9-126133570-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 126133570
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 126133570
    reference: chr 9
allele count: 1
allele frequency: 8.323483877411729e-6
allele num: 120142
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000148204
  ensembl protein: ENSP00000435279
  ensembl transcript: ENST00000460253
  gene symbol: CRB2
  hgvsc: ENST00000460253.1:c.1153C>T
  hgvsp: ENSP00000435279.1:p.Leu385Phe
  variant of: http://identifiers.org/hgnc/18688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148204
  ensembl protein: ENSP00000362732
  ensembl transcript: ENST00000373629
  gene symbol: CRB2
  hgvsc: ENST00000373629.2:c.1153C>T
  hgvsp: ENSP00000362732.2:p.Leu385Phe
  variant of: http://identifiers.org/hgnc/18688
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000148204
  ensembl protein: ENSP00000362734
  ensembl transcript: ENST00000373631
  gene symbol: CRB2
  hgvsc: ENST00000373631.3:c.2149C>T
  hgvsp: ENSP00000362734.3:p.Leu717Phe
  variant of: http://identifiers.org/hgnc/18688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148204
  ensembl protein: ENSP00000353092
  ensembl transcript: ENST00000359999
  gene symbol: CRB2
  hgvsc: ENST00000359999.3:c.2149C>T
  hgvsp: ENSP00000353092.3:p.Leu717Phe
  variant of: http://identifiers.org/hgnc/18688
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5554
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3082
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8488
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10417
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11304
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2936
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4496
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2197
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1264
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20061
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6378
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4091
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14387
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu717Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum

5-32089770-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089770
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089770
    reference: chr 5
allele count: 3
allele frequency: 2.488717812582957e-5
allele num: 120544
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6216C>T
  hgvsp: ENST00000282493.3:c.6216C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6216C>T
  hgvsp: ENST00000438447.1:c.6216C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24229
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47044
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6537
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1569
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1513
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1755
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly2072Gly
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8628
  num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum

5-32089771-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089771
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089771
    reference: chr 5
allele count: 2
allele frequency: 1.658677370664632e-5
allele num: 120578
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6217G>A
  hgvsp: ENSP00000282493.3:p.Glu2073Lys
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6217G>A
  hgvsp: ENSP00000402033.1:p.Glu2073Lys
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27332
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24232
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5563
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1567
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1757
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1512
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 253
  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 315
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu2073Lys
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8630
  num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

5-32089775-AAGG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089775
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089772
    reference: chr 5
allele count: 1
allele frequency: 8.288300235387727e-6
allele num: 120652
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6225_6227delAGG
  hgvsp: ENSP00000282493.3:p.Gly2076del
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6225_6227delAGG
  hgvsp: ENSP00000402033.1:p.Gly2076del
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24252
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5557
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27416
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1760
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6554
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1576
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1512
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gly2076del
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8630
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: African
reference allele: AAGG
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

5-32089777-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089777
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089777
    reference: chr 5
allele count: 1
allele frequency: 8.286514526259965e-6
allele num: 120678
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6223G>A
  hgvsp: ENSP00000282493.3:p.Gly2075Arg
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6223G>A
  hgvsp: ENSP00000402033.1:p.Gly2075Arg
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24261
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5561
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27422
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1762
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1512
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1577
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47208
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6551
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly2075Arg
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8632
  num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

5-32089780-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089780
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089780
    reference: chr 5
allele count: 3
allele frequency: 2.485295335929086e-5
allele num: 120710
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6226G>A
  hgvsp: ENSP00000402033.1:p.Gly2076Ser
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6226G>A
  hgvsp: ENSP00000282493.3:p.Gly2076Ser
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27420
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24279
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5564
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1577
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1766
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 255
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genotype quality: GenotypeQuality
  all individuals: 1514
  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 767
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 317
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly2076Ser
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.509889778046203e-5
  allele num: 66230
  num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: African
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

5-32089798-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089798
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089798
    reference: chr 5
allele count: 2
allele frequency: 1.654423929587718e-5
allele num: 120888
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6244G>A
  hgvsp: ENSP00000282493.3:p.Asp2082Asn
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6244G>A
  hgvsp: ENSP00000402033.1:p.Asp2082Asn
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5577
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27394
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24350
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1774
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  variant carriers: 0
hgvs: p.Asp2082Asn
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 900
  num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/5-32089801-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089801
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089801
    reference: chr 5
allele count: 3
allele frequency: 2.481020195504391e-5
allele num: 120918
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6247C>A
  hgvsp: ENSP00000402033.1:p.Arg2083Ser
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6247C>A
  hgvsp: ENSP00000282493.3:p.Arg2083Ser
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
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genotype depth: GenotypeDepth
  all individuals: 207
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27402
  bin: 2.25e1
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genotype depth: GenotypeDepth
  all individuals: 24356
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 85
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 315
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6570
  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 252
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg2083Ser
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16506
  num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum

5-32089801-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089801
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089801
    reference: chr 5
allele count: 27
allele frequency: 2.232918175953952e-4
allele num: 120918
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6247C>T
  hgvsp: ENSP00000402033.1:p.Arg2083Cys
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6247C>T
  hgvsp: ENSP00000282493.3:p.Arg2083Cys
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24356
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 315
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1541
  bin: 9.75e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 6570
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1578
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47184
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 770
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1772
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg2083Cys
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 22
  allele frequency: 1.332848661092936e-3
  allele num: 16506
  num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

5-32089802-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089802
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089802
    reference: chr 5
allele count: 7
allele frequency: 5.788568404339772e-5
allele num: 120928
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6248G>A
  hgvsp: ENSP00000282493.3:p.Arg2083His
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6248G>A
  hgvsp: ENSP00000402033.1:p.Arg2083His
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 276
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
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genotype depth: GenotypeDepth
  all individuals: 162
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
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genotype depth: GenotypeDepth
  all individuals: 120
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 5583
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genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 295
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 85
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genotype quality: GenotypeQuality
  all individuals: 47220
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1578
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 61
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  variant carriers: 0
hgvs: p.Arg2083His
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10324
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

5-32089806-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089806
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089806
    reference: chr 5
allele count: 5
allele frequency: 4.133461195066301e-5
allele num: 120964
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6252C>T
  hgvsp: ENST00000282493.3:c.6252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6252C>T
  hgvsp: ENST00000438447.1:c.6252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 60
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 40
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genotype depth: GenotypeDepth
  all individuals: 180
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5582
  bin: 3.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 211
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 24407
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7
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genotype quality: GenotypeQuality
  all individuals: 82
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1518
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 28
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  variant carriers: 0
hgvs: p.Leu2084Leu
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 3
  allele frequency: 1.817520901490367e-4
  allele num: 16506
  num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

5-32089807-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089807
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089807
    reference: chr 5
allele count: 1
allele frequency: 8.264462809917356e-6
allele num: 121000
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6253G>A
  hgvsp: ENSP00000402033.1:p.Glu2085Lys
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6253G>A
  hgvsp: ENSP00000282493.3:p.Glu2085Lys
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 277
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 24423
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genotype depth: GenotypeDepth
  all individuals: 200
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genotype depth: GenotypeDepth
  all individuals: 81
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu2085Lys
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16506
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

5-32089808-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089808
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089808
    reference: chr 5
allele count: 1
allele frequency: 8.263097008758882e-6
allele num: 121020
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6254A>G
  hgvsp: ENSP00000282493.3:p.Glu2085Gly
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6254A>G
  hgvsp: ENSP00000402033.1:p.Glu2085Gly
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24423
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
  all individuals: 86
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 316
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 1587
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1515
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Glu2085Gly
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11558
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/5-32089810-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089810
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089810
    reference: chr 5
allele count: 1
allele frequency: 8.261731658955718e-6
allele num: 121040
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6256A>C
  hgvsp: ENST00000438447.1:c.6256A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6256A>C
  hgvsp: ENST00000282493.3:c.6256A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 206
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1516
  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 251
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg2086Arg
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 6.05913717886573e-5
  allele num: 16504
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
reference allele: A
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/5-32089814-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089814
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089814
    reference: chr 5
allele count: 1
allele frequency: 8.261185645363822e-6
allele num: 121048
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6260C>A
  hgvsp: ENSP00000402033.1:p.Thr2087Lys
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6260C>A
  hgvsp: ENSP00000282493.3:p.Thr2087Lys
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5587
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.5e0
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genotype depth: GenotypeDepth
  all individuals: 144
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 992
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
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genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47340
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Thr2087Lys
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8640
  num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/5-32089820-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089820
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089820
    reference: chr 5
allele count: 4
allele frequency: 3.303491790822899e-5
allele num: 121084
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6266A>C
  hgvsp: ENSP00000402033.1:p.Gln2089Pro
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6266A>C
  hgvsp: ENSP00000282493.3:p.Gln2089Pro
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
  all individuals: 31
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1520
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  variant carriers: 4
hgvs: p.Gln2089Pro
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66526
  num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD

