.691544e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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: 1.499520153550864e-5
allele num: 66688
num of homozygotes: 0

South Asian
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num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -3.18e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
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allele num: 16508
num of homozygotes: 0

African
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East Asian
type: Population
allele count: 15
allele frequency: 1.734104046242775e-3
allele num: 8650
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66656
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.339e0

QD
type: SiteQuality
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BaseQRankSum
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
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ClippingRankSum
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VQSLOD
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SIO_000300: -6.913e-1

ReadPosRankSum
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

East Asian
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allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

BaseQRankSum
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ReadPosRankSum
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MQ
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QD
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DP
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ClippingRankSum
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VQSLOD
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FS
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InbreedingCoeff
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.5008254539997e-5
allele num: 66630
num of homozygotes: 0

ClippingRankSum
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FS
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VQSLOD
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BaseQRankSum
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DP
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MQ
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66614
num of homozygotes: 0

African
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allele frequency: 9.708737864077671e-5
allele num: 10300
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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ReadPosRankSum
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FS
type: SiteQuality
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ClippingRankSum
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BaseQRankSum
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QD
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InbreedingCoeff
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MQRankSum
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VQSLOD
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DP
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.504098729844158e-5
allele num: 66606
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

East Asian
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allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.688392e6

InbreedingCoeff
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VQSLOD
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
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QD
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FS
type: SiteQuality
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ClippingRankSum
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MQ
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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allele count: 1
allele frequency: 9.714396735962697e-5
allele num: 10294
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
SIO_000300: 8.67e-1

VQSLOD
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MQ
type: SiteQuality
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MQRankSum
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DP
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InbreedingCoeff
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ClippingRankSum
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FS
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QD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele num: 16494
num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
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African
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Other
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East Asian
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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InbreedingCoeff
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ClippingRankSum
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FS
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BaseQRankSum
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QD
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DP
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MQRankSum
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MQ
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VQSLOD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Finnish)
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African
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South Asian
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East Asian
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European (Non-Finnish)
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Latino
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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FS
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InbreedingCoeff
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MQRankSum
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QD
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DP
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ReadPosRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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European (Non-Finnish)
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South Asian
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European (Finnish)
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.5e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 5.2e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.125e0

MQ
type: SiteQuality
SIO_000300: 5.519e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.47e-1

FS
type: SiteQuality
SIO_000300: 1.325e0

QD
type: SiteQuality
SIO_000300: 1.255e1

DP
type: SiteQuality
SIO_000300: 1.679497e6

GenotypeQuality
all individuals: 63
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 43605
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10170
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16374
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66212
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.177578897786152e-4
allele num: 8492
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.347e0

MQRankSum
type: SiteQuality
SIO_000300: 2.05e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.52e0

QD
type: SiteQuality
SIO_000300: 1.434e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.489e1

DP
type: SiteQuality
SIO_000300: 1.672571e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.382e0

GenotypeQuality
all individuals: 285
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1156
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8434
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66020
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.871668311944718e-5
allele num: 10130
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16304
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.64e0

MQRankSum
type: SiteQuality
SIO_000300: -2.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.66e-1

QD
type: SiteQuality
SIO_000300: 1.401e1

VQSLOD
type: SiteQuality
SIO_000300: -1.2e0

FS
type: SiteQuality
SIO_000300: 1.71e0

DP
type: SiteQuality
SIO_000300: 1.663365e6

MQ
type: SiteQuality
SIO_000300: 5.148e1

GenotypeQuality
all individuals: 6135
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3311
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 441
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517727051966974e-5
allele num: 65888
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10120
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16272
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.378686964795433e-4
allele num: 8408
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

DP
type: SiteQuality
SIO_000300: 1.657371e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.84e-1

FS
type: SiteQuality
SIO_000300: 2.776e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.25e-1

MQ
type: SiteQuality
SIO_000300: 5.489e1

VQSLOD
type: SiteQuality
SIO_000300: 2.74e0

MQRankSum
type: SiteQuality
SIO_000300: -2.41e-1

QD
type: SiteQuality
SIO_000300: 1.23e1

GenotypeQuality
all individuals: 1153
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6125
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3313
bin: 9.75e1
variant carriers: 6

