17-38140655-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38140655
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38140655
    reference: chr 17
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.121-57A>G
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.329A>G
  hgvsp: ENSP00000264639.4:p.His110Arg
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.-29-57A>G
  variant of: http://identifiers.org/hgnc/9560
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12912
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4141
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2381
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6513
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9869
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12787
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8130
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2555
  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: 1.25e1
  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
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17345
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  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
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genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6570
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3950
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5410
  bin: 7.75e1
  variant carriers: 0
hgvs: p.His110Arg
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

17-38140658-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38140658
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38140658
    reference: chr 17
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.-29-54A>G
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.332A>G
  hgvsp: ENSP00000264639.4:p.Tyr111Cys
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.121-54A>G
  variant of: http://identifiers.org/hgnc/9560
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9869
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6511
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12788
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12913
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4142
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2381
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2555
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3384
  bin: 7.25e1
  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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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17345
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 4862
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
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genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5412
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6572
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16600
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Tyr111Cys
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP

17-38140666-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38140666
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38140666
    reference: chr 17
allele count: 339
allele frequency: 2.792559764074007e-3
allele num: 121394
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.121-46T>C
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.-29-46T>C
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.340T>C
  hgvsp: ENSP00000264639.4:p.Tyr114His
  variant of: http://identifiers.org/hgnc/9560
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 9.75e1
  variant carriers: 207
genotype depth: GenotypeDepth
  all individuals: 4119
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 6.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9811
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 5.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 6472
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 12752
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8102
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2361
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12850
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  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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  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
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 337
genotype quality: GenotypeQuality
  all individuals: 6
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3932
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Tyr114His
num of homozygotes: 2
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD

17-38140673-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38140673
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38140673
    reference: chr 17
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.347C>G
  hgvsp: ENSP00000264639.4:p.Ala116Gly
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.121-39C>G
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.-29-39C>G
  variant of: http://identifiers.org/hgnc/9560
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2377
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8109
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12806
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12918
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6513
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  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: 2.75e1
  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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  bin: 9.75e1
  variant carriers: 1
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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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 5413
  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 6588
  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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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 2548
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala116Gly
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

17-38140681-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38140681
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38140681
    reference: chr 17
allele count: 3
allele frequency: 2.471413978317461e-5
allele num: 121388
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.121-31G>A
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.355G>A
  hgvsp: ENSP00000264639.4:p.Gly119Ser
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.-29-31G>A
  variant of: http://identifiers.org/hgnc/9560
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12920
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2378
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12799
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9862
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6512
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8103
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16634
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6588
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2548
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4853
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5411
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17281
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3955
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly119Ser
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP

17-38140683-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38140683
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38140683
    reference: chr 17
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.-29-29C>T
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.357C>T
  hgvsp: ENST00000264639.4:c.357C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.121-29C>T
  variant of: http://identifiers.org/hgnc/9560
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6512
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12918
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2378
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12801
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8095
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9862
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6586
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4853
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16624
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3955
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2548
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3392
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5412
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly119Gly
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

17-38140702-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38140702
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38140702
    reference: chr 17
allele count: 11
allele frequency: 9.068724442685661e-5
allele num: 121296
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.121-10G>A
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.-29-10G>A
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.376G>A
  hgvsp: ENSP00000264639.4:p.Ala126Thr
  variant of: http://identifiers.org/hgnc/9560
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12806
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6513
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9866
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12910
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4142
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2378
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7942
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6574
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3388
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2547
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5408
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3953
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17285
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 16458
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala126Thr
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

17-38140706-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38140706
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38140706
    reference: chr 17
allele count: 2
allele frequency: 1.649675014022238e-5
allele num: 121236
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.380C>G
  hgvsp: ENSP00000264639.4:p.Thr127Ser
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.121-6C>G
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.-29-6C>G
  variant of: http://identifiers.org/hgnc/9560
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7884
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2377
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9862
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6512
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12918
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12809
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5405
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3953
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2547
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16401
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6576
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3389
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr127Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ

17-38140709-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38140709
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38140709
    reference: chr 17
allele count: 2
allele frequency: 1.650873311982039e-5
allele num: 121148
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.383G>A
  hgvsp: ENSP00000264639.4:p.Arg128Gln
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.-29-3G>A
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.121-3G>A
  variant of: http://identifiers.org/hgnc/9560
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7797
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9867
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6514
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2377
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12895
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12803
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4142
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6563
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4851
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5403
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16251
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2548
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17275
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3953
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg128Gln
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

17-38140716-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38140716
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38140716
    reference: chr 17
allele count: 2
allele frequency: 1.652810604432838e-5
allele num: 121006
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.125T>C
  hgvsp: ENSP00000407410.3:p.Phe42Ser
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.390T>C
  hgvsp: ENST00000264639.4:c.390T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.-25T>C
  variant of: http://identifiers.org/hgnc/9560
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4141
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7593
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12777
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6512
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9864
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12883
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3953
  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5401
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2546
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 4851
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 3383
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17274
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6537
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Phe42Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

17-38140722-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38140722
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38140722
    reference: chr 17
allele count: 1
allele frequency: 8.273077750384698e-6
allele num: 120874
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.396C>T
  hgvsp: ENST00000264639.4:c.396C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.-19C>T
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.131C>T
  hgvsp: ENSP00000407410.3:p.Ser44Phe
  variant of: http://identifiers.org/hgnc/9560
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12728
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6512
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7443
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12875
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9865
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
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genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5390
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 3379
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genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17274
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2546
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4850
  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3954
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genotype quality: GenotypeQuality
  all individuals: 105
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15788
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser44Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum

17-38140724-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38140724
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38140724
    reference: chr 17
allele count: 1
allele frequency: 8.277323444690924e-6
allele num: 120812
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.-17C>T
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.398C>T
  hgvsp: ENSP00000264639.4:p.Pro133Leu
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.133C>T
  hgvsp: ENSP00000407410.3:p.Pro45Ser
  variant of: http://identifiers.org/hgnc/9560
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9867
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12873
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12743
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7331
  bin: 2.25e1
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genotype depth: GenotypeDepth
  all individuals: 6510
  bin: 4.25e1
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genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 2377
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 5.75e1
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genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
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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
  all individuals: 46
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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
  all individuals: 2546
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 6510
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 3
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3954
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4852
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  variant carriers: 0
hgvs: p.Pro133Leu
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

17-38140728-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38140728
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38140728
    reference: chr 17
allele count: 1
allele frequency: 8.285690612312537e-6
allele num: 120690
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.402C>G
  hgvsp: ENSP00000264639.4:p.Phe134Leu
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.-13C>G
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.137C>G
  hgvsp: ENSP00000407410.3:p.Ser46Cys
  variant of: http://identifiers.org/hgnc/9560
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7225
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12655
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2375
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12884
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9865
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6510
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3377
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5387
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6496
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4849
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17272
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3955
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15528
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Phe134Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

17-38140737-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38140737
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38140737
    reference: chr 17
allele count: 1
allele frequency: 8.305647840531562e-6
allele num: 120400
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.-4G>C
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.411G>C
  hgvsp: ENSP00000264639.4:p.Glu137Asp
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.146G>C
  hgvsp: ENSP00000407410.3:p.Ser49Thr
  variant of: http://identifiers.org/hgnc/9560
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12454
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9866
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2375
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6796
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6511
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12855
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  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
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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: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6430
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3370
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5379
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 2546
  bin: 8.75e1
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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
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4843
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu137Asp
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ

17-38140748-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38140748
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38140748
    reference: chr 17
allele count: 1
allele frequency: 8.338614455822021e-6
allele num: 119924
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.411+11C>G
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.-4+11C>G
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.146+11C>G
  variant of: http://identifiers.org/hgnc/9560
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9864
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12145
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2375
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12812
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6510
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4841
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  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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  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
  all individuals: 3360
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14001
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

17-38140752-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38140752
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38140752
    reference: chr 17
allele count: 1
allele frequency: 8.353800143685363e-6
allele num: 119706
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.411+15C>T
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.146+15C>T
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.-4+15C>T
  variant of: http://identifiers.org/hgnc/9560
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12795
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6511
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 2375
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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
  all individuals: 4142
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
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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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  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
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 6334
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genotype quality: GenotypeQuality
  all individuals: 17273
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

17-38140755-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38140755
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38140755
    reference: chr 17
allele count: 1
allele frequency: 8.353660574063554e-6
allele num: 119708
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.411+18A>T
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.-4+18A>T
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.146+18A>T
  variant of: http://identifiers.org/hgnc/9560
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4142
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11993
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12768
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2375
  bin: 5.25e1
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genotype depth: GenotypeDepth
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  bin: 5.75e1
  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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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6509
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5626
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6318
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13435
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17270
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2046
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3357
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4838
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3953
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2545
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5364
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

17-38140766-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38140766
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38140766
    reference: chr 17
allele count: 3
allele frequency: 2.516314103101777e-5
allele num: 119222
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.-4+29G>A
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.411+29G>A
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.146+29G>A
  variant of: http://identifiers.org/hgnc/9560
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4141
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2791
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12696
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4701
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11484
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6505
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 875
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17269
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3328
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3946
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6198
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2540
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5340
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11987
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4833
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2426
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

17-38140768-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38140768
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38140768
    reference: chr 17
allele count: 3
allele frequency: 2.518130539887188e-5
allele num: 119136
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.411+31A>G
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.-4+31A>G
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.146+31A>G
  variant of: http://identifiers.org/hgnc/9560
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12689
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4641
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9832
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11463
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4141
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6505
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6178
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5335
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3943
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4824
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3320
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11962
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17270
  bin: 9.75e1
  variant carriers: 3
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD

17-38140768-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38140768
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38140767
    reference: chr 17
allele count: 1
allele frequency: 8.393768466290626e-6
allele num: 119136
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.411+33delG
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.-4+33delG
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.146+33delG
  variant of: http://identifiers.org/hgnc/9560
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4141
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9832
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11463
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4641
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6505
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12689
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 3943
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11962
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2482
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17270
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3320
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4824
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: AG
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP

17-38140770-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38140770
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38140770
    reference: chr 17
allele count: 1
allele frequency: 8.40039649871474e-6
allele num: 119042
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.411+33G>A
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.-4+33G>A
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.146+33G>A
  variant of: http://identifiers.org/hgnc/9560
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4524
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2858
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4140
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2375
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9828
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12636
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5326
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 7.5e0
  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: 17268
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6163
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4823
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11687
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2514
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3940
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3309
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

17-38140788-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38140788
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38140788
    reference: chr 17
allele count: 1
allele frequency: 8.514986376021799e-6
allele num: 117440
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.-4+51A>G
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.411+51A>G
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.146+51A>G
  variant of: http://identifiers.org/hgnc/9560
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9660
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5818
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11339
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2599
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6480
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4134
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2375
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10145
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1691
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1315
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 318
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2525
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3144
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4771
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1785
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6453
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1366
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 5294
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 17256
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 2133
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5201
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3929
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

17-38140789-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38140789
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38140789
    reference: chr 17
allele count: 3
allele frequency: 2.556934406109369e-5
allele num: 117328
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.146+52G>A
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.411+52G>A
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.-4+52G>A
  variant of: http://identifiers.org/hgnc/9560
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2607
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2375
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5784
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4134
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6480
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2471
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11329
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9649
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10204
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1368
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3148
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1312
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 922
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1709
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5818
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 848
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 17257
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 5241
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 2294
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1194
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3928
  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2526
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5203
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

17-38142788-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38142788
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38142788
    reference: chr 17
allele count: 1
allele frequency: 8.254775387561705e-6
allele num: 121142
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.147-40C>G
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.412-40C>G
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.-3-40C>G
  variant of: http://identifiers.org/hgnc/9560
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1832
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2515
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2364
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3831
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3603
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3699
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2703
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2471
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19490
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3256
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3088
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3422
  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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 759
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

17-38142790-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38142790
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38142790
    reference: chr 17
allele count: 5
allele frequency: 4.125616779708567e-5
allele num: 121194
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.-3-38G>C
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.147-38G>C
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.412-38G>C
  variant of: http://identifiers.org/hgnc/9560
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3831
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2515
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2863
  bin: 2.25e1
  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: 3088
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2703
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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: 2
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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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51059
  bin: 9.75e1
  variant carriers: 5
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

17-38142803-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38142803
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38142803
    reference: chr 17
allele count: 1
allele frequency: 8.24715060946443e-6
allele num: 121254
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.-3-25C>T
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.147-25C>T
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.412-25C>T
  variant of: http://identifiers.org/hgnc/9560
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3089
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3604
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3256
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2703
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3840
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3078
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3699
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19488
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3831
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2515
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2471
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51061
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4017
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 924
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1531
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-38142828-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38142828
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38142828
    reference: chr 17
allele count: 2
allele frequency: 1.647935137272997e-5
allele num: 121364
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.147C>G
  hgvsp: ENSP00000407410.3:p.Ser49Arg
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.412C>G
  hgvsp: ENSP00000264639.4:p.Pro138Ala
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.-3C>G
  variant of: http://identifiers.org/hgnc/9560
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19487
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3831
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3089
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2863
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3083
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3256
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3605
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2703
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2471
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3840
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3699
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 793
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51067
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1603
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4260
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro138Ala
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-38142831-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38142831
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38142831
    reference: chr 17
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.150A>G
  hgvsp: ENST00000415039.3:c.150A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.1A>G
  hgvsp: ENSP00000442508.1:p.Met1?
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.415A>G
  hgvsp: ENSP00000264639.4:p.Met139Val
  variant of: http://identifiers.org/hgnc/9560
canonical: false
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19486
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1768
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2869
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2703
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3605
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3088
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3831
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3840
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3089
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2471
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3699
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51067
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4278
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1614
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 958
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-38142839-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38142839
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38142839
    reference: chr 17
allele count: 3
allele frequency: 2.47137325974133e-5
allele num: 121390
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.423A>G
  hgvsp: ENST00000264639.4:c.423A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.9A>G
  hgvsp: ENST00000541736.1:c.9A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.158A>G
  hgvsp: ENSP00000407410.3:p.Gln53Arg
  variant of: http://identifiers.org/hgnc/9560
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1767
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19486
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2703
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3089
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3699
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1832
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3084
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3831
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3605
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2471
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3840
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3257
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51067
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1618
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 958
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gln53Arg
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

17-38142848-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38142848
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38142848
    reference: chr 17
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.432T>C
  hgvsp: ENST00000264639.4:c.432T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.167T>C
  hgvsp: ENSP00000407410.3:p.Ile56Thr
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.18T>C
  hgvsp: ENST00000541736.1:c.18T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9560
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3840
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1770
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3087
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2703
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2893
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3089
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3831
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2471
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19484
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3605
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3701
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2517
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  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: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 958
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4318
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51067
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1613
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ile56Thr
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

17-38142854-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38142854
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38142854
    reference: chr 17
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.24G>A
  hgvsp: ENST00000541736.1:c.24G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.173G>A
  hgvsp: ENSP00000407410.3:p.Ser58Asn
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.438G>A
  hgvsp: ENST00000264639.4:c.438G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9560
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3840
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19483
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3606
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3702
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3081
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3089
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2703
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2471
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3831
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1613
  bin: 6.75e1
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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: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 780
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 718
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 5
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genotype quality: GenotypeQuality
  all individuals: 4317
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 7
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51068
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ser58Asn
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-38142854-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38142854
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38142854
    reference: chr 17
allele count: 2
allele frequency: 1.647337901950448e-5
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.173G>T
  hgvsp: ENSP00000407410.3:p.Ser58Ile
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.438G>T
  hgvsp: ENSP00000264639.4:p.Gln146His
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.24G>T
  hgvsp: ENSP00000442508.1:p.Gln8His
  variant of: http://identifiers.org/hgnc/9560
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3840
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2471
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3702
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3081
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3831
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19483
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3089
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3606
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2703
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1613
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 718
  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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  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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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51068
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Gln146His
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD

17-38142859-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38142859
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38142859
    reference: chr 17
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.178G>A
  hgvsp: ENSP00000407410.3:p.Val60Ile
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.29G>A
  hgvsp: ENSP00000442508.1:p.Arg10His
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.443G>A
  hgvsp: ENSP00000264639.4:p.Arg148His
  variant of: http://identifiers.org/hgnc/9560
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19482
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2901
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3089
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3605
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2471
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3081
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3703
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2703
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1832
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3831
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
  all individuals: 3840
  bin: 7.25e1
  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: 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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  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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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 413
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51069
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1610
  bin: 6.75e1
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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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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg148His
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum

17-38142862-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38142862
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38142862
    reference: chr 17
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.446C>T
  hgvsp: ENSP00000264639.4:p.Pro149Leu
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000444980
  ensembl transcript: ENST00000540504
  gene symbol: PSMD3
  hgvsc: ENST00000540504.2:c.1C>T
  hgvsp: ENST00000540504.2:c.1C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.32C>T
  hgvsp: ENSP00000442508.1:p.Pro11Leu
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.181C>T
  hgvsp: ENSP00000407410.3:p.Pro61Ser
  variant of: http://identifiers.org/hgnc/9560
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3605
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3088
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3089
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2903
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2703
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3703
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1770
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3840
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2471
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3832
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19481
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51068
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1610
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 958
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4328
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro149Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

17-38142865-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38142865
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38142865
    reference: chr 17
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.35G>A
  hgvsp: ENSP00000442508.1:p.Arg12His
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.184G>A
  hgvsp: ENSP00000407410.3:p.Ala62Thr
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.449G>A
  hgvsp: ENSP00000264639.4:p.Arg150His
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000444980
  ensembl transcript: ENST00000540504
  gene symbol: PSMD3
  hgvsc: ENST00000540504.2:c.4G>A
  hgvsp: ENSP00000444980.2:p.Arg2His
  variant of: http://identifiers.org/hgnc/9560
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3089
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3832
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3703
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2903
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3089
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2471
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19481
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2703
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3605
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3840
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4332
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1608
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg150His
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

17-38142865-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38142865
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38142865
    reference: chr 17
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.35G>T
  hgvsp: ENSP00000442508.1:p.Arg12Leu
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.184G>T
  hgvsp: ENSP00000407410.3:p.Ala62Ser
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.449G>T
  hgvsp: ENSP00000264639.4:p.Arg150Leu
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000444980
  ensembl transcript: ENST00000540504
  gene symbol: PSMD3
  hgvsc: ENST00000540504.2:c.4G>T
  hgvsp: ENSP00000444980.2:p.Arg2Leu
  variant of: http://identifiers.org/hgnc/9560
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3605
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3703
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3089
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2903
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19481
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3089
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2703
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2471
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3832
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3840
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1608
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4332
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51067
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Arg150Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum

17-38142868-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38142868
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38142868
    reference: chr 17
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.452C>T
  hgvsp: ENSP00000264639.4:p.Thr151Met
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.38C>T
  hgvsp: ENSP00000442508.1:p.Thr13Met
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.187C>T
  hgvsp: ENSP00000407410.3:p.Arg63Trp
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000444980
  ensembl transcript: ENST00000540504
  gene symbol: PSMD3
  hgvsc: ENST00000540504.2:c.7C>T
  hgvsp: ENSP00000444980.2:p.Thr3Met
  variant of: http://identifiers.org/hgnc/9560
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3840
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2471
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3605
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2704
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3703
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3832
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2905
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3091
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3090
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1770
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19479
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 51067
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1606
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr151Met
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-38142869-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38142869
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38142869
    reference: chr 17
allele count: 269
allele frequency: 2.215596481402168e-3
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.188G>A
  hgvsp: ENSP00000407410.3:p.Arg63Gln
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.39G>A
  hgvsp: ENST00000541736.1:c.39G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000444980
  ensembl transcript: ENST00000540504
  gene symbol: PSMD3
  hgvsc: ENST00000540504.2:c.8G>A
  hgvsp: ENST00000540504.2:c.8G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.453G>A
  hgvsp: ENST00000264639.4:c.453G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9560
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2515
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3085
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3837
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2473
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3259
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3846
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3605
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2704
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19490
  bin: 9.75e1
  variant carriers: 237
genotype depth: GenotypeDepth
  all individuals: 3704
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3092
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51095
  bin: 9.75e1
  variant carriers: 268
hgvs: p.Arg63Gln
num of homozygotes: 1
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum

17-38142870-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38142870
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38142870
    reference: chr 17
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.454G>A
  hgvsp: ENSP00000264639.4:p.Gly152Arg
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000444980
  ensembl transcript: ENST00000540504
  gene symbol: PSMD3
  hgvsc: ENST00000540504.2:c.9G>A
  hgvsp: ENSP00000444980.2:p.Gly4Arg
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.189G>A
  hgvsp: ENST00000415039.3:c.189G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.40G>A
  hgvsp: ENSP00000442508.1:p.Gly14Arg
  variant of: http://identifiers.org/hgnc/9560
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3092
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3262
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3704
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3096
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3834
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2708
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2480
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3847
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19447
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2519
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3607
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51077
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1602
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly152Arg
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

17-38142877-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38142877
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38142877
    reference: chr 17
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.196C>G
  hgvsp: ENSP00000407410.3:p.Leu66Val
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.47C>G
  hgvsp: ENSP00000442508.1:p.Ala16Gly
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000444980
  ensembl transcript: ENST00000540504
  gene symbol: PSMD3
  hgvsc: ENST00000540504.2:c.16C>G
  hgvsp: ENSP00000444980.2:p.Ala6Gly
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.461C>G
  hgvsp: ENSP00000264639.4:p.Ala154Gly
  variant of: http://identifiers.org/hgnc/9560
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3834
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3704
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3096
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2708
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3847
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3262
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3607
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2519
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3094
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2895
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19447
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2480
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51076
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1604
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala154Gly
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

17-38142880-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38142880
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38142880
    reference: chr 17
allele count: 3
allele frequency: 2.471047559428694e-5
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000444980
  ensembl transcript: ENST00000540504
  gene symbol: PSMD3
  hgvsc: ENST00000540504.2:c.19C>T
  hgvsp: ENSP00000444980.2:p.Ala7Val
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.464C>T
  hgvsp: ENSP00000264639.4:p.Ala155Val
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.50C>T
  hgvsp: ENSP00000442508.1:p.Ala17Val
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.199C>T
  hgvsp: ENSP00000407410.3:p.Arg67Cys
  variant of: http://identifiers.org/hgnc/9560
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3847
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3088
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3096
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19446
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2897
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3607
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2519
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3704
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3834
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2480
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2708
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4331
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51076
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1604
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala155Val
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD

17-38142881-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38142881
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38142881
    reference: chr 17
allele count: 11
allele frequency: 9.060507717905211e-5
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.465G>A
  hgvsp: ENST00000264639.4:c.465G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.200G>A
  hgvsp: ENSP00000407410.3:p.Arg67His
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000444980
  ensembl transcript: ENST00000540504
  gene symbol: PSMD3
  hgvsc: ENST00000540504.2:c.20G>A
  hgvsp: ENST00000540504.2:c.20G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.51G>A
  hgvsp: ENST00000541736.1:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9560
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2480
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3705
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2519
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3090
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2900
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3835
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3847
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2708
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3096
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19444
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1608
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg67His
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

17-38142883-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38142883
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38142883
    reference: chr 17
allele count: 7
allele frequency: 5.765872623636783e-5
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.53C>T
  hgvsp: ENSP00000442508.1:p.Ser18Leu
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000444980
  ensembl transcript: ENST00000540504
  gene symbol: PSMD3
  hgvsc: ENST00000540504.2:c.22C>T
  hgvsp: ENSP00000444980.2:p.Ser8Leu
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.202C>T
  hgvsp: ENSP00000407410.3:p.Arg68Ter
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.467C>T
  hgvsp: ENSP00000264639.4:p.Ser156Leu
  variant of: http://identifiers.org/hgnc/9560
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3835
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2519
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3848
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3705
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3085
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2905
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19436
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2708
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3265
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1606
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4329
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg68Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP

17-38142884-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38142884
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38142884
    reference: chr 17
allele count: 3
allele frequency: 2.471047559428694e-5
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.468G>A
  hgvsp: ENST00000264639.4:c.468G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000444980
  ensembl transcript: ENST00000540504
  gene symbol: PSMD3
  hgvsc: ENST00000540504.2:c.23G>A
  hgvsp: ENST00000540504.2:c.23G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.54G>A
  hgvsp: ENST00000541736.1:c.54G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.203G>A
  hgvsp: ENSP00000407410.3:p.Arg68Gln
  variant of: http://identifiers.org/hgnc/9560
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3705
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3082
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19433
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3848
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3265
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2907
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2519
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3099
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3835
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2709
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 7.75e1
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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: 1
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genotype quality: GenotypeQuality
  all individuals: 51075
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg68Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS

17-38142891-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38142891
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38142891
    reference: chr 17
allele count: 3
allele frequency: 2.471047559428694e-5
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.61C>T
  hgvsp: ENSP00000442508.1:p.Leu21Phe
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.210C>T
  hgvsp: ENST00000415039.3:c.210C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.475C>T
  hgvsp: ENSP00000264639.4:p.Leu159Phe
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000444980
  ensembl transcript: ENST00000540504
  gene symbol: PSMD3
  hgvsc: ENST00000540504.2:c.30C>T
  hgvsp: ENSP00000444980.2:p.Leu11Phe
  variant of: http://identifiers.org/hgnc/9560
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3083
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3848
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2520
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3265
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3835
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2914
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2709
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3099
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3705
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19432
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3609
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  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: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu159Phe
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ

17-38142897-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38142897
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38142897
    reference: chr 17
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.481C>T
  hgvsp: ENSP00000264639.4:p.Pro161Ser
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.67C>T
  hgvsp: ENSP00000442508.1:p.Pro23Ser
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.216C>T
  hgvsp: ENST00000415039.3:c.216C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000444980
  ensembl transcript: ENST00000540504
  gene symbol: PSMD3
  hgvsc: ENST00000540504.2:c.36C>T
  hgvsp: ENSP00000444980.2:p.Pro13Ser
  variant of: http://identifiers.org/hgnc/9560
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3265
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2710
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2519
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3609
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3077
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3835
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3848
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2918
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3099
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3705
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19431
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1608
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4338
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro161Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

17-38142899-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38142899
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38142899
    reference: chr 17
allele count: 317
allele frequency: 2.611116602418372e-3
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.483T>C
  hgvsp: ENST00000264639.4:c.483T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.218T>C
  hgvsp: ENSP00000407410.3:p.Leu73Pro
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.69T>C
  hgvsp: ENST00000541736.1:c.69T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000444980
  ensembl transcript: ENST00000540504
  gene symbol: PSMD3
  hgvsc: ENST00000540504.2:c.38T>C
  hgvsp: ENST00000540504.2:c.38T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9560
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3071
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2478
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3102
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2517
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 19459
  bin: 9.75e1
  variant carriers: 265
genotype depth: GenotypeDepth
  all individuals: 3264
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3704
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2909
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3848
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3612
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3835
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2712
  bin: 8.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 4333
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1605
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 953
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51099
  bin: 9.75e1
  variant carriers: 313
genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 3
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genotype quality: GenotypeQuality
  all individuals: 0
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu73Pro
num of homozygotes: 4
population: African
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/17-38142902-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38142902
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38142902
    reference: chr 17
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.486A>C
  hgvsp: ENSP00000264639.4:p.Glu162Asp
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000444980
  ensembl transcript: ENST00000540504
  gene symbol: PSMD3
  hgvsc: ENST00000540504.2:c.41A>C
  hgvsp: ENSP00000444980.2:p.Glu14Asp
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.72A>C
  hgvsp: ENSP00000442508.1:p.Glu24Asp
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.221A>C
  hgvsp: ENSP00000407410.3:p.Lys74Thr
  variant of: http://identifiers.org/hgnc/9560
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3287
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3625
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2726
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3106
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2916
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1846
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2531
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3721
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19287
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3079
  bin: 2.25e1
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genotype depth: GenotypeDepth
  all individuals: 2480
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3852
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3863
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1611
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51055
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 5
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genotype quality: GenotypeQuality
  all individuals: 781
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu162Asp
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/17-38142915-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38142915
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38142915
    reference: chr 17
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000444980
  ensembl transcript: ENST00000540504
  gene symbol: PSMD3
  hgvsc: ENST00000540504.2:c.54C>A
  hgvsp: ENSP00000444980.2:p.Leu19Ile
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.85C>A
  hgvsp: ENSP00000442508.1:p.Leu29Ile
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.499C>A
  hgvsp: ENSP00000264639.4:p.Leu167Ile
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.234C>A
  hgvsp: ENST00000415039.3:c.234C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9560
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3863
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2531
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1846
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19287
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2726
  bin: 8.75e1
  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: 1766
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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: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3852
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1608
  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: 799
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4332
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51054
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genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu167Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-38142920-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38142920
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38142920
    reference: chr 17
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.239A>G
  hgvsp: ENSP00000407410.3:p.Asn80Ser
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.90A>G
  hgvsp: ENST00000541736.1:c.90A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.504A>G
  hgvsp: ENST00000264639.4:c.504A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000444980
  ensembl transcript: ENST00000540504
  gene symbol: PSMD3
  hgvsc: ENST00000540504.2:c.59A>G
  hgvsp: ENST00000540504.2:c.59A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9560
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2532
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3863
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19287
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2913
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2726
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2480
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3625
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3852
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3068
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1846
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3721
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 950
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4341
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1609
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asn80Ser
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