5-32089820-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089820
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089820
    reference: chr 5
allele count: 1
allele frequency: 8.258729477057249e-6
allele num: 121084
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6266A>G
  hgvsp: ENSP00000402033.1:p.Gln2089Arg
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6266A>G
  hgvsp: ENSP00000282493.3:p.Gln2089Arg
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6593
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1520
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1589
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47352
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1774
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gln2089Arg
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6612
  num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum

5-32089822-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089822
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089822
    reference: chr 5
allele count: 1142
allele frequency: 9.431001734247255e-3
allele num: 121090
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6268C>T
  hgvsp: ENST00000282493.3:c.6268C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6268C>T
  hgvsp: ENST00000438447.1:c.6268C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 3.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 5459
  bin: 3.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 26971
  bin: 2.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.75e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 69
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 9.75e1
  variant carriers: 221
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 6.25e1
  variant carriers: 96
genotype depth: GenotypeDepth
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  variant carriers: 44
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 58
genotype depth: GenotypeDepth
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  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.75e1
  variant carriers: 107
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.25e1
  variant carriers: 103
genotype depth: GenotypeDepth
  all individuals: 24138
  bin: 2.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 78
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 87
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1695
  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 6416
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 2560
  bin: 9.75e1
  variant carriers: 1131
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 741
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 291
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46701
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1512
  bin: 7.75e1
  variant carriers: 1
hgvs: p.Leu2090Leu
num of homozygotes: 10
population: Latino
  type: Population
  allele count: 75
  allele frequency: 6.487889273356401e-3
  allele num: 11560
  num of homozygotes: 2
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

5-32089824-GAA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089824
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089822
    reference: chr 5
allele count: 1
allele frequency: 8.258183860205463e-6
allele num: 121092
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6273_6274delAA
  hgvsp: ENSP00000282493.3:p.Lys2091AsnfsTer7
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6273_6274delAA
  hgvsp: ENSP00000402033.1:p.Lys2091AsnfsTer7
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27091
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24706
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 296
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genotype quality: GenotypeQuality
  all individuals: 760
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 249
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 45
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47392
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Lys2091AsnfsTer7
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8638
  num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: GAA
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

5-32089828-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089828
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089828
    reference: chr 5
allele count: 1
allele frequency: 8.257092842751923e-6
allele num: 121108
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6274A>G
  hgvsp: ENSP00000282493.3:p.Ile2092Val
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6274A>G
  hgvsp: ENSP00000402033.1:p.Ile2092Val
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24702
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5665
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 93
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6568
  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 297
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile2092Val
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11562
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

5-32089830-CGTG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089830
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089827
    reference: chr 5
allele count: 2
allele frequency: 1.651364026686043e-5
allele num: 121112
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6278_6280delTGG
  hgvsp: ENSP00000282493.3:p.Val2093del
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6278_6280delTGG
  hgvsp: ENSP00000402033.1:p.Val2093del
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27114
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
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genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
  all individuals: 462
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
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genotype quality: GenotypeQuality
  all individuals: 298
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1735
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6552
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val2093del
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11562
  num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: CGTG
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD

5-32089831-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089831
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089831
    reference: chr 5
allele count: 16
allele frequency: 1.321025776515464e-4
allele num: 121118
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6277G>A
  hgvsp: ENSP00000282493.3:p.Val2093Met
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6277G>A
  hgvsp: ENSP00000402033.1:p.Val2093Met
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24706
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5668
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27119
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1735
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 250
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 760
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 1565
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 6552
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val2093Met
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 906
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum

5-32089840-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089840
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089840
    reference: chr 5
allele count: 1
allele frequency: 8.254639107178234e-6
allele num: 121144
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6286T>G
  hgvsp: ENSP00000402033.1:p.Ser2096Ala
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6286T>G
  hgvsp: ENSP00000282493.3:p.Ser2096Ala
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24715
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genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.5e0
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genotype depth: GenotypeDepth
  all individuals: 88
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27150
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser2096Ala
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16506
  num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum

5-32089860-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089860
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089860
    reference: chr 5
allele count: 1
allele frequency: 8.256138438929344e-6
allele num: 121122
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6306G>T
  hgvsp: ENSP00000402033.1:p.Glu2102Asp
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6306G>T
  hgvsp: ENSP00000282493.3:p.Glu2102Asp
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27089
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 24750
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 459
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genotype depth: GenotypeDepth
  all individuals: 88
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 68
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genotype quality: GenotypeQuality
  all individuals: 196
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 41
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hgvs: p.Glu2102Asp
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16504
  num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ

5-32089867-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089867
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089867
    reference: chr 5
allele count: 1
allele frequency: 8.257365570088519e-6
allele num: 121104
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6313T>C
  hgvsp: ENSP00000402033.1:p.Cys2105Arg
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6313T>C
  hgvsp: ENSP00000282493.3:p.Cys2105Arg
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 5686
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Cys2105Arg
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10326
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

5-32089870-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089870
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089870
    reference: chr 5
allele count: 12
allele frequency: 9.909984309191511e-5
allele num: 121090
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6316G>A
  hgvsp: ENSP00000402033.1:p.Gly2106Ser
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6316G>A
  hgvsp: ENSP00000282493.3:p.Gly2106Ser
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 24757
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27042
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 5686
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genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1535
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47512
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
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genotype quality: GenotypeQuality
  all individuals: 228
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6579
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1569
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 30
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genotype quality: GenotypeQuality
  all individuals: 763
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly2106Ser
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10322
  num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

5-32089871-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089871
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089871
    reference: chr 5
allele count: 1
allele frequency: 8.258865892535638e-6
allele num: 121082
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6317G>T
  hgvsp: ENSP00000282493.3:p.Gly2106Val
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6317G>T
  hgvsp: ENSP00000402033.1:p.Gly2106Val
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24762
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
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genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
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genotype depth: GenotypeDepth
  all individuals: 41
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 42
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 47498
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly2106Val
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10322
  num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ

http://identifiers.org/exac.variant/5-32089883-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089883
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089883
    reference: chr 5
allele count: 2
allele frequency: 1.653029175964956e-5
allele num: 120990
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6329C>A
  hgvsp: ENSP00000402033.1:p.Ala2110Asp
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6329C>A
  hgvsp: ENSP00000282493.3:p.Ala2110Asp
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 230
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 65
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genotype depth: GenotypeDepth
  all individuals: 459
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genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 768
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Ala2110Asp
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10302
  num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum

5-32089883-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089883
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089883
    reference: chr 5
allele count: 3
allele frequency: 2.479543763947434e-5
allele num: 120990
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6329C>T
  hgvsp: ENSP00000282493.3:p.Ala2110Val
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6329C>T
  hgvsp: ENSP00000402033.1:p.Ala2110Val
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26918
  bin: 2.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 230
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1534
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  variant carriers: 0
hgvs: p.Ala2110Val
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 904
  num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

5-32089885-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089885
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089885
    reference: chr 5
allele count: 1
allele frequency: 8.266512358435975e-6
allele num: 120970
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6331G>A
  hgvsp: ENSP00000402033.1:p.Glu2111Lys
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6331G>A
  hgvsp: ENSP00000282493.3:p.Glu2111Lys
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26902
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.75e1
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 767
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu2111Lys
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66478
  num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

5-32089890-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089890
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089890
    reference: chr 5
allele count: 8
allele frequency: 6.614631565021828e-5
allele num: 120944
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6336C>T
  hgvsp: ENST00000282493.3:c.6336C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6336C>T
  hgvsp: ENST00000438447.1:c.6336C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 248
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  variant carriers: 0
hgvs: p.Ser2112Ser
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 3
  allele frequency: 1.819505094614265e-4
  allele num: 16488
  num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

