1-2341920-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2341920
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2341920
    reference: chr 1
allele count: 1
allele frequency: 9.168760200245722e-6
allele num: 109066
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000424291
  ensembl transcript: ENST00000507596
  gene symbol: PEX10
  hgvsc: ENST00000507596.1:c.113-30C>T
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000423051
  ensembl transcript: ENST00000510434
  gene symbol: PEX10
  hgvsc: ENST00000510434.1:c.113-30C>T
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000461951
  ensembl transcript: ENST00000502666
  gene symbol: PEX10
  hgvsc: ENST00000502666.1:c.*130-30C>T
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000425924
  ensembl transcript: ENST00000514502
  gene symbol: PEX10
  hgvsc: ENST00000514502.1:c.*130-30C>T
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000407922
  ensembl transcript: ENST00000447513
  gene symbol: PEX10
  hgvsc: ENST00000447513.2:c.113-30C>T
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000464289
  ensembl transcript: ENST00000508384
  gene symbol: PEX10
  hgvsc: ENST00000508384.1:c.-320-30C>T
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl transcript: ENST00000504111
  gene symbol: PEX10
  hgvsc: ENST00000504111.1:n.245-30C>T
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000288774
  ensembl transcript: ENST00000288774
  gene symbol: PEX10
  hgvsc: ENST00000288774.3:c.113-30C>T
  variant of: http://identifiers.org/hgnc/8851
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19635
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5252
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7674
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10390
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6570
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14455
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7856
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

1-2341930-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2341930
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2341930
    reference: chr 1
allele count: 1
allele frequency: 9.486945962355799e-6
allele num: 105408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl transcript: ENST00000504111
  gene symbol: PEX10
  hgvsc: ENST00000504111.1:n.245-40C>T
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000423051
  ensembl transcript: ENST00000510434
  gene symbol: PEX10
  hgvsc: ENST00000510434.1:c.113-40C>T
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000424291
  ensembl transcript: ENST00000507596
  gene symbol: PEX10
  hgvsc: ENST00000507596.1:c.113-40C>T
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000425924
  ensembl transcript: ENST00000514502
  gene symbol: PEX10
  hgvsc: ENST00000514502.1:c.*130-40C>T
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000464289
  ensembl transcript: ENST00000508384
  gene symbol: PEX10
  hgvsc: ENST00000508384.1:c.-320-40C>T
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000461951
  ensembl transcript: ENST00000502666
  gene symbol: PEX10
  hgvsc: ENST00000502666.1:c.*130-40C>T
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000288774
  ensembl transcript: ENST00000288774
  gene symbol: PEX10
  hgvsc: ENST00000288774.3:c.113-40C>T
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000407922
  ensembl transcript: ENST00000447513
  gene symbol: PEX10
  hgvsc: ENST00000447513.2:c.113-40C>T
  variant of: http://identifiers.org/hgnc/8851
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4700
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14854
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19826
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4178
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6425
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6463
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5773
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14170
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7851
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

1-2341942-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2341942
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2341942
    reference: chr 1
allele count: 3
allele frequency: 2.998201079352389e-5
allele num: 100060
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000424291
  ensembl transcript: ENST00000507596
  gene symbol: PEX10
  hgvsc: ENST00000507596.1:c.113-52C>T
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000423051
  ensembl transcript: ENST00000510434
  gene symbol: PEX10
  hgvsc: ENST00000510434.1:c.113-52C>T
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000425924
  ensembl transcript: ENST00000514502
  gene symbol: PEX10
  hgvsc: ENST00000514502.1:c.*130-52C>T
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000407922
  ensembl transcript: ENST00000447513
  gene symbol: PEX10
  hgvsc: ENST00000447513.2:c.113-52C>T
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl transcript: ENST00000504111
  gene symbol: PEX10
  hgvsc: ENST00000504111.1:n.245-52C>T
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000461951
  ensembl transcript: ENST00000502666
  gene symbol: PEX10
  hgvsc: ENST00000502666.1:c.*130-52C>T
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000288774
  ensembl transcript: ENST00000288774
  gene symbol: PEX10
  hgvsc: ENST00000288774.3:c.113-52C>T
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000464289
  ensembl transcript: ENST00000508384
  gene symbol: PEX10
  hgvsc: ENST00000508384.1:c.-320-52C>T
  variant of: http://identifiers.org/hgnc/8851
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18783
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14555
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8441
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6250
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6807
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2018
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3988
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7853
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 8983
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff

1-2342157-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2342157
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2342157
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 10776
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000464289
  ensembl transcript: ENST00000508384
  gene symbol: PEX10
  hgvsc: ENST00000508384.1:c.-320-267G>A
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000423051
  ensembl transcript: ENST00000510434
  gene symbol: PEX10
  hgvsc: ENST00000510434.1:c.113-267G>A
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000425924
  ensembl transcript: ENST00000514502
  gene symbol: PEX10
  hgvsc: ENST00000514502.1:c.*41G>A
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000461951
  ensembl transcript: ENST00000502666
  gene symbol: PEX10
  hgvsc: ENST00000502666.1:c.*41G>A
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000424291
  ensembl transcript: ENST00000507596
  gene symbol: PEX10
  hgvsc: ENST00000507596.1:c.113-267G>A
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000407922
  ensembl transcript: ENST00000447513
  gene symbol: PEX10
  hgvsc: ENST00000447513.2:c.113-267G>A
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000288774
  ensembl transcript: ENST00000288774
  gene symbol: PEX10
  hgvsc: ENST00000288774.3:c.113-267G>A
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157911
  ensembl transcript: ENST00000504111
  gene symbol: PEX10
  hgvsc: ENST00000504111.1:n.156G>A
  variant of: http://identifiers.org/hgnc/8851
canonical: false
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5001
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

1-2342160-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2342160
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2342160
    reference: chr 1
allele count: 42
allele frequency: 3.886729594669628e-3
allele num: 10806
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000461951
  ensembl transcript: ENST00000502666
  gene symbol: PEX10
  hgvsc: ENST00000502666.1:c.*38T>C
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000407922
  ensembl transcript: ENST00000447513
  gene symbol: PEX10
  hgvsc: ENST00000447513.2:c.113-270T>C
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000288774
  ensembl transcript: ENST00000288774
  gene symbol: PEX10
  hgvsc: ENST00000288774.3:c.113-270T>C
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000424291
  ensembl transcript: ENST00000507596
  gene symbol: PEX10
  hgvsc: ENST00000507596.1:c.113-270T>C
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000425924
  ensembl transcript: ENST00000514502
  gene symbol: PEX10
  hgvsc: ENST00000514502.1:c.*38T>C
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000464289
  ensembl transcript: ENST00000508384
  gene symbol: PEX10
  hgvsc: ENST00000508384.1:c.-320-270T>C
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000423051
  ensembl transcript: ENST00000510434
  gene symbol: PEX10
  hgvsc: ENST00000510434.1:c.113-270T>C
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157911
  ensembl transcript: ENST00000504111
  gene symbol: PEX10
  hgvsc: ENST00000504111.1:n.153T>C
  variant of: http://identifiers.org/hgnc/8851
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4921
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 7.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 4.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4140
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 9.25e1
  variant carriers: 1
num of homozygotes: 3
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

1-2342161-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2342161
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2342161
    reference: chr 1
allele count: 1
allele frequency: 9.250693802035152e-5
allele num: 10810
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000424291
  ensembl transcript: ENST00000507596
  gene symbol: PEX10
  hgvsc: ENST00000507596.1:c.113-271A>G
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000464289
  ensembl transcript: ENST00000508384
  gene symbol: PEX10
  hgvsc: ENST00000508384.1:c.-320-271A>G
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000407922
  ensembl transcript: ENST00000447513
  gene symbol: PEX10
  hgvsc: ENST00000447513.2:c.113-271A>G
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000461951
  ensembl transcript: ENST00000502666
  gene symbol: PEX10
  hgvsc: ENST00000502666.1:c.*37A>G
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157911
  ensembl transcript: ENST00000504111
  gene symbol: PEX10
  hgvsc: ENST00000504111.1:n.152A>G
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000423051
  ensembl transcript: ENST00000510434
  gene symbol: PEX10
  hgvsc: ENST00000510434.1:c.113-271A>G
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000425924
  ensembl transcript: ENST00000514502
  gene symbol: PEX10
  hgvsc: ENST00000514502.1:c.*37A>G
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000288774
  ensembl transcript: ENST00000288774
  gene symbol: PEX10
  hgvsc: ENST00000288774.3:c.113-271A>G
  variant of: http://identifiers.org/hgnc/8851
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4886
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4138
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ

1-2342164-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2342164
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2342164
    reference: chr 1
allele count: 2
allele frequency: 1.852881230313137e-4
allele num: 10794
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000407922
  ensembl transcript: ENST00000447513
  gene symbol: PEX10
  hgvsc: ENST00000447513.2:c.113-274C>G
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000425924
  ensembl transcript: ENST00000514502
  gene symbol: PEX10
  hgvsc: ENST00000514502.1:c.*34C>G
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157911
  ensembl transcript: ENST00000504111
  gene symbol: PEX10
  hgvsc: ENST00000504111.1:n.149C>G
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000424291
  ensembl transcript: ENST00000507596
  gene symbol: PEX10
  hgvsc: ENST00000507596.1:c.113-274C>G
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000461951
  ensembl transcript: ENST00000502666
  gene symbol: PEX10
  hgvsc: ENST00000502666.1:c.*34C>G
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000464289
  ensembl transcript: ENST00000508384
  gene symbol: PEX10
  hgvsc: ENST00000508384.1:c.-320-274C>G
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000288774
  ensembl transcript: ENST00000288774
  gene symbol: PEX10
  hgvsc: ENST00000288774.3:c.113-274C>G
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000423051
  ensembl transcript: ENST00000510434
  gene symbol: PEX10
  hgvsc: ENST00000510434.1:c.113-274C>G
  variant of: http://identifiers.org/hgnc/8851
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4613
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1945
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3948
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: African
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

1-2342182-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2342182
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2342182
    reference: chr 1
allele count: 7
allele frequency: 6.495916852264291e-4
allele num: 10776
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157911
  ensembl transcript: ENST00000504111
  gene symbol: PEX10
  hgvsc: ENST00000504111.1:n.131C>T
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000423051
  ensembl transcript: ENST00000510434
  gene symbol: PEX10
  hgvsc: ENST00000510434.1:c.113-292C>T
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000461951
  ensembl transcript: ENST00000502666
  gene symbol: PEX10
  hgvsc: ENST00000502666.1:c.*16C>T
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000424291
  ensembl transcript: ENST00000507596
  gene symbol: PEX10
  hgvsc: ENST00000507596.1:c.113-292C>T
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000425924
  ensembl transcript: ENST00000514502
  gene symbol: PEX10
  hgvsc: ENST00000514502.1:c.*16C>T
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000407922
  ensembl transcript: ENST00000447513
  gene symbol: PEX10
  hgvsc: ENST00000447513.2:c.113-292C>T
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000464289
  ensembl transcript: ENST00000508384
  gene symbol: PEX10
  hgvsc: ENST00000508384.1:c.-320-292C>T
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000288774
  ensembl transcript: ENST00000288774
  gene symbol: PEX10
  hgvsc: ENST00000288774.3:c.113-292C>T
  variant of: http://identifiers.org/hgnc/8851
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3703
  bin: 2.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2152
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

1-2342248-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2342248
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2342248
    reference: chr 1
allele count: 36
allele frequency: 3.34075723830735e-3
allele num: 10776
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000461951
  ensembl transcript: ENST00000502666
  gene symbol: PEX10
  hgvsc: ENST00000502666.1:c.28C>G
  hgvsp: ENSP00000461951.1:p.Gln10Glu
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000407922
  ensembl transcript: ENST00000447513
  gene symbol: PEX10
  hgvsc: ENST00000447513.2:c.113-358C>G
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000288774
  ensembl transcript: ENST00000288774
  gene symbol: PEX10
  hgvsc: ENST00000288774.3:c.113-358C>G
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157911
  ensembl transcript: ENST00000504111
  gene symbol: PEX10
  hgvsc: ENST00000504111.1:n.65C>G
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000424291
  ensembl transcript: ENST00000507596
  gene symbol: PEX10
  hgvsc: ENST00000507596.1:c.113-358C>G
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000425924
  ensembl transcript: ENST00000514502
  gene symbol: PEX10
  hgvsc: ENST00000514502.1:c.172C>G
  hgvsp: ENSP00000425924.1:p.Gln58Glu
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000464289
  ensembl transcript: ENST00000508384
  gene symbol: PEX10
  hgvsc: ENST00000508384.1:c.-320-358C>G
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000423051
  ensembl transcript: ENST00000510434
  gene symbol: PEX10
  hgvsc: ENST00000510434.1:c.113-358C>G
  variant of: http://identifiers.org/hgnc/8851
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 9.75e1
  variant carriers: 36
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2208
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gln58Glu
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP

1-2342255-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2342255
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2342255
    reference: chr 1
allele count: 1
allele frequency: 9.285051067780872e-5
allele num: 10770
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000288774
  ensembl transcript: ENST00000288774
  gene symbol: PEX10
  hgvsc: ENST00000288774.3:c.113-365C>T
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000425924
  ensembl transcript: ENST00000514502
  gene symbol: PEX10
  hgvsc: ENST00000514502.1:c.165C>T
  hgvsp: ENST00000514502.1:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000423051
  ensembl transcript: ENST00000510434
  gene symbol: PEX10
  hgvsc: ENST00000510434.1:c.113-365C>T
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000461951
  ensembl transcript: ENST00000502666
  gene symbol: PEX10
  hgvsc: ENST00000502666.1:c.21C>T
  hgvsp: ENST00000502666.1:c.21C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157911
  ensembl transcript: ENST00000504111
  gene symbol: PEX10
  hgvsc: ENST00000504111.1:n.58C>T
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000464289
  ensembl transcript: ENST00000508384
  gene symbol: PEX10
  hgvsc: ENST00000508384.1:c.-320-365C>T
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000407922
  ensembl transcript: ENST00000447513
  gene symbol: PEX10
  hgvsc: ENST00000447513.2:c.113-365C>T
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000424291
  ensembl transcript: ENST00000507596
  gene symbol: PEX10
  hgvsc: ENST00000507596.1:c.113-365C>T
  variant of: http://identifiers.org/hgnc/8851
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2478
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2221
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
hgvs: p.His55His
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/1-2342303-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2342303
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2342303
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 10764
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000423051
  ensembl transcript: ENST00000510434
  gene symbol: PEX10
  hgvsc: ENST00000510434.1:c.113-413T>G
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000464289
  ensembl transcript: ENST00000508384
  gene symbol: PEX10
  hgvsc: ENST00000508384.1:c.-320-413T>G
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000425924
  ensembl transcript: ENST00000514502
  gene symbol: PEX10
  hgvsc: ENST00000514502.1:c.117T>G
  hgvsp: ENST00000514502.1:c.117T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000407922
  ensembl transcript: ENST00000447513
  gene symbol: PEX10
  hgvsc: ENST00000447513.2:c.113-413T>G
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157911
  ensembl transcript: ENST00000504111
  gene symbol: PEX10
  hgvsc: ENST00000504111.1:n.10T>G
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000424291
  ensembl transcript: ENST00000507596
  gene symbol: PEX10
  hgvsc: ENST00000507596.1:c.113-413T>G
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000288774
  ensembl transcript: ENST00000288774
  gene symbol: PEX10
  hgvsc: ENST00000288774.3:c.113-413T>G
  variant of: http://identifiers.org/hgnc/8851
canonical: false
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2190
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2211
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1923
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu39Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