17-38142923-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38142923
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38142923
    reference: chr 17
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.93C>T
  hgvsp: ENST00000541736.1:c.93C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.242C>T
  hgvsp: ENSP00000407410.3:p.Ser81Phe
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000444980
  ensembl transcript: ENST00000540504
  gene symbol: PSMD3
  hgvsc: ENST00000540504.2:c.62C>T
  hgvsp: ENST00000540504.2:c.62C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.507C>T
  hgvsp: ENST00000264639.4:c.507C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9560
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2914
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2480
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3852
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3863
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3722
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19286
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1846
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3625
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2726
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2532
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4341
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1609
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 950
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51054
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser81Phe
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

17-38142927-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38142927
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38142927
    reference: chr 17
allele count: 3
allele frequency: 2.471169686985173e-5
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.246G>A
  hgvsp: ENST00000415039.3:c.246G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.97G>A
  hgvsp: ENSP00000442508.1:p.Val33Met
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.511G>A
  hgvsp: ENSP00000264639.4:p.Val171Met
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000444980
  ensembl transcript: ENST00000540504
  gene symbol: PSMD3
  hgvsc: ENST00000540504.2:c.66G>A
  hgvsp: ENSP00000444980.2:p.Val23Met
  variant of: http://identifiers.org/hgnc/9560
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3863
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3066
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1846
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19286
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2480
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3287
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3852
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2532
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2726
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3722
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3625
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
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genotype quality: GenotypeQuality
  all individuals: 9
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51056
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  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1611
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 5
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val171Met
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum

17-38142931-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38142931
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38142931
    reference: chr 17
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.101T>C
  hgvsp: ENSP00000442508.1:p.Val34Ala
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000444980
  ensembl transcript: ENST00000540504
  gene symbol: PSMD3
  hgvsc: ENST00000540504.2:c.70T>C
  hgvsp: ENSP00000444980.2:p.Val24Ala
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.250T>C
  hgvsp: ENSP00000407410.3:p.Ser84Pro
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.515T>C
  hgvsp: ENSP00000264639.4:p.Val172Ala
  variant of: http://identifiers.org/hgnc/9560
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2532
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3852
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2913
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3063
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2480
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3863
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2726
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3722
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3625
  bin: 7.75e1
  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: 1846
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3288
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3106
  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 19285
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  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 950
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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
  all individuals: 3
  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: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4329
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51056
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1611
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val172Ala
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP

17-38142932-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38142932
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38142932
    reference: chr 17
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.102C>T
  hgvsp: ENST00000541736.1:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.516C>T
  hgvsp: ENST00000264639.4:c.516C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.251C>T
  hgvsp: ENSP00000407410.3:p.Ser84Leu
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000444980
  ensembl transcript: ENST00000540504
  gene symbol: PSMD3
  hgvsc: ENST00000540504.2:c.71C>T
  hgvsp: ENST00000540504.2:c.71C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9560
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1846
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3625
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3288
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2532
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2726
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3852
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3064
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3722
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2480
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19285
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3863
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 950
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4332
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51056
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1611
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser84Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD

17-38142933-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38142933
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38142933
    reference: chr 17
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.103A>G
  hgvsp: ENSP00000442508.1:p.Ile35Val
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000444980
  ensembl transcript: ENST00000540504
  gene symbol: PSMD3
  hgvsc: ENST00000540504.2:c.72A>G
  hgvsp: ENSP00000444980.2:p.Ile25Val
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.252A>G
  hgvsp: ENST00000415039.3:c.252A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.517A>G
  hgvsp: ENSP00000264639.4:p.Ile173Val
  variant of: http://identifiers.org/hgnc/9560
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3064
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1846
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3852
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3288
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2911
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3721
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2726
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3625
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19285
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2533
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2480
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3863
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 950
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4328
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51056
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1610
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile173Val
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: A
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-38142947-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38142947
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38142947
    reference: chr 17
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108344
  ensembl transcript: ENST00000580980
  gene symbol: PSMD3
  hgvsc: ENST00000580980.1:n.11C>T
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.117C>T
  hgvsp: ENST00000541736.1:c.117C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000444980
  ensembl transcript: ENST00000540504
  gene symbol: PSMD3
  hgvsc: ENST00000540504.2:c.86C>T
  hgvsp: ENST00000540504.2:c.86C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.*5C>T
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.531C>T
  hgvsp: ENST00000264639.4:c.531C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9560
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3863
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2726
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2480
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3722
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3288
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3625
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3853
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2533
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19284
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2904
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1846
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1607
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 946
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51056
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Asn177Asn
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

17-38142952-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38142952
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38142952
    reference: chr 17
allele count: 2
allele frequency: 1.647527884409444e-5
allele num: 121394
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000444980
  ensembl transcript: ENST00000540504
  gene symbol: PSMD3
  hgvsc: ENST00000540504.2:c.91A>G
  hgvsp: ENSP00000444980.2:p.Lys31Arg
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.536A>G
  hgvsp: ENSP00000264639.4:p.Lys179Arg
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.122A>G
  hgvsp: ENSP00000442508.1:p.Lys41Arg
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108344
  ensembl transcript: ENST00000580980
  gene symbol: PSMD3
  hgvsc: ENST00000580980.1:n.16A>G
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.*10A>G
  variant of: http://identifiers.org/hgnc/9560
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2480
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2726
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3625
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3289
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2895
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3025
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3863
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3853
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3721
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2533
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19283
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3106
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4271
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1603
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Lys179Arg
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: A
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

17-38142954-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38142954
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38142954
    reference: chr 17
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.*12C>G
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.124C>G
  hgvsp: ENSP00000442508.1:p.Arg42Gly
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000444980
  ensembl transcript: ENST00000540504
  gene symbol: PSMD3
  hgvsc: ENST00000540504.2:c.93C>G
  hgvsp: ENSP00000444980.2:p.Arg32Gly
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.538C>G
  hgvsp: ENSP00000264639.4:p.Arg180Gly
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108344
  ensembl transcript: ENST00000580980
  gene symbol: PSMD3
  hgvsc: ENST00000580980.1:n.18C>G
  variant of: http://identifiers.org/hgnc/9560
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2533
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2726
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3864
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3721
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3626
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3854
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19281
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2893
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3289
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2480
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 946
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1597
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg180Gly
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: African
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS

17-38142954-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38142954
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38142954
    reference: chr 17
allele count: 6
allele frequency: 4.942583653228331e-5
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000444980
  ensembl transcript: ENST00000540504
  gene symbol: PSMD3
  hgvsc: ENST00000540504.2:c.93C>T
  hgvsp: ENSP00000444980.2:p.Arg32Cys
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.124C>T
  hgvsp: ENSP00000442508.1:p.Arg42Cys
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108344
  ensembl transcript: ENST00000580980
  gene symbol: PSMD3
  hgvsc: ENST00000580980.1:n.18C>T
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.*12C>T
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.538C>T
  hgvsp: ENSP00000264639.4:p.Arg180Cys
  variant of: http://identifiers.org/hgnc/9560
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19281
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3721
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3864
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3854
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2893
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2533
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2726
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3289
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3626
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2480
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51057
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4273
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg180Cys
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
reference allele: C
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

17-38142955-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38142955
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38142955
    reference: chr 17
allele count: 16
allele frequency: 1.318022307527555e-4
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.*13G>A
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.125G>A
  hgvsp: ENSP00000442508.1:p.Arg42His
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000444980
  ensembl transcript: ENST00000540504
  gene symbol: PSMD3
  hgvsc: ENST00000540504.2:c.94G>A
  hgvsp: ENSP00000444980.2:p.Arg32His
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.539G>A
  hgvsp: ENSP00000264639.4:p.Arg180His
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108344
  ensembl transcript: ENST00000580980
  gene symbol: PSMD3
  hgvsc: ENST00000580980.1:n.19G>A
  variant of: http://identifiers.org/hgnc/9560
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2535
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3864
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3626
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3288
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3853
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3721
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3025
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19278
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2726
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51058
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 946
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4272
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg180His
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum

17-38142962-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38142962
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38142962
    reference: chr 17
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108344
  ensembl transcript: ENST00000580980
  gene symbol: PSMD3
  hgvsc: ENST00000580980.1:n.26A>G
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000444980
  ensembl transcript: ENST00000540504
  gene symbol: PSMD3
  hgvsc: ENST00000540504.2:c.101A>G
  hgvsp: ENST00000540504.2:c.101A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.546A>G
  hgvsp: ENST00000264639.4:c.546A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.132A>G
  hgvsp: ENST00000541736.1:c.132A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.*20A>G
  variant of: http://identifiers.org/hgnc/9560
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3856
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3721
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2535
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3866
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3014
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19268
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3627
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2726
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3288
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2482
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4245
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Lys182Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: African
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ

17-38142967-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38142967
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38142967
    reference: chr 17
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000444980
  ensembl transcript: ENST00000540504
  gene symbol: PSMD3
  hgvsc: ENST00000540504.2:c.104+2T>C
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.549+2T>C
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.*23+2T>C
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000108344
  ensembl transcript: ENST00000580980
  gene symbol: PSMD3
  hgvsc: ENST00000580980.1:n.29+2T>C
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.135+2T>C
  variant of: http://identifiers.org/hgnc/9560
canonical: true
consequence: splice donor
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3722
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3626
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3866
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3289
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2894
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2726
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3013
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3856
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2482
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2535
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19267
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 941
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1589
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51056
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
hgvs: c.549+2T>C
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/17-38142972-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38142972
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38142972
    reference: chr 17
allele count: 12
allele frequency: 9.886470365305081e-5
allele num: 121378
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.135+7A>C
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.*23+7A>C
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.549+7A>C
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000444980
  ensembl transcript: ENST00000540504
  gene symbol: PSMD3
  hgvsc: ENST00000540504.2:c.104+7A>C
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl transcript: ENST00000580980
  gene symbol: PSMD3
  hgvsc: ENST00000580980.1:n.29+7A>C
  variant of: http://identifiers.org/hgnc/9560
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2994
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2535
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3289
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3723
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3626
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2482
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3855
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2894
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2727
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19266
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 3866
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1738
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4221
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51058
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1582
  bin: 6.75e1
  variant carriers: 0
hgvs: c.549+7A>C
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: East Asian
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

17-38142978-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38142978
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38142978
    reference: chr 17
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.549+13C>G
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000444980
  ensembl transcript: ENST00000540504
  gene symbol: PSMD3
  hgvsc: ENST00000540504.2:c.104+13C>G
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl transcript: ENST00000580980
  gene symbol: PSMD3
  hgvsc: ENST00000580980.1:n.29+13C>G
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.*23+13C>G
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.135+13C>G
  variant of: http://identifiers.org/hgnc/9560
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3971
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2496
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3457
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2697
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3942
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18965
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3712
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2577
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2830
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3849
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3564
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP

17-38142978-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38142978
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38142978
    reference: chr 17
allele count: 17910
allele frequency: 1.475798876052671e-1
allele num: 121358
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.*23+13C>T
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.135+13C>T
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.549+13C>T
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000444980
  ensembl transcript: ENST00000540504
  gene symbol: PSMD3
  hgvsc: ENST00000540504.2:c.104+13C>T
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl transcript: ENST00000580980
  gene symbol: PSMD3
  hgvsc: ENST00000580980.1:n.29+13C>T
  variant of: http://identifiers.org/hgnc/9560
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 8.25e1
  variant carriers: 488
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 4.75e1
  variant carriers: 326
genotype depth: GenotypeDepth
  all individuals: 2496
  bin: 2.75e1
  variant carriers: 116
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 2.25e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 3942
  bin: 7.25e1
  variant carriers: 294
genotype depth: GenotypeDepth
  all individuals: 18965
  bin: 9.75e1
  variant carriers: 11083
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3971
  bin: 6.75e1
  variant carriers: 299
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 2830
  bin: 8.75e1
  variant carriers: 609
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 3.25e1
  variant carriers: 178
genotype depth: GenotypeDepth
  all individuals: 3457
  bin: 5.75e1
  variant carriers: 347
genotype depth: GenotypeDepth
  all individuals: 2697
  bin: 5.25e1
  variant carriers: 334
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 3.75e1
  variant carriers: 285
genotype depth: GenotypeDepth
  all individuals: 3849
  bin: 6.25e1
  variant carriers: 273
genotype depth: GenotypeDepth
  all individuals: 2577
  bin: 9.25e1
  variant carriers: 745
genotype depth: GenotypeDepth
  all individuals: 3712
  bin: 7.75e1
  variant carriers: 390
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 4.25e1
  variant carriers: 331
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 8.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 7.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 9.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3564
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 1
num of homozygotes: 1727
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP

17-38142979-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38142979
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38142979
    reference: chr 17
allele count: 15
allele frequency: 1.236053199729716e-4
allele num: 121354
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl transcript: ENST00000580980
  gene symbol: PSMD3
  hgvsc: ENST00000580980.1:n.29+14A>G
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000444980
  ensembl transcript: ENST00000540504
  gene symbol: PSMD3
  hgvsc: ENST00000540504.2:c.104+14A>G
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.549+14A>G
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.*23+14A>G
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.135+14A>G
  variant of: http://identifiers.org/hgnc/9560
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3460
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2606
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4999
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4826
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3573
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4359
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3127
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4415
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10690
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2939
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2458
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4971
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1716
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4478
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP

17-38142980-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38142980
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38142980
    reference: chr 17
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.549+15G>C
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl transcript: ENST00000580980
  gene symbol: PSMD3
  hgvsc: ENST00000580980.1:n.29+15G>C
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.*23+15G>C
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.135+15G>C
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000444980
  ensembl transcript: ENST00000540504
  gene symbol: PSMD3
  hgvsc: ENST00000540504.2:c.104+15G>C
  variant of: http://identifiers.org/hgnc/9560
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3133
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4359
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4999
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2609
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4826
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10682
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4970
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3575
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4416
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2459
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2941
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4501
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1077
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49863
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 950
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD

17-38142987-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38142987
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38142987
    reference: chr 17
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl transcript: ENST00000580980
  gene symbol: PSMD3
  hgvsc: ENST00000580980.1:n.29+22C>T
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.549+22C>T
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.*23+22C>T
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.135+22C>T
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000444980
  ensembl transcript: ENST00000540504
  gene symbol: PSMD3
  hgvsc: ENST00000540504.2:c.104+22C>T
  variant of: http://identifiers.org/hgnc/9560
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4416
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2941
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2560
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10682
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2459
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4826
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4359
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2132
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4969
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4999
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3575
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49861
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1060
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1682
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 738
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

17-38142988-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38142988
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38142988
    reference: chr 17
allele count: 4
allele frequency: 3.29663084327817e-5
allele num: 121336
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.*23+23G>A
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000444980
  ensembl transcript: ENST00000540504
  gene symbol: PSMD3
  hgvsc: ENST00000540504.2:c.104+23G>A
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.135+23G>A
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.549+23G>A
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl transcript: ENST00000580980
  gene symbol: PSMD3
  hgvsc: ENST00000580980.1:n.29+23G>A
  variant of: http://identifiers.org/hgnc/9560
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3034
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4359
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2106
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3575
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10682
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2941
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4826
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4970
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4416
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2577
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2459
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3459
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4998
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49859
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4347
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

17-38142995-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38142995
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38142995
    reference: chr 17
allele count: 1
allele frequency: 8.242256400112095e-6
allele num: 121326
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000444980
  ensembl transcript: ENST00000540504
  gene symbol: PSMD3
  hgvsc: ENST00000540504.2:c.104+30A>G
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl transcript: ENST00000580980
  gene symbol: PSMD3
  hgvsc: ENST00000580980.1:n.29+30A>G
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.*23+30A>G
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.549+30A>G
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.135+30A>G
  variant of: http://identifiers.org/hgnc/9560
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2941
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2924
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3458
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4416
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4826
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2058
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2506
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4999
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2458
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3575
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4970
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10681
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4359
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49859
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4156
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/17-38142998-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38142998
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38142998
    reference: chr 17
allele count: 190
allele frequency: 1.56618362266515e-3
allele num: 121314
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl transcript: ENST00000580980
  gene symbol: PSMD3
  hgvsc: ENST00000580980.1:n.29+33C>A
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.135+33C>A
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000444980
  ensembl transcript: ENST00000540504
  gene symbol: PSMD3
  hgvsc: ENST00000540504.2:c.104+33C>A
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.*23+33C>A
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.549+33C>A
  variant of: http://identifiers.org/hgnc/9560
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3573
  bin: 8.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2460
  bin: 9.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 10670
  bin: 9.75e1
  variant carriers: 100
genotype depth: GenotypeDepth
  all individuals: 4361
  bin: 7.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2451
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2443
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4415
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2851
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2947
  bin: 8.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 4826
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3460
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4974
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4999
  bin: 6.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1615
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49866
  bin: 9.75e1
  variant carriers: 188
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3997
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 930
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 2
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

17-38144887-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38144887
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38144887
    reference: chr 17
allele count: 1
allele frequency: 9.012581563863154e-6
allele num: 110956
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.136-49T>C
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000444980
  ensembl transcript: ENST00000540504
  gene symbol: PSMD3
  hgvsc: ENST00000540504.2:c.105-49T>C
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.*24-49T>C
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.550-49T>C
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl transcript: ENST00000580980
  gene symbol: PSMD3
  hgvsc: ENST00000580980.1:n.30-49T>C
  variant of: http://identifiers.org/hgnc/9560
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15426
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16608
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2121
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4695
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12436
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5425
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3731
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3213
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1422
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8877
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7281
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3906
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1135
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1746
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6805
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

17-38144909-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38144909
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38144909
    reference: chr 17
allele count: 1
allele frequency: 8.801887124599515e-6
allele num: 113612
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.550-27T>G
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl transcript: ENST00000580980
  gene symbol: PSMD3
  hgvsc: ENST00000580980.1:n.30-27T>G
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.136-27T>G
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.*24-27T>G
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000444980
  ensembl transcript: ENST00000540504
  gene symbol: PSMD3
  hgvsc: ENST00000540504.2:c.105-27T>G
  variant of: http://identifiers.org/hgnc/9560
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32600
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8551
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3768
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2012
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3255
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6667
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4190
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29452
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1825
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2981
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1659
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2198
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3384
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2094
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