5-32089891-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089891
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089891
    reference: chr 5
allele count: 1
allele frequency: 8.268973158913126e-6
allele num: 120934
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6337G>A
  hgvsp: ENSP00000402033.1:p.Asp2113Asn
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6337G>A
  hgvsp: ENSP00000282493.3:p.Asp2113Asn
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24721
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Asp2113Asn
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD

5-32089897-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089897
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089897
    reference: chr 5
allele count: 1
allele frequency: 8.271845945141119e-6
allele num: 120892
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6343C>T
  hgvsp: ENSP00000402033.1:p.Arg2115Trp
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6343C>T
  hgvsp: ENSP00000282493.3:p.Arg2115Trp
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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hgvs: p.Arg2115Trp
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10292
  num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP

5-32089898-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089898
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089898
    reference: chr 5
allele count: 4
allele frequency: 3.308683640213741e-5
allele num: 120894
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6344G>A
  hgvsp: ENSP00000402033.1:p.Arg2115Gln
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6344G>A
  hgvsp: ENSP00000282493.3:p.Arg2115Gln
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1722
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47243
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1579
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6560
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1538
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg2115Gln
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16484
  num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD

5-32089901-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089901
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089901
    reference: chr 5
allele count: 6
allele frequency: 4.963928784168377e-5
allele num: 120872
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6347G>T
  hgvsp: ENSP00000282493.3:p.Gly2116Val
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6347G>T
  hgvsp: ENSP00000402033.1:p.Gly2116Val
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26788
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5688
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24700
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1538
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 6553
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genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 768
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genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 36
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 296
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1580
  bin: 9.75e1
  variant carriers: 6
hgvs: p.Gly2116Val
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 906
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

5-32089904-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089904
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089904
    reference: chr 5
allele count: 2
allele frequency: 1.654998924250699e-5
allele num: 120846
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6350G>A
  hgvsp: ENSP00000282493.3:p.Gly2117Glu
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6350G>A
  hgvsp: ENSP00000402033.1:p.Gly2117Glu
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5690
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1001
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24703
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26769
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1722
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
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genotype quality: GenotypeQuality
  all individuals: 769
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 248
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly2117Glu
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10282
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

5-32089905-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089905
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089905
    reference: chr 5
allele count: 1
allele frequency: 8.276364358664525e-6
allele num: 120826
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6351G>A
  hgvsp: ENST00000282493.3:c.6351G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6351G>A
  hgvsp: ENST00000438447.1:c.6351G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26760
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5691
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
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genotype depth: GenotypeDepth
  all individuals: 24703
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6553
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genotype quality: GenotypeQuality
  all individuals: 1540
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly2117Gly
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16472
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff

5-32089927-CAGG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089927
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089924
    reference: chr 5
allele count: 1
allele frequency: 8.286651861182008e-6
allele num: 120676
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6376_6378delGAG
  hgvsp: ENSP00000282493.3:p.Glu2126del
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6376_6378delGAG
  hgvsp: ENSP00000402033.1:p.Glu2126del
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5690
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24605
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1532
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1572
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6511
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu2126del
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 902
  num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: CAGG
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

5-32089937-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089937
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089937
    reference: chr 5
allele count: 2
allele frequency: 1.659365458648613e-5
allele num: 120528
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6383G>A
  hgvsp: ENSP00000402033.1:p.Ser2128Asn
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6383G>A
  hgvsp: ENSP00000282493.3:p.Ser2128Asn
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24537
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.25e1
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genotype depth: GenotypeDepth
  all individuals: 523
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
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genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 645
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser2128Asn
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

5-32089946-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089946
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089946
    reference: chr 5
allele count: 1
allele frequency: 8.308408109006315e-6
allele num: 120360
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6392G>T
  hgvsp: ENSP00000402033.1:p.Arg2131Met
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6392G>T
  hgvsp: ENSP00000282493.3:p.Arg2131Met
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
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genotype depth: GenotypeDepth
  all individuals: 5638
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
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genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
  all individuals: 168
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg2131Met
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66172
  num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

5-32089947-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089947
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089947
    reference: chr 5
allele count: 1
allele frequency: 8.307855908547122e-6
allele num: 120368
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6393G>T
  hgvsp: ENSP00000282493.3:p.Arg2131Ser
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6393G>T
  hgvsp: ENSP00000402033.1:p.Arg2131Ser
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Arg2131Ser
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8606
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

5-32089950-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089950
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089950
    reference: chr 5
allele count: 2
allele frequency: 1.6627315353663e-5
allele num: 120284
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6396C>T
  hgvsp: ENST00000438447.1:c.6396C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6396C>T
  hgvsp: ENST00000282493.3:c.6396C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 1689
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6402
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1573
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Leu2132Leu
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11516
  num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

5-32089952-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089952
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089952
    reference: chr 5
allele count: 1
allele frequency: 8.314625426124552e-6
allele num: 120270
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6398A>G
  hgvsp: ENSP00000282493.3:p.Tyr2133Cys
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6398A>G
  hgvsp: ENSP00000402033.1:p.Tyr2133Cys
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24294
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 103
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
  all individuals: 211
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genotype depth: GenotypeDepth
  all individuals: 516
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 280
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 249
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genotype quality: GenotypeQuality
  all individuals: 46276
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Tyr2133Cys
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.511852926947267e-5
  allele num: 66144
  num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

5-32089954-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089954
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089954
    reference: chr 5
allele count: 3
allele frequency: 2.496795778750603e-5
allele num: 120154
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6400C>T
  hgvsp: ENSP00000282493.3:p.Arg2134Cys
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6400C>T
  hgvsp: ENSP00000402033.1:p.Arg2134Cys
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 181
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26325
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 297
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg2134Cys
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16226
  num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP

5-32089955-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089955
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089955
    reference: chr 5
allele count: 1
allele frequency: 8.323068215867098e-6
allele num: 120148
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6401G>T
  hgvsp: ENSP00000282493.3:p.Arg2134Leu
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6401G>T
  hgvsp: ENSP00000402033.1:p.Arg2134Leu
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26353
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 46013
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  variant carriers: 0
hgvs: p.Arg2134Leu
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD

5-32089961-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089961
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089961
    reference: chr 5
allele count: 2
allele frequency: 1.665556295802798e-5
allele num: 120080
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6407T>C
  hgvsp: ENSP00000402033.1:p.Val2136Ala
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6407T>C
  hgvsp: ENSP00000282493.3:p.Val2136Ala
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23957
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Val2136Ala
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 892
  num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP

5-32089962-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089962
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089962
    reference: chr 5
allele count: 1
allele frequency: 8.331805835596807e-6
allele num: 120022
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6408C>G
  hgvsp: ENST00000438447.1:c.6408C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6408C>G
  hgvsp: ENST00000282493.3:c.6408C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23924
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5479
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26467
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1005
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 216
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genotype quality: GenotypeQuality
  all individuals: 346
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1508
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1660
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45771
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1578
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6263
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val2136Val
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 1
  allele frequency: 8.688097306689835e-5
  allele num: 11510
  num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD

5-32089962-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089962
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089962
    reference: chr 5
allele count: 2
allele frequency: 1.666361167119361e-5
allele num: 120022
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6408C>T
  hgvsp: ENST00000282493.3:c.6408C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6408C>T
  hgvsp: ENST00000438447.1:c.6408C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23924
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26467
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5479
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45771
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1660
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1508
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1005
  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 346
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 19
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genotype quality: GenotypeQuality
  all individuals: 216
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genotype quality: GenotypeQuality
  all individuals: 190
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genotype quality: GenotypeQuality
  all individuals: 1578
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6263
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val2136Val
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16148
  num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

5-32089967-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089967
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089967
    reference: chr 5
allele count: 1
allele frequency: 8.336668000533546e-6
allele num: 119952
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6413A>T
  hgvsp: ENSP00000282493.3:p.Glu2138Val
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6413A>T
  hgvsp: ENSP00000402033.1:p.Glu2138Val
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23775
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5376
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 70
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26590
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
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genotype quality: GenotypeQuality
  all individuals: 156
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 246
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 750
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genotype quality: GenotypeQuality
  all individuals: 1512
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Glu2138Val
num of homozygotes: 0
population: African
  type: Population
  allele count: 1
  allele frequency: 9.803921568627451e-5
  allele num: 10200
  num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP

5-32089968-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089968
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089968
    reference: chr 5
allele count: 2
allele frequency: 1.667222407469156e-5
allele num: 119960
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6414A>G
  hgvsp: ENST00000282493.3:c.6414A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6414A>G
  hgvsp: ENST00000438447.1:c.6414A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
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genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1510
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genotype quality: GenotypeQuality
  all individuals: 1656
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu2138Glu
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16104
  num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

5-32089978-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089978
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089978
    reference: chr 5
allele count: 1
allele frequency: 8.349196807267141e-6
allele num: 119772
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6424A>G
  hgvsp: ENSP00000282493.3:p.Ser2142Gly
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6424A>G
  hgvsp: ENSP00000402033.1:p.Ser2142Gly
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23608
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5320
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 1.75e1
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genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1581
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1250
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1504
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6169
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser2142Gly
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 892
  num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD

5-32089991-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089991
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089991
    reference: chr 5
allele count: 30
allele frequency: 2.509368308351178e-4
allele num: 119552
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6437C>T
  hgvsp: ENSP00000282493.3:p.Ser2146Leu
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6437C>T
  hgvsp: ENSP00000402033.1:p.Ser2146Leu
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26613
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5285
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genotype depth: GenotypeDepth
  all individuals: 1150
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genotype depth: GenotypeDepth
  all individuals: 23414
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genotype depth: GenotypeDepth
  all individuals: 273
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genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 90
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genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1507
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 292
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genotype quality: GenotypeQuality
  all individuals: 423
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 348
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1628
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser2146Leu
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 27
  allele frequency: 4.098360655737705e-4
  allele num: 65880
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/5-32089992-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089992
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089992
    reference: chr 5
allele count: 1
allele frequency: 8.365960579593749e-6
allele num: 119532
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6438A>C
  hgvsp: ENST00000282493.3:c.6438A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6438A>C
  hgvsp: ENST00000438447.1:c.6438A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26614
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1442
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1504
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1592
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ser2146Ser
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8602
  num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD

5-32089992-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089992
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089992
    reference: chr 5
allele count: 1
allele frequency: 8.365960579593749e-6
allele num: 119532
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6438A>G
  hgvsp: ENST00000438447.1:c.6438A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6438A>G
  hgvsp: ENST00000282493.3:c.6438A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5287
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23395
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser2146Ser
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 15856
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

5-32089992-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32089992
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32089992
    reference: chr 5
allele count: 10
allele frequency: 8.36596057959375e-5
allele num: 119532
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6438A>T
  hgvsp: ENST00000438447.1:c.6438A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6438A>T
  hgvsp: ENST00000282493.3:c.6438A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 1.25e1
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 1627
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser2146Ser
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8602
  num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum

5-32090003-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32090003
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32090003
    reference: chr 5
allele count: 1
allele frequency: 8.378577652657685e-6
allele num: 119352
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6449A>T
  hgvsp: ENSP00000282493.3:p.His2150Leu
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6449A>T
  hgvsp: ENSP00000402033.1:p.His2150Leu
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
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genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 87
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  variant carriers: 0
hgvs: p.His2150Leu
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 888
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

5-32090014-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32090014
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32090014
    reference: chr 5
allele count: 3
allele frequency: 2.520415364452062e-5
allele num: 119028
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6460G>T
  hgvsp: ENSP00000282493.3:p.Ala2154Ser
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6460G>T
  hgvsp: ENSP00000402033.1:p.Ala2154Ser
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1586
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Ala2154Ser
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 65708
  num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

5-32090017-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32090017
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32090017
    reference: chr 5
allele count: 2
allele frequency: 1.681322191771609e-5
allele num: 118954
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6463G>A
  hgvsp: ENSP00000402033.1:p.Glu2155Lys
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6463G>A
  hgvsp: ENSP00000282493.3:p.Glu2155Lys
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 44832
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hgvs: p.Glu2155Lys
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10182
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

5-32090022-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32090022
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32090022
    reference: chr 5
allele count: 4
allele frequency: 3.367343502710711e-5
allele num: 118788
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6468G>A
  hgvsp: ENST00000438447.1:c.6468G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6468G>A
  hgvsp: ENST00000282493.3:c.6468G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 3
genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 1588
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gln2156Gln
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 15394
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff

5-32090028-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32090028
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32090028
    reference: chr 5
allele count: 136
allele frequency: 1.146963077909154e-3
allele num: 118574
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6474G>A
  hgvsp: ENSP00000402033.1:p.Met2158Ile
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6474G>A
  hgvsp: ENSP00000282493.3:p.Met2158Ile
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 119
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
hgvs: p.Met2158Ile
num of homozygotes: 1
population: European (Non-Finnish)
  type: Population
  allele count: 115
  allele frequency: 1.75411836485662e-3
  allele num: 65560
  num of homozygotes: 1
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum

5-32090033-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32090033
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32090033
    reference: chr 5
allele count: 1
allele frequency: 8.4530853761623e-6
allele num: 118300
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6479G>A
  hgvsp: ENSP00000282493.3:p.Arg2160Gln
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6479G>A
  hgvsp: ENSP00000402033.1:p.Arg2160Gln
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Arg2160Gln
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10154
  num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum

5-32090038-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32090038
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32090038
    reference: chr 5
allele count: 1
allele frequency: 8.465680132741865e-6
allele num: 118124
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6484T>C
  hgvsp: ENSP00000402033.1:p.Phe2162Leu
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6484T>C
  hgvsp: ENSP00000282493.3:p.Phe2162Leu
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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hgvs: p.Phe2162Leu
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11500
  num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

5-32090048-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32090048
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32090048
    reference: chr 5
allele count: 1
allele frequency: 8.515566455480618e-6
allele num: 117432
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6494C>T
  hgvsp: ENSP00000402033.1:p.Ala2165Val
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6494C>T
  hgvsp: ENSP00000282493.3:p.Ala2165Val
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24671
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
  all individuals: 439
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1564
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1701
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1464
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3296
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42402
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala2165Val
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10120
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

5-32090058-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32090058
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32090058
    reference: chr 5
allele count: 1
allele frequency: 8.593280054996992e-6
allele num: 116370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6504G>A
  hgvsp: ENST00000282493.3:c.6504G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6504G>A
  hgvsp: ENST00000438447.1:c.6504G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3332
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24420
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21471
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5083
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1463
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1710
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5661
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 913
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3457
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1559
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 996
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41881
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala2168Ala
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10076
  num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff

5-32090058-GTCC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32090058
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32090055
    reference: chr 5
allele count: 12
allele frequency: 1.031193606599639e-4
allele num: 116370
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6517_6519delTCC
  hgvsp: ENSP00000402033.1:p.Ser2173del
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6517_6519delTCC
  hgvsp: ENSP00000282493.3:p.Ser2173del
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21471
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24420
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3332
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5083
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3457
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 913
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5661
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1710
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41881
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1463
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1559
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 996
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser2173del
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 64844
  num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: GTCC
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum

5-32090060-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32090060
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32090060
    reference: chr 5
allele count: 5
allele frequency: 4.309898975968003e-5
allele num: 116012
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6506C>G
  hgvsp: ENSP00000282493.3:p.Ser2169Cys
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6506C>G
  hgvsp: ENSP00000402033.1:p.Ser2169Cys
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3373
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5056
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2014
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21299
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1458
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1003
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5620
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3398
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 41462
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1701
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1547
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser2169Cys
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8586
  num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

5-32090061-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32090061
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32090061
    reference: chr 5
allele count: 2
allele frequency: 1.725536210377375e-5
allele num: 115906
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6507C>G
  hgvsp: ENST00000438447.1:c.6507C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6507C>G
  hgvsp: ENST00000282493.3:c.6507C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3366
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21298
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24316
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5059
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1700
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 932
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41517
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3421
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1457
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1546
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5618
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser2169Ser
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 1
  allele frequency: 8.712319219376198e-5
  allele num: 11478
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD

5-32090064-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32090064
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32090064
    reference: chr 5
allele count: 20
allele frequency: 1.718213058419244e-4
allele num: 116400
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6510C>T
  hgvsp: ENST00000438447.1:c.6510C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6510C>T
  hgvsp: ENST00000282493.3:c.6510C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.25e1
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genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 207
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5049
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24334
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5633
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1726
  bin: 9.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 1005
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 146
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 260
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 739
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 288
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genotype quality: GenotypeQuality
  all individuals: 41577
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser2170Ser
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 15
  allele frequency: 2.312744765487681e-4
  allele num: 64858
  num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/5-32090080-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32090080
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32090080
    reference: chr 5
allele count: 1
allele frequency: 8.65695932960507e-6
allele num: 115514
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6526A>C
  hgvsp: ENSP00000282493.3:p.Thr2176Pro
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6526A>C
  hgvsp: ENSP00000402033.1:p.Thr2176Pro
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3326
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24304
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5029
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3632
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1702
  bin: 9.75e1
  variant carriers: 0
hgvs: p.Thr2176Pro
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9834
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

5-32090081-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32090081
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32090081
    reference: chr 5
allele count: 1
allele frequency: 8.64528399757932e-6
allele num: 115670
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6527C>T
  hgvsp: ENSP00000402033.1:p.Thr2176Ile
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6527C>T
  hgvsp: ENSP00000282493.3:p.Thr2176Ile
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24316
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3327
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5050
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 169
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genotype depth: GenotypeDepth
  all individuals: 179
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genotype depth: GenotypeDepth
  all individuals: 70
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genotype depth: GenotypeDepth
  all individuals: 237
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 218
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 41481
  bin: 6.25e1
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hgvs: p.Thr2176Ile
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 1
  allele frequency: 8.70170553428472e-5
  allele num: 11492
  num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum

5-32090082-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32090082
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32090082
    reference: chr 5
allele count: 2
allele frequency: 1.728488954955578e-5
allele num: 115708
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6528A>G
  hgvsp: ENST00000438447.1:c.6528A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6528A>G
  hgvsp: ENST00000282493.3:c.6528A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 3328
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1712
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Thr2176Thr
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 7.305669199298655e-5
  allele num: 13688
  num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

5-32090086-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32090086
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32090086
    reference: chr 5
allele count: 1
allele frequency: 8.644835575227359e-6
allele num: 115676
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6532A>G
  hgvsp: ENSP00000402033.1:p.Ile2178Val
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6532A>G
  hgvsp: ENSP00000282493.3:p.Ile2178Val
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3316
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2497
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21203
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5038
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41560
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1051
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1466
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3698
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5640
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1710
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 247
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1572
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ile2178Val
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8594
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

5-32090096-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32090096
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32090096
    reference: chr 5
allele count: 1
allele frequency: 8.650668696690255e-6
allele num: 115598
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6542C>T
  hgvsp: ENSP00000282493.3:p.Ala2181Val
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6542C>T
  hgvsp: ENSP00000402033.1:p.Ala2181Val
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5037
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2506
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24444
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 984
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1471
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala2181Val
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8592
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

5-32090100-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32090100
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32090100
    reference: chr 5
allele count: 501
allele frequency: 4.327770291282264e-3
allele num: 115764
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6546A>G
  hgvsp: ENST00000438447.1:c.6546A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6546A>G
  hgvsp: ENST00000282493.3:c.6546A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21047
  bin: 2.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 3242
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  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 1.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 171
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  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 10
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.75e1
  variant carriers: 333
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 5583
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 481
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu2182Glu
num of homozygotes: 11
population: European (Non-Finnish)
  type: Population
  allele count: 3
  allele frequency: 4.642956634785031e-5
  allele num: 64614
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP

5-32090101-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32090101
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32090101
    reference: chr 5
allele count: 1
allele frequency: 8.639308855291577e-6
allele num: 115750
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6547T>C
  hgvsp: ENSP00000402033.1:p.Tyr2183His
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6547T>C
  hgvsp: ENSP00000282493.3:p.Tyr2183His
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3241
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1171
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 88
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 41645
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 244
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Tyr2183His
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11494
  num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

5-32090108-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32090108
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32090108
    reference: chr 5
allele count: 1
allele frequency: 8.632298608473465e-6
allele num: 115844
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6554A>G
  hgvsp: ENSP00000402033.1:p.Gln2185Arg
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6554A>G
  hgvsp: ENSP00000282493.3:p.Gln2185Arg
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2479
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5046
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21206
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24544
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5636
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1559
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3727
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41785
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1464
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1728
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1019
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gln2185Arg
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8596
  num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

5-32090120-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32090120
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 32090120
    reference: chr 5
allele count: 1
allele frequency: 8.605555746790128e-6
allele num: 116204
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000282493
  ensembl transcript: ENST00000282493
  gene symbol: PDZD2
  hgvsc: ENST00000282493.3:c.6566G>T
  hgvsp: ENSP00000282493.3:p.Ser2189Ile
  variant of: http://identifiers.org/hgnc/18486
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133401
  ensembl protein: ENSP00000402033
  ensembl transcript: ENST00000438447
  gene symbol: PDZD2
  hgvsc: ENST00000438447.1:c.6566G>T
  hgvsp: ENSP00000402033.1:p.Ser2189Ile
  variant of: http://identifiers.org/hgnc/18486
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21228
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3026
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2378
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24900
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5053
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3617
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1729
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42136
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1567
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5643
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1458
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser2189Ile
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11500
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

GenotypeQuality
all individuals: 61
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3095
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3523
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507658907248824e-5
allele num: 66328
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
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: 15720
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.89e-1

QD
type: SiteQuality
SIO_000300: 1.24e1

VQSLOD
type: SiteQuality
SIO_000300: 2.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.931e0

FS
type: SiteQuality
SIO_000300: 1.286e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 2.392233e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.61e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

MQRankSum
type: SiteQuality
SIO_000300: -8.5e-1

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

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.02571860816944e-5
allele num: 66100
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10254
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 5.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.01e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.21e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.582708e6

MQ
type: SiteQuality
SIO_000300: 5.974e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.52e0

FS
type: SiteQuality
SIO_000300: 2.22e0

QD
type: SiteQuality
SIO_000300: 1.336e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.6e-2

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512218727316719e-5
allele num: 66128
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.956e1

DP
type: SiteQuality
SIO_000300: 1.582926e6

FS
type: SiteQuality
SIO_000300: 8.864000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.05e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.94e-1

QD
type: SiteQuality
SIO_000300: 2.519e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.19e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.683e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.01e-1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510665296996797e-5
allele num: 66196
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10264
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.36e-1

MQ
type: SiteQuality
SIO_000300: 5.468e1

VQSLOD
type: SiteQuality
SIO_000300: 2.37e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.583702e6

MQRankSum
type: SiteQuality
SIO_000300: -1.695e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 6.7e-2

QD
type: SiteQuality
SIO_000300: 1.39e1

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

African
type: Population
allele count: 1
allele frequency: 9.737098344693281e-5
allele num: 10270
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
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: 898
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.332e1

FS
type: SiteQuality
SIO_000300: 7.768e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.37e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.67e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.6e-2

DP
type: SiteQuality
SIO_000300: 1.584124e6

VQSLOD
type: SiteQuality
SIO_000300: -6.605e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 5.969e1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 6.63e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.487e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.211e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.87e0

DP
type: SiteQuality
SIO_000300: 1.584784e6

VQSLOD
type: SiteQuality
SIO_000300: 3.94e-1

QD
type: SiteQuality
SIO_000300: 1.52e1

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66360
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10316
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157943492357573e-4
allele num: 8636
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 6.784e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.6e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.52e-1

DP
type: SiteQuality
SIO_000300: 1.586398e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.14e-1

QD
type: SiteQuality
SIO_000300: 1.591e1

MQRankSum
type: SiteQuality
SIO_000300: 1.84e0

VQSLOD
type: SiteQuality
SIO_000300: -7.161e-1

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.519297399897563e-5
allele num: 66382
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.53e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.71e0

FS
type: SiteQuality
SIO_000300: 1.103e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.27e-1

QD
type: SiteQuality
SIO_000300: 1.426e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e0

DP
type: SiteQuality
SIO_000300: 1.588184e6

MQRankSum
type: SiteQuality
SIO_000300: -1.17e-1

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.532162333162604e-5
allele num: 66382
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.588184e6