1-2342312-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2342312
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2342312
    reference: chr 1
allele count: 103
allele frequency: 9.583178265723856e-3
allele num: 10748
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000423051
  ensembl transcript: ENST00000510434
  gene symbol: PEX10
  hgvsc: ENST00000510434.1:c.113-422A>G
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000464289
  ensembl transcript: ENST00000508384
  gene symbol: PEX10
  hgvsc: ENST00000508384.1:c.-320-422A>G
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000424291
  ensembl transcript: ENST00000507596
  gene symbol: PEX10
  hgvsc: ENST00000507596.1:c.113-422A>G
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000425924
  ensembl transcript: ENST00000514502
  gene symbol: PEX10
  hgvsc: ENST00000514502.1:c.113-5A>G
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000288774
  ensembl transcript: ENST00000288774
  gene symbol: PEX10
  hgvsc: ENST00000288774.3:c.113-422A>G
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157911
  ensembl transcript: ENST00000504111
  gene symbol: PEX10
  hgvsc: ENST00000504111.1:n.1A>G
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000407922
  ensembl transcript: ENST00000447513
  gene symbol: PEX10
  hgvsc: ENST00000447513.2:c.113-422A>G
  variant of: http://identifiers.org/hgnc/8851
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1860
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 9.75e1
  variant carriers: 99
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 2.5e0
  variant carriers: 0
hgvs: c.113-5A>G
num of homozygotes: 4
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: T
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

1-2342329-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2342329
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2342329
    reference: chr 1
allele count: 24
allele frequency: 2.235885969815539e-3
allele num: 10734
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000425924
  ensembl transcript: ENST00000514502
  gene symbol: PEX10
  hgvsc: ENST00000514502.1:c.113-22C>A
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000407922
  ensembl transcript: ENST00000447513
  gene symbol: PEX10
  hgvsc: ENST00000447513.2:c.113-439C>A
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000423051
  ensembl transcript: ENST00000510434
  gene symbol: PEX10
  hgvsc: ENST00000510434.1:c.113-439C>A
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000424291
  ensembl transcript: ENST00000507596
  gene symbol: PEX10
  hgvsc: ENST00000507596.1:c.113-439C>A
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000288774
  ensembl transcript: ENST00000288774
  gene symbol: PEX10
  hgvsc: ENST00000288774.3:c.113-439C>A
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000464289
  ensembl transcript: ENST00000508384
  gene symbol: PEX10
  hgvsc: ENST00000508384.1:c.-320-439C>A
  variant of: http://identifiers.org/hgnc/8851
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2205
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 9.75e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2099
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/1-2343814-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2343814
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2343814
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 850
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000464289
  ensembl transcript: ENST00000508384
  gene symbol: PEX10
  hgvsc: ENST00000508384.1:c.-321+1222G>T
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000424291
  ensembl transcript: ENST00000507596
  gene symbol: PEX10
  hgvsc: ENST00000507596.1:c.112+16G>T
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000407922
  ensembl transcript: ENST00000447513
  gene symbol: PEX10
  hgvsc: ENST00000447513.2:c.112+16G>T
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000288774
  ensembl transcript: ENST00000288774
  gene symbol: PEX10
  hgvsc: ENST00000288774.3:c.112+16G>T
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000425924
  ensembl transcript: ENST00000514502
  gene symbol: PEX10
  hgvsc: ENST00000514502.1:c.112+16G>T
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000423051
  ensembl transcript: ENST00000510434
  gene symbol: PEX10
  hgvsc: ENST00000510434.1:c.112+16G>T
  variant of: http://identifiers.org/hgnc/8851
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16657
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2708
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2194
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1885
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14591
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 6.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

1-2343840-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2343840
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2343840
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 2376
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000423051
  ensembl transcript: ENST00000510434
  gene symbol: PEX10
  hgvsc: ENST00000510434.1:c.102C>G
  hgvsp: ENSP00000423051.1:p.His34Gln
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000407922
  ensembl transcript: ENST00000447513
  gene symbol: PEX10
  hgvsc: ENST00000447513.2:c.102C>G
  hgvsp: ENSP00000407922.2:p.His34Gln
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000288774
  ensembl transcript: ENST00000288774
  gene symbol: PEX10
  hgvsc: ENST00000288774.3:c.102C>G
  hgvsp: ENSP00000288774.3:p.His34Gln
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000464289
  ensembl transcript: ENST00000508384
  gene symbol: PEX10
  hgvsc: ENST00000508384.1:c.-321+1196C>G
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000425924
  ensembl transcript: ENST00000514502
  gene symbol: PEX10
  hgvsc: ENST00000514502.1:c.102C>G
  hgvsp: ENSP00000425924.1:p.His34Gln
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000424291
  ensembl transcript: ENST00000507596
  gene symbol: PEX10
  hgvsc: ENST00000507596.1:c.102C>G
  hgvsp: ENSP00000424291.1:p.His34Gln
  variant of: http://identifiers.org/hgnc/8851
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6104
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24642
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5224
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23600
  bin: 7.5e0
  variant carriers: 1
hgvs: p.His34Gln
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