17-38144927-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38144927
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38144927
    reference: chr 17
allele count: 1
allele frequency: 8.462384700008463e-6
allele num: 118170
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.*24-9C>T
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.550-9C>T
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl transcript: ENST00000580980
  gene symbol: PSMD3
  hgvsc: ENST00000580980.1:n.30-9C>T
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.136-9C>T
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000444980
  ensembl transcript: ENST00000540504
  gene symbol: PSMD3
  hgvsc: ENST00000540504.2:c.105-9C>T
  variant of: http://identifiers.org/hgnc/9560
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10683
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4464
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37969
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1754
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3312
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2173
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35571
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2622
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7024
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 974
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-38144944-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38144944
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38144944
    reference: chr 17
allele count: 1
allele frequency: 8.302751531857658e-6
allele num: 120442
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000442508
  ensembl transcript: ENST00000541736
  gene symbol: PSMD3
  hgvsc: ENST00000541736.1:c.144G>A
  hgvsp: ENST00000541736.1:c.144G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000444980
  ensembl transcript: ENST00000540504
  gene symbol: PSMD3
  hgvsc: ENST00000540504.2:c.113G>A
  hgvsp: ENST00000540504.2:c.113G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108344
  ensembl transcript: ENST00000580980
  gene symbol: PSMD3
  hgvsc: ENST00000580980.1:n.38G>A
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000264639
  ensembl transcript: ENST00000264639
  gene symbol: PSMD3
  hgvsc: ENST00000264639.4:c.558G>A
  hgvsp: ENST00000264639.4:c.558G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9560
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108344
  ensembl protein: ENSP00000407410
  ensembl transcript: ENST00000415039
  gene symbol: PSMD3
  hgvsc: ENST00000415039.3:c.*32G>A
  variant of: http://identifiers.org/hgnc/9560
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5379
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38099
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11883
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3781
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1146
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7589
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Lys186Lys
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
reference allele: G

GenotypeQuality
all individuals: 4863
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
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: 8654
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -4.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.954e1

FS
type: SiteQuality
SIO_000300: 1.333e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.4e0

VQSLOD
type: SiteQuality
SIO_000300: 1.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.924e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.29e0

QD
type: SiteQuality
SIO_000300: 1.266e1

DP
type: SiteQuality
SIO_000300: 2.156291e6

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
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: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.69e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.74e-1

MQ
type: SiteQuality
SIO_000300: 5.809e1

VQSLOD
type: SiteQuality
SIO_000300: -1.906e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.65e-1

QD
type: SiteQuality
SIO_000300: 4.02e0

DP
type: SiteQuality
SIO_000300: 2.156215e6

GenotypeQuality
all individuals: 5391
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 17
allele frequency: 1.468301951977889e-3
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.798507238991637e-4
allele num: 66722
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 309
allele frequency: 2.969440707284259e-2
allele num: 10406
num of homozygotes: 2

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

VQSLOD
type: SiteQuality
SIO_000300: 3.4e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.800000000000001e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.47e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.65e-1

MQ
type: SiteQuality
SIO_000300: 5.917e1

DP
type: SiteQuality
SIO_000300: 2.178093e6

QD
type: SiteQuality
SIO_000300: 1.5e1

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.156267e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.42e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.06e0

FS
type: SiteQuality
SIO_000300: 3.711e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -8.706e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.0e-1

QD
type: SiteQuality
SIO_000300: 1.183e1

MQ
type: SiteQuality
SIO_000300: 5.877e1

GenotypeQuality
all individuals: 3393
bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66716
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.207e1

VQSLOD
type: SiteQuality
SIO_000300: -1.073e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.33e-1

FS
type: SiteQuality
SIO_000300: 6.103e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.74e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.37e-1

MQ
type: SiteQuality
SIO_000300: 5.869e1

DP
type: SiteQuality
SIO_000300: 2.156274e6

GenotypeQuality
all individuals: 17279
bin: 9.75e1
variant carriers: 1

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

QD
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
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FS
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VQSLOD
type: SiteQuality
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MQ
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e0

MQRankSum
type: SiteQuality
SIO_000300: 4.0e-1

DP
type: SiteQuality
SIO_000300: 2.156057e6

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

Other
type: Population
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allele frequency: 0.0e0
allele num: 904
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
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African
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allele frequency: 0.0e0
allele num: 10406
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South Asian
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allele count: 11
allele frequency: 6.677999028654686e-4
allele num: 16472
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66670
num of homozygotes: 0

QD
type: SiteQuality
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FS
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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MQ
type: SiteQuality
SIO_000300: 5.961e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.9e-2

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.983e0

DP
type: SiteQuality
SIO_000300: 2.155107e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16434
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.500420117632937e-5
allele num: 66648
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
allele num: 10406
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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MQRankSum
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DP
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
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QD
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MQ
type: SiteQuality
SIO_000300: 5.919e1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
allele num: 904
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16374
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Latino
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allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.50105073551486e-5
allele num: 66620
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
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FS
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.14e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e-1

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.97e-1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.004356316659156e-5
allele num: 66570
num of homozygotes: 0

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

South Asian
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Other
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BaseQRankSum
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VQSLOD
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.993e1

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.61e0

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.42e0

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.502945773716484e-5
allele num: 66536
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

MQ
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.4e-1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.147548e6

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.549e0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

South Asian
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allele frequency: 6.19041723412158e-5
allele num: 16154
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66520
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 902
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Latino
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allele frequency: 0.0e0
allele num: 11574
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
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MQ
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.71e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

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

East Asian
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allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.144295e6

InbreedingCoeff
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FS
type: SiteQuality
SIO_000300: 9.11e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.165e-1

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.506069459923492e-5
allele num: 66398
num of homozygotes: 0

Latino
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num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.9e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -2.0e-3

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.971e1

GenotypeQuality
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variant carriers: 0

South Asian
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allele frequency: 0.0e0
allele num: 15574
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.509661835748792e-5
allele num: 66240
num of homozygotes: 0

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

MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.7e-2

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
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FS
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 9.62e-1

VQSLOD
type: SiteQuality
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ClippingRankSum
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

African
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num of homozygotes: 0

East Asian
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South Asian
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num of homozygotes: 0

Other
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Latino
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allele frequency: 8.647526807333103e-5
allele num: 11564
num of homozygotes: 0

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

QD
type: SiteQuality
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InbreedingCoeff
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FS
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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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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

East Asian
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num of homozygotes: 0

Latino
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African
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European (Finnish)
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European (Non-Finnish)
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num of homozygotes: 0

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

Latino
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num of homozygotes: 0

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

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

East Asian
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South Asian
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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FS
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MQ
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VQSLOD
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DP
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QD
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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allele count: 1
allele frequency: 1.133786848072562e-3
allele num: 882
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 15048
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
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SIO_000300: 1.349e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.25e-1

QD
type: SiteQuality
SIO_000300: 1.132e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.096877e6

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15002
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.515656734062869e-5
allele num: 65978
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
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MQ
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VQSLOD
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InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

MQRankSum
type: SiteQuality
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FS
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SIO_000300: 2.095e0

QD
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ReadPosRankSum
type: SiteQuality
SIO_000300: -3.5e-1

BaseQRankSum
type: SiteQuality
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DP
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SIO_000300: 2.093397e6

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13956
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.525785779676533e-5
allele num: 65540
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 862
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.054e0

MQRankSum
type: SiteQuality
SIO_000300: -3.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.19e-1

DP
type: SiteQuality
SIO_000300: 2.059778e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.81e-1

QD
type: SiteQuality
SIO_000300: 1.338e1

MQ
type: SiteQuality
SIO_000300: 5.95e1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.580712148048617e-5
allele num: 65492
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13902
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.84e-1

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.059784e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.39e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 5.956e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

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

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16382
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10400
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.129e0

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.89e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.93e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.1e0

DP
type: SiteQuality
SIO_000300: 5.023781e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.47e-1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

South Asian
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allele count: 5
allele frequency: 3.045808966861598e-4
allele num: 16416
num of homozygotes: 0

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10402
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66626
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.56e-1

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 5.025221e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.333e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.531e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.14e-2

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
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East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66648
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South Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.214e1

VQSLOD
type: SiteQuality
SIO_000300: -6.497000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

DP
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SIO_000300: 5.03269e6

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.048e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.2e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.938e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 7.48e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

Latino
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allele count: 2
allele frequency: 1.727414061150458e-4
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66696
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.372e1

VQSLOD
type: SiteQuality
SIO_000300: 9.360000000000001e-1

DP
type: SiteQuality
SIO_000300: 5.037419e6

FS
type: SiteQuality
SIO_000300: 1.018e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.11e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.64e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

African
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allele frequency: 9.611687812379854e-5
allele num: 10404
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.34e-1

FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.993e1

MQRankSum
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

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

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

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

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

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

FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 5.037783e6

VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.974e1

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 6.68e-1

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.11e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

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

South Asian
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MQ
type: SiteQuality
SIO_000300: 5.972e1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 9.98e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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Latino
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allele num: 11578
num of homozygotes: 0

East Asian
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African
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

South Asian
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

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

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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African
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South Asian
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allele frequency: 1.211240310077519e-4
allele num: 16512
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Latino
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num of homozygotes: 0

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

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.785e0

FS
type: SiteQuality
SIO_000300: 1.39e0

DP
type: SiteQuality
SIO_000300: 5.037491e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.987e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.82e-1

QD
type: SiteQuality
SIO_000300: 1.816e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.4e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.87e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.3e-2