MQ
type: SiteQuality
SIO_000300: 5.962e1

FS
type: SiteQuality
SIO_000300: 1.103e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.53e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.27e-1

QD
type: SiteQuality
SIO_000300: 1.426e1

VQSLOD
type: SiteQuality
SIO_000300: 2.71e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.024803387779795e-4
allele num: 6612
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.024640780793445e-5
allele num: 66394
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 1.587327e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 1.11e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.268e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.68e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.92e0

MQRankSum
type: SiteQuality
SIO_000300: 2.39e-1

QD
type: SiteQuality
SIO_000300: 1.218e1

East Asian
type: Population
allele count: 1
allele frequency: 1.157675387821255e-4
allele num: 8638
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505525277769414e-5
allele num: 66422
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.84e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.981e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.86e0

QD
type: SiteQuality
SIO_000300: 1.384e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.49e-1

DP
type: SiteQuality
SIO_000300: 1.587958e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.96e-1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504845602841149e-5
allele num: 66452
num of homozygotes: 0

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.5e-1

MQ
type: SiteQuality
SIO_000300: 5.905e1

VQSLOD
type: SiteQuality
SIO_000300: 7.31e-1

QD
type: SiteQuality
SIO_000300: 1.314e1

FS
type: SiteQuality
SIO_000300: 3.284e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

DP
type: SiteQuality
SIO_000300: 1.588068e6

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66472
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 7.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e-1

DP
type: SiteQuality
SIO_000300: 1.588223e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.33e0

FS
type: SiteQuality
SIO_000300: 7.35e-1

QD
type: SiteQuality
SIO_000300: 1.218e1

VQSLOD
type: SiteQuality
SIO_000300: -8.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.2e-2

MQ
type: SiteQuality
SIO_000300: 5.75e1

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
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: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.588449e6

FS
type: SiteQuality
SIO_000300: 7.48e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.306e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.69e0

MQRankSum
type: SiteQuality
SIO_000300: 1.66e0

QD
type: SiteQuality
SIO_000300: 2.93e1

MQ
type: SiteQuality
SIO_000300: 5.929e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.2e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.169999999999999e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10336
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503804625703029e-5
allele num: 66498
num of homozygotes: 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: 902
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.588778e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.38e0

MQRankSum
type: SiteQuality
SIO_000300: 6.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.11e0

FS
type: SiteQuality
SIO_000300: 3.554e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.548e0

VQSLOD
type: SiteQuality
SIO_000300: 3.9e-1

QD
type: SiteQuality
SIO_000300: 1.34e1

MQ
type: SiteQuality
SIO_000300: 5.96e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

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

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

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

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

South Asian
type: Population
allele count: 4
allele frequency: 2.423361201987156e-4
allele num: 16506
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 6.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.58e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.97e-1

QD
type: SiteQuality
SIO_000300: 1.378e1

DP
type: SiteQuality
SIO_000300: 1.589311e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.67e-1

FS
type: SiteQuality
SIO_000300: 5.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 7.97e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10338
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: 1
allele frequency: 1.503171692270691e-5
allele num: 66526
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.97e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.5e-2

FS
type: SiteQuality
SIO_000300: 5.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.67e-1

DP
type: SiteQuality
SIO_000300: 1.589311e6

VQSLOD
type: SiteQuality
SIO_000300: 7.97e-1

QD
type: SiteQuality
SIO_000300: 1.378e1

MQ
type: SiteQuality
SIO_000300: 5.965e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.58e-1

South Asian
type: Population
allele count: 80
allele frequency: 4.846722403974313e-3
allele num: 16506
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 738
allele frequency: 1.109240666145614e-2
allele num: 66532
num of homozygotes: 5

African
type: Population
allele count: 74
allele frequency: 7.158057651383247e-3
allele num: 10338
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 159
allele frequency: 2.404718693284937e-2
allele num: 6612
num of homozygotes: 0

Other
type: Population
allele count: 14
allele frequency: 1.548672566371681e-2
allele num: 904
num of homozygotes: 1

East Asian
type: Population
allele count: 2
allele frequency: 2.31535077564251e-4
allele num: 8638
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.965e1

VQSLOD
type: SiteQuality
SIO_000300: 6.35e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.52e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.344e0

QD
type: SiteQuality
SIO_000300: 1.427e1

DP
type: SiteQuality
SIO_000300: 1.639273e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.31e-1

European (Finnish)
type: Population
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: 10340
num of homozygotes: 0

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.93e0

MQRankSum
type: SiteQuality
SIO_000300: 3.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e-3

QD
type: SiteQuality
SIO_000300: 1.965e1

MQ
type: SiteQuality
SIO_000300: 6.008e1

FS
type: SiteQuality
SIO_000300: 6.57e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.37e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.592843e6

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502810255177181e-5
allele num: 66542
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.593031e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.428e1

VQSLOD
type: SiteQuality
SIO_000300: -3.033e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

MQRankSum
type: SiteQuality
SIO_000300: -4.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.62e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.752e0

FS
type: SiteQuality
SIO_000300: 4.371e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.73e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.005620510354363e-5
allele num: 66542
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -5.11e-1

DP
type: SiteQuality
SIO_000300: 1.5933e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.580000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.512e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.85e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.155e0

MQ
type: SiteQuality
SIO_000300: 5.94e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.91e0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66544
num of homozygotes: 0

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

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

African
type: Population
allele count: 13
allele frequency: 1.255795981452859e-3
allele num: 10352
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.473830477072719e-4
allele num: 8636
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.424e1

FS
type: SiteQuality
SIO_000300: 1.131e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.91e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.12e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

DP
type: SiteQuality
SIO_000300: 1.594193e6

MQ
type: SiteQuality
SIO_000300: 5.968e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.11e0

MQRankSum
type: SiteQuality
SIO_000300: 4.17e-1

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502178158329578e-5
allele num: 66570
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: 8638
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -7.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.06e0

MQRankSum
type: SiteQuality
SIO_000300: -2.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.98e-1

QD
type: SiteQuality
SIO_000300: 1.409e1

FS
type: SiteQuality
SIO_000300: 1.0643e1

DP
type: SiteQuality
SIO_000300: 1.594194e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.85e-1

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502268425322237e-5
allele num: 66566
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.594424e6

MQRankSum
type: SiteQuality
SIO_000300: -4.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 8.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

QD
type: SiteQuality
SIO_000300: 1.231e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.623e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.5e-2

MQ
type: SiteQuality
SIO_000300: 5.968e1

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.157407407407407e-4
allele num: 8640
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66554
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.773e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.34e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.63e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.13e-1

DP
type: SiteQuality
SIO_000300: 1.594086e6

VQSLOD
type: SiteQuality
SIO_000300: 1.87e0

QD
type: SiteQuality
SIO_000300: 1.255e1

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.016048566448278e-5
allele num: 66548
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 6
allele frequency: 6.946052326927529e-4
allele num: 8638
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.67e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.949e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.75e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.57e-1

DP
type: SiteQuality
SIO_000300: 1.594574e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.005e0

QD
type: SiteQuality
SIO_000300: 1.135e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.88e-1

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

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -2.761e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.168e0

DP
type: SiteQuality
SIO_000300: 1.594458e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.6e0

QD
type: SiteQuality
SIO_000300: 1.429e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 9.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.44e0

FS
type: SiteQuality
SIO_000300: 1.726e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

East Asian
type: Population
allele count: 2
allele frequency: 2.317497103128621e-4
allele num: 8630
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66494
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: 904
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.142e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.25e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.53e0

QD
type: SiteQuality
SIO_000300: 1.267e1

MQ
type: SiteQuality
SIO_000300: 5.963e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.549e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

DP
type: SiteQuality
SIO_000300: 1.593458e6

MQRankSum
type: SiteQuality
SIO_000300: 4.49e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10302
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: 1
allele frequency: 8.656509695290859e-5
allele num: 11552
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.007790176557283e-5
allele num: 66494
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.267e1

FS
type: SiteQuality
SIO_000300: 1.142e0

VQSLOD
type: SiteQuality
SIO_000300: 2.53e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.549e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.25e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

DP
type: SiteQuality
SIO_000300: 1.593458e6

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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: 10302
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.159017153453871e-4
allele num: 8628
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.630000000000001e0

FS
type: SiteQuality
SIO_000300: 6.883e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.69e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