1-2343874-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2343874
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2343874
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 5532
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000407922
  ensembl transcript: ENST00000447513
  gene symbol: PEX10
  hgvsc: ENST00000447513.2:c.68G>A
  hgvsp: ENSP00000407922.2:p.Gly23Asp
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000464289
  ensembl transcript: ENST00000508384
  gene symbol: PEX10
  hgvsc: ENST00000508384.1:c.-321+1162G>A
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000425924
  ensembl transcript: ENST00000514502
  gene symbol: PEX10
  hgvsc: ENST00000514502.1:c.68G>A
  hgvsp: ENSP00000425924.1:p.Gly23Asp
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000424291
  ensembl transcript: ENST00000507596
  gene symbol: PEX10
  hgvsc: ENST00000507596.1:c.68G>A
  hgvsp: ENSP00000424291.1:p.Gly23Asp
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000288774
  ensembl transcript: ENST00000288774
  gene symbol: PEX10
  hgvsc: ENST00000288774.3:c.68G>A
  hgvsp: ENSP00000288774.3:p.Gly23Asp
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000423051
  ensembl transcript: ENST00000510434
  gene symbol: PEX10
  hgvsc: ENST00000510434.1:c.68G>A
  hgvsp: ENSP00000423051.1:p.Gly23Asp
  variant of: http://identifiers.org/hgnc/8851
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26599
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13086
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25869
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12350
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 814
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly23Asp
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum

1-2343878-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2343878
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2343878
    reference: chr 1
allele count: 1
allele frequency: 1.728309713100588e-4
allele num: 5786
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000423051
  ensembl transcript: ENST00000510434
  gene symbol: PEX10
  hgvsc: ENST00000510434.1:c.64C>G
  hgvsp: ENSP00000423051.1:p.Arg22Gly
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000425924
  ensembl transcript: ENST00000514502
  gene symbol: PEX10
  hgvsc: ENST00000514502.1:c.64C>G
  hgvsp: ENSP00000425924.1:p.Arg22Gly
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000288774
  ensembl transcript: ENST00000288774
  gene symbol: PEX10
  hgvsc: ENST00000288774.3:c.64C>G
  hgvsp: ENSP00000288774.3:p.Arg22Gly
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000464289
  ensembl transcript: ENST00000508384
  gene symbol: PEX10
  hgvsc: ENST00000508384.1:c.-321+1158C>G
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000407922
  ensembl transcript: ENST00000447513
  gene symbol: PEX10
  hgvsc: ENST00000447513.2:c.64C>G
  hgvsp: ENSP00000407922.2:p.Arg22Gly
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000424291
  ensembl transcript: ENST00000507596
  gene symbol: PEX10
  hgvsc: ENST00000507596.1:c.64C>G
  hgvsp: ENSP00000424291.1:p.Arg22Gly
  variant of: http://identifiers.org/hgnc/8851
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26386
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13634
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12898
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25744
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 793
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg22Gly
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

1-2343891-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2343891
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2343891
    reference: chr 1
allele count: 3
allele frequency: 4.878048780487805e-4
allele num: 6150
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000424291
  ensembl transcript: ENST00000507596
  gene symbol: PEX10
  hgvsc: ENST00000507596.1:c.51G>A
  hgvsp: ENST00000507596.1:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000407922
  ensembl transcript: ENST00000447513
  gene symbol: PEX10
  hgvsc: ENST00000447513.2:c.51G>A
  hgvsp: ENST00000447513.2:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000288774
  ensembl transcript: ENST00000288774
  gene symbol: PEX10
  hgvsc: ENST00000288774.3:c.51G>A
  hgvsp: ENST00000288774.3:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000423051
  ensembl transcript: ENST00000510434
  gene symbol: PEX10
  hgvsc: ENST00000510434.1:c.51G>A
  hgvsp: ENST00000510434.1:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000464289
  ensembl transcript: ENST00000508384
  gene symbol: PEX10
  hgvsc: ENST00000508384.1:c.-321+1145G>A
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000425924
  ensembl transcript: ENST00000514502
  gene symbol: PEX10
  hgvsc: ENST00000514502.1:c.51G>A
  hgvsp: ENST00000514502.1:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8851
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13542
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26197
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12282
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1188
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25272
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Lys17Lys
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