GenotypeQuality
all individuals: 798
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.277e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.726e0

DP
type: SiteQuality
SIO_000300: 5.037442e6

VQSLOD
type: SiteQuality
SIO_000300: 3.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.3e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.102e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

QD
type: SiteQuality
SIO_000300: 1.448e1

GenotypeQuality
all individuals: 51067
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 780
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 956
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 8.75e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
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: 16512
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.62e-1

QD
type: SiteQuality
SIO_000300: 1.356e1

MQRankSum
type: SiteQuality
SIO_000300: 1.67e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.313e0

FS
type: SiteQuality
SIO_000300: 1.112e0

VQSLOD
type: SiteQuality
SIO_000300: -1.975e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 5.037449e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.37e0

GenotypeQuality
all individuals: 413
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 780
bin: 9.25e1
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GenotypeQuality
all individuals: 4
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GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.974e1

MQRankSum
type: SiteQuality
SIO_000300: 1.67e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.975e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.37e0

QD
type: SiteQuality
SIO_000300: 1.356e1

FS
type: SiteQuality
SIO_000300: 1.112e0

DP
type: SiteQuality
SIO_000300: 5.037449e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.313e0

GenotypeQuality
all individuals: 797
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 413
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variant carriers: 0

GenotypeQuality
all individuals: 4336
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 780
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.052e1

MQ
type: SiteQuality
SIO_000300: 5.947e1

VQSLOD
type: SiteQuality
SIO_000300: 4.32e-1

FS
type: SiteQuality
SIO_000300: 1.749e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 5.037177e6

MQRankSum
type: SiteQuality
SIO_000300: 2.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 8.070000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.15e-1

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

GenotypeQuality
all individuals: 953
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variant carriers: 0

GenotypeQuality
all individuals: 1601
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variant carriers: 0

GenotypeQuality
all individuals: 4324
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 27
allele frequency: 1.635174418604651e-3
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 214
allele frequency: 3.206472879832185e-3
allele num: 66740
num of homozygotes: 1

African
type: Population
allele count: 10
allele frequency: 9.609840476648087e-4
allele num: 10406
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.202643171806168e-3
allele num: 908
num of homozygotes: 0

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

Latino
type: Population
allele count: 10
allele frequency: 8.637070305752289e-4
allele num: 11578
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 6
allele frequency: 9.071666162685213e-4
allele num: 6614
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.53e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.48e-1

QD
type: SiteQuality
SIO_000300: 1.386e1

DP
type: SiteQuality
SIO_000300: 5.045267e6

MQ
type: SiteQuality
SIO_000300: 5.968e1

FS
type: SiteQuality
SIO_000300: 5.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.54e0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 957
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4332
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 717
bin: 7.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -5.18e-1

FS
type: SiteQuality
SIO_000300: 9.352e0

MQ
type: SiteQuality
SIO_000300: 5.868e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.6e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.196e0

MQRankSum
type: SiteQuality
SIO_000300: 2.03e-1

QD
type: SiteQuality
SIO_000300: 1.15e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 5.024025e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.37e-1

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

GenotypeQuality
all individuals: 416
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 776
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4336
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 4.91e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.238e0

QD
type: SiteQuality
SIO_000300: 1.321e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.44e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.402e0

FS
type: SiteQuality
SIO_000300: 1.0348e1

MQ
type: SiteQuality
SIO_000300: 5.949e1

DP
type: SiteQuality
SIO_000300: 5.023853e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.146e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 799
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

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: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

FS
type: SiteQuality
SIO_000300: 5.27e-1

DP
type: SiteQuality
SIO_000300: 5.023756e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.147e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.52e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.274e0

QD
type: SiteQuality
SIO_000300: 1.48e1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 775
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51077
bin: 9.75e1
variant carriers: 11

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.182242183451373e-4
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

East Asian
type: Population
allele count: 5
allele frequency: 5.779010633379565e-4
allele num: 8652
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 5.023693e6

VQSLOD
type: SiteQuality
SIO_000300: 3.47e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.52e-1

FS
type: SiteQuality
SIO_000300: 1.104e0

MQRankSum
type: SiteQuality
SIO_000300: 3.34e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

QD
type: SiteQuality
SIO_000300: 1.231e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.39e-1

GenotypeQuality
all individuals: 957
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51075
bin: 9.75e1
variant carriers: 7

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

GenotypeQuality
all individuals: 714
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 8.990919171636647e-5
allele num: 66734
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.34e-1

MQ
type: SiteQuality
SIO_000300: 5.984e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.89e-1

QD
type: SiteQuality
SIO_000300: 1.359e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.830000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.18e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e-1

DP
type: SiteQuality
SIO_000300: 5.022549e6

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1606
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variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.64e0

MQ
type: SiteQuality
SIO_000300: 5.985e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.308e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.9e-1

DP
type: SiteQuality
SIO_000300: 5.021996e6

FS
type: SiteQuality
SIO_000300: 1.739e0

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51076
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1610
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 776
bin: 9.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.996883241428914e-5
allele num: 66736
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.464e0

DP
type: SiteQuality
SIO_000300: 5.021663e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.85e-1

FS
type: SiteQuality
SIO_000300: 2.45e0

MQRankSum
type: SiteQuality
SIO_000300: -6.39e-1

QD
type: SiteQuality
SIO_000300: 1.424e1

MQ
type: SiteQuality
SIO_000300: 5.954e1

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

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

GenotypeQuality
all individuals: 715
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51075
bin: 9.75e1
variant carriers: 1

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 7.332e0

VQSLOD
type: SiteQuality
SIO_000300: 3.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.068e0

MQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.76e0

DP
type: SiteQuality
SIO_000300: 5.021395e6

QD
type: SiteQuality
SIO_000300: 1.201e1

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

GenotypeQuality
all individuals: 409
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 777
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 297
allele frequency: 2.854122621564482e-2
allele num: 10406
num of homozygotes: 4

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

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

Other
type: Population
allele count: 2
allele frequency: 2.202643171806168e-3
allele num: 908
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.048940570024275e-4
allele num: 66734
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.92e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.08e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.22e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.907e0

DP
type: SiteQuality
SIO_000300: 5.027803e6

MQ
type: SiteQuality
SIO_000300: 5.976e1

QD
type: SiteQuality
SIO_000300: 1.346e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

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

GenotypeQuality
all individuals: 6
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4349
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 799
bin: 8.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.203e0

MQRankSum
type: SiteQuality
SIO_000300: -2.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.54e1

QD
type: SiteQuality
SIO_000300: 1.224e1

VQSLOD
type: SiteQuality
SIO_000300: -8.225e-1

FS
type: SiteQuality
SIO_000300: 4.388e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.38e-1

DP
type: SiteQuality
SIO_000300: 4.997311e6

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 717
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 7.7e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.829e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.7e-2

DP
type: SiteQuality
SIO_000300: 4.997182e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.548e1

FS
type: SiteQuality
SIO_000300: 2.84e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.231e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.639e0

GenotypeQuality
all individuals: 781
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 51054
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 799
bin: 8.25e1
variant carriers: 0

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

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

VQSLOD
type: SiteQuality
SIO_000300: 1.9e0

DP
type: SiteQuality
SIO_000300: 4.997124e6

QD
type: SiteQuality
SIO_000300: 1.383e1

MQ
type: SiteQuality
SIO_000300: 5.968e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.33e0

FS
type: SiteQuality
SIO_000300: 1.815e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 7.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.247e0

GenotypeQuality
all individuals: 799
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 714
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

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

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.975e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.879e0

FS
type: SiteQuality
SIO_000300: 1.95e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

VQSLOD
type: SiteQuality
SIO_000300: -8.200000000000001e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -9.389999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.93e0

QD
type: SiteQuality
SIO_000300: 1.196e1

DP
type: SiteQuality
SIO_000300: 4.996998e6

GenotypeQuality
all individuals: 949
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 715
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 414
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variant carriers: 0

GenotypeQuality
all individuals: 780
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

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

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

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.69e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.47e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.07e-1

FS
type: SiteQuality
SIO_000300: 1.119e0

MQRankSum
type: SiteQuality
SIO_000300: -5.9e-2

DP
type: SiteQuality
SIO_000300: 4.997045e6

QD
type: SiteQuality
SIO_000300: 1.257e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.4e-1

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

GenotypeQuality
all individuals: 413
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 780
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variant carriers: 0

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

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

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

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

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

European (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: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.314e1

FS
type: SiteQuality
SIO_000300: 1.117e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.2e0

MQRankSum
type: SiteQuality
SIO_000300: -7.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.99e-1

MQ
type: SiteQuality
SIO_000300: 5.985e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e-1

DP
type: SiteQuality
SIO_000300: 4.996906e6

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.176e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.91e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.358e0

FS
type: SiteQuality
SIO_000300: 5.993e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 4.996814e6

MQRankSum
type: SiteQuality
SIO_000300: 1.43e0

MQ
type: SiteQuality
SIO_000300: 5.984e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.777e0

VQSLOD
type: SiteQuality
SIO_000300: -1.196e0

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

GenotypeQuality
all individuals: 780
bin: 9.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 4.99676e6

MQ
type: SiteQuality
SIO_000300: 5.905e1

VQSLOD
type: SiteQuality
SIO_000300: -9.823e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.63e-1

QD
type: SiteQuality
SIO_000300: 1.654e1

MQRankSum
type: SiteQuality
SIO_000300: 3.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 3.833e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.32e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.9e0

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

GenotypeQuality
all individuals: 4309
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 715
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 780
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 8.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
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: -4.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 4.89e0

VQSLOD
type: SiteQuality
SIO_000300: 6.73e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