VQSLOD
type: SiteQuality
SIO_000300: 2.29e-1

DP
type: SiteQuality
SIO_000300: 1.593067e6

MQRankSum
type: SiteQuality
SIO_000300: 8.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.122e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

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

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

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

East Asian
type: Population
allele count: 3
allele frequency: 3.477857639693948e-4
allele num: 8626
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.008966720828068e-5
allele num: 66468
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.954e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.72e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.419e0

DP
type: SiteQuality
SIO_000300: 1.593328e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.51e0

QD
type: SiteQuality
SIO_000300: 1.278e1

MQRankSum
type: SiteQuality
SIO_000300: -1.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.1e-1

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66458
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06501698204755e-5
allele num: 16488
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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MQ
type: SiteQuality
SIO_000300: 5.957e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.94e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.638e0

DP
type: SiteQuality
SIO_000300: 1.592948e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.23e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.83e-1

FS
type: SiteQuality
SIO_000300: 4.267e0

QD
type: SiteQuality
SIO_000300: 1.292e1

VQSLOD
type: SiteQuality
SIO_000300: -2.434e-1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.066488716330988e-5
allele num: 16484
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: 8626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66426
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.288e0

QD
type: SiteQuality
SIO_000300: 1.288e1

VQSLOD
type: SiteQuality
SIO_000300: 1.98e0

FS
type: SiteQuality
SIO_000300: 1.692e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.2e-1

DP
type: SiteQuality
SIO_000300: 1.592354e6

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

East Asian
type: Population
allele count: 1
allele frequency: 1.159554730983302e-4
allele num: 8624
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.51616788101403e-5
allele num: 66428
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10292
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.136e0

QD
type: SiteQuality
SIO_000300: 1.265e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e0

DP
type: SiteQuality
SIO_000300: 1.592628e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.173e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

MQRankSum
type: SiteQuality
SIO_000300: 4.14e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.87e0

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: 11542
num of homozygotes: 0

African
type: Population
allele count: 0
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: 8626
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 3.641660597232338e-4
allele num: 16476
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66424
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.592238e6

FS
type: SiteQuality
SIO_000300: 4.748e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.356e0

MQRankSum
type: SiteQuality
SIO_000300: -3.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 9.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.5e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

QD
type: SiteQuality
SIO_000300: 1.167e1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.011957471160507e-5
allele num: 66402
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
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: 1.03e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.98e-1

QD
type: SiteQuality
SIO_000300: 9.470000000000001e0

DP
type: SiteQuality
SIO_000300: 1.591933e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.837e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.21e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.949e1

FS
type: SiteQuality
SIO_000300: 1.116e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.31e-1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506341698550899e-5
allele num: 66386
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10284
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: 904
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.907e1

MQRankSum
type: SiteQuality
SIO_000300: 2.72e-1

QD
type: SiteQuality
SIO_000300: 1.466e1

FS
type: SiteQuality
SIO_000300: 1.312e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.391e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.05e-1

DP
type: SiteQuality
SIO_000300: 1.591777e6

VQSLOD
type: SiteQuality
SIO_000300: 5.580000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

African
type: Population
allele count: 1
allele frequency: 9.750390015600624e-5
allele num: 10256
num of homozygotes: 0

Latino
type: Population
allele count: 0
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: 8614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66320
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16438
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.641e0

MQ
type: SiteQuality
SIO_000300: 5.697e1

FS
type: SiteQuality
SIO_000300: 5.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 7.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.23e0

DP
type: SiteQuality
SIO_000300: 1.588667e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.88e-1

QD
type: SiteQuality
SIO_000300: 1.547e1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66248
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.322880371660859e-4
allele num: 8610
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.973e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.306e0

VQSLOD
type: SiteQuality
SIO_000300: 2.33e0

FS
type: SiteQuality
SIO_000300: 8.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.71e-1

DP
type: SiteQuality
SIO_000300: 1.586166e6

QD
type: SiteQuality
SIO_000300: 1.188e1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16328
num of homozygotes: 0

African
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allele count: 0
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Other
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East Asian
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European (Finnish)
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InbreedingCoeff
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BaseQRankSum
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QD
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
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MQ
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MQRankSum
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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African
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European (Non-Finnish)
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South Asian
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Other
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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Latino
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ClippingRankSum
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FS
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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QD
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MQ
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DP
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ReadPosRankSum
type: SiteQuality
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European (Finnish)
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allele frequency: 0.0e0
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African
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South Asian
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Other
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East Asian
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European (Non-Finnish)
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ReadPosRankSum
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VQSLOD
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FS
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InbreedingCoeff
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MQ
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MQRankSum
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BaseQRankSum
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DP
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QD
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East Asian
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Latino
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African
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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Other
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FS
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SIO_000300: 7.34e-1

VQSLOD
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ReadPosRankSum
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MQ
type: SiteQuality
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InbreedingCoeff
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QD
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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DP
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African
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European (Finnish)
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allele num: 6614
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European (Non-Finnish)
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Latino
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Other
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East Asian
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InbreedingCoeff
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QD
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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East Asian
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African
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Latino
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Other
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European (Non-Finnish)
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allele frequency: 1.51290508033526e-5
allele num: 66098
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South Asian
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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MQ
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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Latino
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allele num: 11512
num of homozygotes: 0

East Asian
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allele frequency: 2.32396002788752e-4
allele num: 8606
num of homozygotes: 0

European (Non-Finnish)
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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African
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South Asian
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.84e-1

InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.98e1

MQRankSum
type: SiteQuality
SIO_000300: 1.58e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.2e-2

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.573144e6

European (Finnish)
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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East Asian
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Other
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South Asian
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ReadPosRankSum
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MQ
type: SiteQuality
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BaseQRankSum
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MQRankSum
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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East Asian
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allele num: 8606
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African
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European (Non-Finnish)
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Other
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Latino
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European (Finnish)
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FS
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QD
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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MQ
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MQRankSum
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BaseQRankSum
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DP
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Other
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East Asian
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South Asian
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European (Finnish)
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European (Non-Finnish)
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Latino
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InbreedingCoeff
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BaseQRankSum
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QD
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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MQ
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VQSLOD
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FS
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DP
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European (Finnish)
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African
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Latino
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East Asian
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European (Non-Finnish)
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Other
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InbreedingCoeff
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VQSLOD
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DP
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ClippingRankSum
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QD
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FS
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MQRankSum
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MQ
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BaseQRankSum
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ReadPosRankSum
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South Asian
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African
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East Asian
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European (Finnish)
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Latino
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European (Non-Finnish)
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ClippingRankSum
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InbreedingCoeff
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MQ
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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MQRankSum
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FS
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DP
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QD
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European (Finnish)
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East Asian
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Latino
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African
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Other
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South Asian
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BaseQRankSum
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MQ
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MQRankSum
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VQSLOD
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FS
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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QD
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DP
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European (Finnish)
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South Asian
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Latino
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European (Non-Finnish)
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African
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Other
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FS
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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MQRankSum
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DP
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MQ
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BaseQRankSum
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QD
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European (Non-Finnish)
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East Asian
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African
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Latino
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Other
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European (Finnish)
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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FS
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InbreedingCoeff
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QD
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DP
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MQRankSum
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MQ
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ClippingRankSum
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African
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Latino
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European (Non-Finnish)
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European (Finnish)
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South Asian
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Other
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ReadPosRankSum
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VQSLOD
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FS
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ClippingRankSum
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QD
type: SiteQuality
SIO_000300: 1.343e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.95e0

DP
type: SiteQuality
SIO_000300: 1.561042e6

MQ
type: SiteQuality
SIO_000300: 5.971e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.15e-1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65820
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15724
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African
type: Population
allele count: 1
allele frequency: 9.809691975671964e-5
allele num: 10194
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.06e0

VQSLOD
type: SiteQuality
SIO_000300: -1.462e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 6.02e0

DP
type: SiteQuality
SIO_000300: 1.555448e6

MQRankSum
type: SiteQuality
SIO_000300: -5.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.37e-1

Latino
type: Population
allele count: 3
allele frequency: 2.605976372480889e-4
allele num: 11512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10184
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South Asian
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: 8602
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.548012e6

QD
type: SiteQuality
SIO_000300: 1.252e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.99e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.571e0