GenotypeQuality
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GenotypeQuality
all individuals: 390
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variant carriers: 0

GenotypeQuality
all individuals: 442
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variant carriers: 0

GenotypeQuality
all individuals: 70
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variant carriers: 0

GenotypeQuality
all individuals: 1721
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10108
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11478
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16264
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.115770282588879e-5
allele num: 65820
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8398
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.759e0

DP
type: SiteQuality
SIO_000300: 1.653686e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

FS
type: SiteQuality
SIO_000300: 1.195e0

MQ
type: SiteQuality
SIO_000300: 5.42e1

MQRankSum
type: SiteQuality
SIO_000300: 7.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.788e-1

QD
type: SiteQuality
SIO_000300: 1.434e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.04e-1

GenotypeQuality
all individuals: 604
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 683
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variant carriers: 0

GenotypeQuality
all individuals: 37170
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 179
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variant carriers: 0

GenotypeQuality
all individuals: 3307
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 163
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1693
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variant carriers: 0

GenotypeQuality
all individuals: 1228
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.204529029149603e-4
allele num: 8302
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10000
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11386
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16142
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.518e1

VQSLOD
type: SiteQuality
SIO_000300: -1.218e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.78e-1

MQ
type: SiteQuality
SIO_000300: 5.433e1

FS
type: SiteQuality
SIO_000300: 4.367e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.26e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.612831e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.13e0

GenotypeQuality
all individuals: 5973
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1428
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1445
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16088
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.53666482266888e-5
allele num: 65076
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11356
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8258
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9960
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.058e0

MQRankSum
type: SiteQuality
SIO_000300: 1.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.23e0

MQ
type: SiteQuality
SIO_000300: 5.662e1

QD
type: SiteQuality
SIO_000300: 1.749e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.110000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.593447e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 682
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.536287101333497e-5
allele num: 65092
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11354
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9950
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16096
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VQSLOD
type: SiteQuality
SIO_000300: -8.280999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.531e1

QD
type: SiteQuality
SIO_000300: 1.593e1

DP
type: SiteQuality
SIO_000300: 1.592895e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.075e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.04e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.85e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 233
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variant carriers: 0

GenotypeQuality
all individuals: 1436
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.077491229149997e-5
allele num: 64988
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11326
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8244
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9930
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 2.314e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.39e0

MQ
type: SiteQuality
SIO_000300: 5.443e1

DP
type: SiteQuality
SIO_000300: 1.584892e6

VQSLOD
type: SiteQuality
SIO_000300: -1.006e0

QD
type: SiteQuality
SIO_000300: 2.225e1

MQRankSum
type: SiteQuality
SIO_000300: 9.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.34e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1108
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GenotypeQuality
all individuals: 675
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15308
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7996
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11008
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.592813226721035e-5
allele num: 62782
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6498
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9016
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.41e0

QD
type: SiteQuality
SIO_000300: 1.344e1

VQSLOD
type: SiteQuality
SIO_000300: -1.392e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

MQ
type: SiteQuality
SIO_000300: 5.281e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.61e0

DP
type: SiteQuality
SIO_000300: 1.445065e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.031e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

GenotypeQuality
all individuals: 2370
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1198
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 516
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2568
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3300
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1544
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6007
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3924
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 675
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3250
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7996
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11008
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.109139307897072e-4
allele num: 9016
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15308
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.592813226721035e-5
allele num: 62782
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6498
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.392e0

MQ
type: SiteQuality
SIO_000300: 5.281e1

QD
type: SiteQuality
SIO_000300: 1.344e1

MQRankSum
type: SiteQuality
SIO_000300: 1.61e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.031e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

DP
type: SiteQuality
SIO_000300: 1.445065e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.41e0