DP
type: SiteQuality
SIO_000300: 4.996436e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.18e-1

QD
type: SiteQuality
SIO_000300: 1.031e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e0

GenotypeQuality
all individuals: 16
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variant carriers: 0

GenotypeQuality
all individuals: 800
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 781
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 946
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variant carriers: 0

GenotypeQuality
all individuals: 712
bin: 7.25e1
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GenotypeQuality
all individuals: 51056
bin: 9.75e1
variant carriers: 2

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.965e1

DP
type: SiteQuality
SIO_000300: 4.996141e6

MQRankSum
type: SiteQuality
SIO_000300: 1.49e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e0

FS
type: SiteQuality
SIO_000300: 2.065e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.51e-1

QD
type: SiteQuality
SIO_000300: 1.415e1

VQSLOD
type: SiteQuality
SIO_000300: 2.05e-1

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51057
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4273
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.54e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

VQSLOD
type: SiteQuality
SIO_000300: 3.26e0

DP
type: SiteQuality
SIO_000300: 4.995957e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.97e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.215e1

FS
type: SiteQuality
SIO_000300: 2.072e0

GenotypeQuality
all individuals: 712
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 946
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 799
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1597
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.493555542233679e-5
allele num: 66724
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: 16512
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.215e1

MQ
type: SiteQuality
SIO_000300: 5.968e1

DP
type: SiteQuality
SIO_000300: 4.995957e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.97e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 2.072e0

MQRankSum
type: SiteQuality
SIO_000300: 3.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.54e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e-1

GenotypeQuality
all individuals: 1598
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 780
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 713
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 797
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 4
allele frequency: 3.843936190659235e-4
allele num: 10406
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.727414061150458e-4
allele num: 11578
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.498711108446736e-4
allele num: 66724
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: 16512
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 4.995513e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

MQ
type: SiteQuality
SIO_000300: 5.965e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.4e-2

QD
type: SiteQuality
SIO_000300: 1.279e1

VQSLOD
type: SiteQuality
SIO_000300: 3.01e0

FS
type: SiteQuality
SIO_000300: 1.277e0

MQRankSum
type: SiteQuality
SIO_000300: -3.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.273e0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 944
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51056
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 410
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1594
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

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

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.037e1

MQRankSum
type: SiteQuality
SIO_000300: 2.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.672e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.67e0

FS
type: SiteQuality
SIO_000300: 9.712e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.47e-1

DP
type: SiteQuality
SIO_000300: 4.994204e6

MQ
type: SiteQuality
SIO_000300: 5.966e1

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 712
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4247
bin: 6.25e1
variant carriers: 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: 10406
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66716
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -2.951e0

FS
type: SiteQuality
SIO_000300: 2.753e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.88e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.993939e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.63e-1

QD
type: SiteQuality
SIO_000300: 2.3e0

MQ
type: SiteQuality
SIO_000300: 5.988e1

GenotypeQuality
all individuals: 47
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 707
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 795
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 409
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variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.49902563333833e-4
allele num: 66710
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: 10406
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 1.491e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.6e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.86e-1

DP
type: SiteQuality
SIO_000300: 4.993497e6

MQRankSum
type: SiteQuality
SIO_000300: -1.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.676e0

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

QD
type: SiteQuality
SIO_000300: 1.629e1

GenotypeQuality
all individuals: 632
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 662
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52592
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 321
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1294
bin: 6.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66698
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.67e-2

MQ
type: SiteQuality
SIO_000300: 5.969e1

MQRankSum
type: SiteQuality
SIO_000300: 1.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.094e0

QD
type: SiteQuality
SIO_000300: 1.506e1

VQSLOD
type: SiteQuality
SIO_000300: 4.82e0

FS
type: SiteQuality
SIO_000300: 1.594e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.99e-1

DP
type: SiteQuality
SIO_000300: 4.989437e6

GenotypeQuality
all individuals: 52592
bin: 9.75e1
variant carriers: 16131

GenotypeQuality
all individuals: 1294
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 8.75e1
variant carriers: 4

GenotypeQuality
all individuals: 760
bin: 7.75e1
variant carriers: 6

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 1

African
type: Population
allele count: 3677
allele frequency: 3.534217608612072e-1
allele num: 10404
num of homozygotes: 658

East Asian
type: Population
allele count: 76
allele frequency: 8.788159111933395e-3
allele num: 8648
num of homozygotes: 1

Latino
type: Population
allele count: 959
allele frequency: 8.282950423216445e-2
allele num: 11578
num of homozygotes: 44

European (Finnish)
type: Population
allele count: 983
allele frequency: 1.486241306319927e-1
allele num: 6614
num of homozygotes: 74

Other
type: Population
allele count: 104
allele frequency: 1.145374449339207e-1
allele num: 908
num of homozygotes: 6

South Asian
type: Population
allele count: 1218
allele frequency: 7.378240852919797e-2
allele num: 16508
num of homozygotes: 52

European (Non-Finnish)
type: Population
allele count: 10893
allele frequency: 1.633182404269993e-1
allele num: 66698
num of homozygotes: 892

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.67e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.99e-1

FS
type: SiteQuality
SIO_000300: 1.594e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.094e0

MQRankSum
type: SiteQuality
SIO_000300: 1.22e-1

QD
type: SiteQuality
SIO_000300: 1.506e1

VQSLOD
type: SiteQuality
SIO_000300: 4.82e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.46e-1

DP
type: SiteQuality
SIO_000300: 4.989437e6

GenotypeQuality
all individuals: 756
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1076
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49867
bin: 9.75e1
variant carriers: 15

GenotypeQuality
all individuals: 84
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 950
bin: 8.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
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: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 14
allele frequency: 1.345895020188425e-3
allele num: 10402
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66690
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.623e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.08e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.54e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.33e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.73e-1

MQ
type: SiteQuality
SIO_000300: 5.944e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 2.525e0

MQRankSum
type: SiteQuality
SIO_000300: 4.53e-1

DP
type: SiteQuality
SIO_000300: 4.247466e6

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

GenotypeQuality
all individuals: 49
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1721
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 473
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66688
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.988e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.64e0

VQSLOD
type: SiteQuality
SIO_000300: -3.661e0

MQRankSum
type: SiteQuality
SIO_000300: 1.57e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.46e0

DP
type: SiteQuality
SIO_000300: 4.246821e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.978e0

FS
type: SiteQuality
SIO_000300: 4.263e0

QD
type: SiteQuality
SIO_000300: 3.175e1

GenotypeQuality
all individuals: 91
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 987
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 944
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4308
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 2.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66664
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.95e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.8e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.29e0

DP
type: SiteQuality
SIO_000300: 4.244756e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.911e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.35e-1

QD
type: SiteQuality
SIO_000300: 2.787e1

GenotypeQuality
all individuals: 1686
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1054
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 737
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 989
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499790029395885e-5
allele num: 66676
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 3
allele frequency: 1.817520901490367e-4
allele num: 16506
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.09e-1

QD
type: SiteQuality
SIO_000300: 1.286e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.56e-1

FS
type: SiteQuality
SIO_000300: 7.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 4.244079e6

MQRankSum
type: SiteQuality
SIO_000300: -3.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.757e0

MQ
type: SiteQuality
SIO_000300: 5.926e1

VQSLOD
type: SiteQuality
SIO_000300: 5.06e-1

GenotypeQuality
all individuals: 938
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1655
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 988
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66668
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.84e-1

FS
type: SiteQuality
SIO_000300: 2.931e0

QD
type: SiteQuality
SIO_000300: 1.165e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.31e0

DP
type: SiteQuality
SIO_000300: 4.241094e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.1e0

VQSLOD
type: SiteQuality
SIO_000300: 4.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.917e0

GenotypeQuality
all individuals: 1047
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 987
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
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: 179
allele frequency: 2.068885806749884e-2
allele num: 8652
num of homozygotes: 2

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66660
num of homozygotes: 0

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

South Asian
type: Population
allele count: 9
allele frequency: 5.454545454545455e-4
allele num: 16500
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.253e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.83e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.839e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

DP
type: SiteQuality
SIO_000300: 4.239459e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.34e0

MQRankSum
type: SiteQuality
SIO_000300: 2.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.28e-1

GenotypeQuality
all individuals: 4652
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6351
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4877
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 937
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3285
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5924
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.633453119895459e-5
allele num: 61220
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15274
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9534
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7904
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.8e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.210000000000001e0

FS
type: SiteQuality
SIO_000300: 1.856e0

VQSLOD
type: SiteQuality
SIO_000300: 3.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

DP
type: SiteQuality
SIO_000300: 1.210326e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.8e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.89e-1

GenotypeQuality
all individuals: 5921
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2631
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 726
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 696
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 747
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9748
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.232437761893024e-4
allele num: 8114
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62656
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15596
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6064
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10592
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.40594e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.704e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.8e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.184e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.764e0

FS
type: SiteQuality
SIO_000300: 2.218e0

MQRankSum
type: SiteQuality
SIO_000300: 9.67e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.427e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 927
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3532
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10072
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.533695285420693e-5
allele num: 65202
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16096
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6322
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11138
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8462
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.523441e6

QD
type: SiteQuality
SIO_000300: 1.303e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.064e0

VQSLOD
type: SiteQuality
SIO_000300: -4.453e-1

MQ
type: SiteQuality
SIO_000300: 5.879e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.5e-2

FS
type: SiteQuality
SIO_000300: 7.187e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.16e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.89e-1

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

GenotypeQuality
all individuals: 36101
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3713
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2568
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1094
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2975
bin: 7.25e1
variant carriers: 0

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

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: 6512
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: 11426
num of homozygotes: 0