MQRankSum
type: SiteQuality
SIO_000300: -7.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 9.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.05e-1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.522301720200944e-5
allele num: 65690
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
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: 884
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.685079034219212e-5
allele num: 11514
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15466
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.046e0

MQRankSum
type: SiteQuality
SIO_000300: 8.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.14e-1

DP
type: SiteQuality
SIO_000300: 1.546014e6

MQ
type: SiteQuality
SIO_000300: 5.936e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 5.343e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e0

VQSLOD
type: SiteQuality
SIO_000300: 1.76e-1

QD
type: SiteQuality
SIO_000300: 1.481e1

East Asian
type: Population
allele count: 4
allele frequency: 4.649000464900046e-4
allele num: 8604
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10168
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -3.78e-1

QD
type: SiteQuality
SIO_000300: 1.179e1

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.91e-1

FS
type: SiteQuality
SIO_000300: 2.458e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.360000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.541531e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.323e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

African
type: Population
allele count: 4
allele frequency: 3.937007874015748e-4
allele num: 10160
num of homozygotes: 0

Latino
type: Population
allele count: 17
allele frequency: 1.477490005214671e-3
allele num: 11506
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.02e-1

QD
type: SiteQuality
SIO_000300: 1.266e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.391e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.2e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

DP
type: SiteQuality
SIO_000300: 1.549946e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.53e-1

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.638343069569835e-5
allele num: 15064
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65490
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
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DP
type: SiteQuality
SIO_000300: 1.542854e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.38e-1

FS
type: SiteQuality
SIO_000300: 6.825e0

MQRankSum
type: SiteQuality
SIO_000300: 4.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.584e0

VQSLOD
type: SiteQuality
SIO_000300: 8.100000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.364e1

MQ
type: SiteQuality
SIO_000300: 5.967e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.33e0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10146
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.682705159048383e-5
allele num: 14964
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65420
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.157e0

VQSLOD
type: SiteQuality
SIO_000300: -2.051e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.7e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

FS
type: SiteQuality
SIO_000300: 2.688e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.7e-2

DP
type: SiteQuality
SIO_000300: 1.537474e6

MQ
type: SiteQuality
SIO_000300: 5.695e1

QD
type: SiteQuality
SIO_000300: 3.34e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.4e-1

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: 1.533413070813016e-5
allele num: 65214
num of homozygotes: 0

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: 8604
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: 14510
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VQSLOD
type: SiteQuality
SIO_000300: -1.073e0

FS
type: SiteQuality
SIO_000300: 5.965e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.850000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.541e0

QD
type: SiteQuality
SIO_000300: 1.412e1

MQ
type: SiteQuality
SIO_000300: 5.897e1

MQRankSum
type: SiteQuality
SIO_000300: 1.74e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

DP
type: SiteQuality
SIO_000300: 1.526789e6

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.199424046076313e-5
allele num: 13890
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64844
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: 868
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.649e1

FS
type: SiteQuality
SIO_000300: 4.113e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.2e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

MQ
type: SiteQuality
SIO_000300: 5.877e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.7e-2

DP
type: SiteQuality
SIO_000300: 1.519414e6

VQSLOD
type: SiteQuality
SIO_000300: 3.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

South Asian
type: Population
allele count: 10
allele frequency: 7.199424046076314e-4
allele num: 13890
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
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: 2
allele frequency: 1.984914648670107e-4
allele num: 10076
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.07e0

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

QD
type: SiteQuality
SIO_000300: 1.649e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.7e-2

DP
type: SiteQuality
SIO_000300: 1.519414e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

FS
type: SiteQuality
SIO_000300: 4.113e0

MQ
type: SiteQuality
SIO_000300: 5.877e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.2e-2

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13702
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10028
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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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: 5
allele frequency: 7.723439092959313e-5
allele num: 64738
num of homozygotes: 0

Other
type: Population
allele count: 0
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allele num: 864
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MQRankSum
type: SiteQuality
SIO_000300: 1.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.28e-1

QD
type: SiteQuality
SIO_000300: 1.464e1

DP
type: SiteQuality
SIO_000300: 1.514848e6

VQSLOD
type: SiteQuality
SIO_000300: 1.74e0

MQ
type: SiteQuality
SIO_000300: 5.936e1

FS
type: SiteQuality
SIO_000300: 5.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.67e-1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64702
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13654
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: 10018
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Other
type: Population
allele count: 1
allele frequency: 1.160092807424594e-3
allele num: 862
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VQSLOD
type: SiteQuality
SIO_000300: 1.49e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.826e0

MQRankSum
type: SiteQuality
SIO_000300: 8.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.808e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

DP
type: SiteQuality
SIO_000300: 1.514868e6

QD
type: SiteQuality
SIO_000300: 1.085e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10018
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
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Latino
type: Population
allele count: 5
allele frequency: 4.352367688022284e-4
allele num: 11488
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.981e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 8.999999999999999e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.803e0

VQSLOD
type: SiteQuality
SIO_000300: 5.13e0

DP
type: SiteQuality
SIO_000300: 1.514919e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.6e-2

QD
type: SiteQuality
SIO_000300: 1.41e1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.552216565255184e-5
allele num: 64424
num of homozygotes: 0

East Asian
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: 13702
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

FS
type: SiteQuality
SIO_000300: 1.70783e2

MQ
type: SiteQuality
SIO_000300: 5.803e1

QD
type: SiteQuality
SIO_000300: 3.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.7e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.757e0

VQSLOD
type: SiteQuality
SIO_000300: -1.4e2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.9e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

DP
type: SiteQuality
SIO_000300: 1.511635e6

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9896
num of homozygotes: 0

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64548
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.22e-1

FS
type: SiteQuality
SIO_000300: 8.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e0

DP
type: SiteQuality
SIO_000300: 1.510405e6

MQRankSum
type: SiteQuality
SIO_000300: -9.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.086e1

MQ
type: SiteQuality
SIO_000300: 5.972e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.477e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.548850752741466e-5
allele num: 64564
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

QD
type: SiteQuality
SIO_000300: 1.425e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 9.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

FS
type: SiteQuality
SIO_000300: 4.456e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.0e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

DP
type: SiteQuality
SIO_000300: 1.509327e6

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: 854
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9906
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.327080890973036e-5
allele num: 13648
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64566
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.595e1

FS
type: SiteQuality
SIO_000300: 7.493e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

DP
type: SiteQuality
SIO_000300: 1.509418e6

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

VQSLOD
type: SiteQuality
SIO_000300: -1.488e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.0e-2

MQ
type: SiteQuality
SIO_000300: 5.835e1

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

Latino
type: Population
allele count: 1
allele frequency: 8.700191404210893e-5
allele num: 11494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64574
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13558
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9912
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.98e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.999999999999999e-3

QD
type: SiteQuality
SIO_000300: 1.313e1

DP
type: SiteQuality
SIO_000300: 1.50971e6

FS
type: SiteQuality
SIO_000300: 2.766e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.49e-1

MQ
type: SiteQuality
SIO_000300: 5.91e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 5.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

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

Other
type: Population
allele count: 4
allele frequency: 4.68384074941452e-3
allele num: 854
num of homozygotes: 0

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

African
type: Population
allele count: 480
allele frequency: 4.82897384305835e-2
allele num: 9940
num of homozygotes: 11

Latino
type: Population
allele count: 14
allele frequency: 1.218026796589525e-3
allele num: 11494
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13652
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.14e-1

QD
type: SiteQuality
SIO_000300: 1.577e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.76e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.35e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.32e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.51e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.63e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

DP
type: SiteQuality
SIO_000300: 1.558353e6

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13640
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9926
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64626
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.85e1

QD
type: SiteQuality
SIO_000300: 1.741e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -7.64e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.65e0

VQSLOD
type: SiteQuality
SIO_000300: -3.663e0

FS
type: SiteQuality
SIO_000300: 3.361e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.84e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.109e0

DP
type: SiteQuality
SIO_000300: 1.513186e6

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
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: 9932
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13734
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64616
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.700191404210893e-5
allele num: 11494
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.318e1

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.809e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.6e-1

DP
type: SiteQuality
SIO_000300: 1.51487e6

FS
type: SiteQuality
SIO_000300: 9.452999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.48e-1

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: 64746
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13924
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.004823151125402e-4
allele num: 9952
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -9.159000000000001e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e0