GenotypeQuality
all individuals: 5401
bin: 3.75e1
variant carriers: 22

GenotypeQuality
all individuals: 8551
bin: 9.75e1
variant carriers: 5399

GenotypeQuality
all individuals: 432
bin: 8.75e1
variant carriers: 22

GenotypeQuality
all individuals: 16700
bin: 6.25e1
variant carriers: 23

GenotypeQuality
all individuals: 417
bin: 5.75e1
variant carriers: 19

GenotypeQuality
all individuals: 1490
bin: 7.75e1
variant carriers: 10

GenotypeQuality
all individuals: 2166
bin: 4.25e1
variant carriers: 20

GenotypeQuality
all individuals: 3729
bin: 6.75e1
variant carriers: 16

GenotypeQuality
all individuals: 5672
bin: 3.25e1
variant carriers: 17

GenotypeQuality
all individuals: 759
bin: 5.25e1
variant carriers: 22

GenotypeQuality
all individuals: 688
bin: 9.25e1
variant carriers: 33

GenotypeQuality
all individuals: 1149
bin: 7.25e1
variant carriers: 14

African
type: Population
allele count: 1457
allele frequency: 1.528856243441763e-1
allele num: 9530
num of homozygotes: 103

East Asian
type: Population
allele count: 1
allele frequency: 1.251877816725087e-4
allele num: 7988
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 211
allele frequency: 3.238182934315531e-2
allele num: 6516
num of homozygotes: 3

Latino
type: Population
allele count: 251
allele frequency: 2.265342960288809e-2
allele num: 11080
num of homozygotes: 6

South Asian
type: Population
allele count: 980
allele frequency: 6.226175349428208e-2
allele num: 15740
num of homozygotes: 38

European (Non-Finnish)
type: Population
allele count: 2765
allele frequency: 4.350494052489143e-2
allele num: 63556
num of homozygotes: 55

Other
type: Population
allele count: 37
allele frequency: 4.233409610983982e-2
allele num: 874
num of homozygotes: 1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.8e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -7.97e-1

DP
type: SiteQuality
SIO_000300: 1.423975e6

VQSLOD
type: SiteQuality
SIO_000300: 6.39e0

MQ
type: SiteQuality
SIO_000300: 5.26e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.31e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.93e-1

QD
type: SiteQuality
SIO_000300: 1.79e1

GenotypeQuality
all individuals: 2341
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38536
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 517
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8924
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1608
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10658
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10280
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.089566533815306e-5
allele num: 64734
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.851e1

QD
type: SiteQuality
SIO_000300: 1.218e1

FS
type: SiteQuality
SIO_000300: 1.123e0

MQRankSum
type: SiteQuality
SIO_000300: 8.21e-1

DP
type: SiteQuality
SIO_000300: 1.653268e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.236e0

VQSLOD
type: SiteQuality
SIO_000300: -1.131e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.74e-1

GenotypeQuality
all individuals: 343
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2378
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2403
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8929
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 516
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 575
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variant carriers: 0

GenotypeQuality
all individuals: 229
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variant carriers: 0

GenotypeQuality
all individuals: 1787
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1601
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38598
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10278
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10682
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.544974198930878e-5
allele num: 64726
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.97e0

VQSLOD
type: SiteQuality
SIO_000300: -1.93e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

MQRankSum
type: SiteQuality
SIO_000300: 1.9e0

MQ
type: SiteQuality
SIO_000300: 5.863e1

QD
type: SiteQuality
SIO_000300: 1.559e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.5e-1

DP
type: SiteQuality
SIO_000300: 1.653958e6

GenotypeQuality
all individuals: 518
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1786
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8941
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 682
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.08641975308642e-5
allele num: 64800
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: 11508
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10754
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.799e0

VQSLOD
type: SiteQuality
SIO_000300: -2.725e0

QD
type: SiteQuality
SIO_000300: 1.783e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.487e0

MQRankSum
type: SiteQuality
SIO_000300: 1.3e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.657818e6

MQ
type: SiteQuality
SIO_000300: 5.849e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.26e0

GenotypeQuality
all individuals: 261
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1585
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 397
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variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 37
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variant carriers: 0

GenotypeQuality
all individuals: 524
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39416
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11042
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10300
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: 828
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64892
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.161710037174721e-4
allele num: 8608
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.431e1

VQSLOD
type: SiteQuality
SIO_000300: -1.683e0

MQRankSum
type: SiteQuality
SIO_000300: 1.31e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

FS
type: SiteQuality
SIO_000300: 4.347e0

MQ
type: SiteQuality
SIO_000300: 5.807e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.01e-1

DP
type: SiteQuality
SIO_000300: 1.665013e6