1-2343901-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2343901
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2343901
    reference: chr 1
allele count: 2
allele frequency: 3.323363243602525e-4
allele num: 6018
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000407922
  ensembl transcript: ENST00000447513
  gene symbol: PEX10
  hgvsc: ENST00000447513.2:c.41C>T
  hgvsp: ENSP00000407922.2:p.Ala14Val
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000424291
  ensembl transcript: ENST00000507596
  gene symbol: PEX10
  hgvsc: ENST00000507596.1:c.41C>T
  hgvsp: ENSP00000424291.1:p.Ala14Val
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000288774
  ensembl transcript: ENST00000288774
  gene symbol: PEX10
  hgvsc: ENST00000288774.3:c.41C>T
  hgvsp: ENSP00000288774.3:p.Ala14Val
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000423051
  ensembl transcript: ENST00000510434
  gene symbol: PEX10
  hgvsc: ENST00000510434.1:c.41C>T
  hgvsp: ENSP00000423051.1:p.Ala14Val
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000464289
  ensembl transcript: ENST00000508384
  gene symbol: PEX10
  hgvsc: ENST00000508384.1:c.-321+1135C>T
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000425924
  ensembl transcript: ENST00000514502
  gene symbol: PEX10
  hgvsc: ENST00000514502.1:c.41C>T
  hgvsp: ENSP00000425924.1:p.Ala14Val
  variant of: http://identifiers.org/hgnc/8851
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13297
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26243
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1180
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25446
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala14Val
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

1-2343915-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2343915
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2343915
    reference: chr 1
allele count: 15
allele frequency: 2.737226277372263e-3
allele num: 5480
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000464289
  ensembl transcript: ENST00000508384
  gene symbol: PEX10
  hgvsc: ENST00000508384.1:c.-321+1121G>A
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000407922
  ensembl transcript: ENST00000447513
  gene symbol: PEX10
  hgvsc: ENST00000447513.2:c.27G>A
  hgvsp: ENST00000447513.2:c.27G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000288774
  ensembl transcript: ENST00000288774
  gene symbol: PEX10
  hgvsc: ENST00000288774.3:c.27G>A
  hgvsp: ENST00000288774.3:c.27G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000425924
  ensembl transcript: ENST00000514502
  gene symbol: PEX10
  hgvsc: ENST00000514502.1:c.27G>A
  hgvsp: ENST00000514502.1:c.27G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000424291
  ensembl transcript: ENST00000507596
  gene symbol: PEX10
  hgvsc: ENST00000507596.1:c.27G>A
  hgvsp: ENST00000507596.1:c.27G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000423051
  ensembl transcript: ENST00000510434
  gene symbol: PEX10
  hgvsc: ENST00000510434.1:c.27G>A
  hgvsp: ENST00000510434.1:c.27G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8851
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26333
  bin: 2.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 11829
  bin: 7.5e0
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11279
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1057
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 1.25e1
  variant carriers: 3
hgvs: p.Pro9Pro
num of homozygotes: 1
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
reference allele: C
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD

1-2343920-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2343920
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2343920
    reference: chr 1
allele count: 1
allele frequency: 2.023472278429786e-4
allele num: 4942
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000407922
  ensembl transcript: ENST00000447513
  gene symbol: PEX10
  hgvsc: ENST00000447513.2:c.22C>T
  hgvsp: ENSP00000407922.2:p.Pro8Ser
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000288774
  ensembl transcript: ENST00000288774
  gene symbol: PEX10
  hgvsc: ENST00000288774.3:c.22C>T
  hgvsp: ENSP00000288774.3:p.Pro8Ser
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000424291
  ensembl transcript: ENST00000507596
  gene symbol: PEX10
  hgvsc: ENST00000507596.1:c.22C>T
  hgvsp: ENSP00000424291.1:p.Pro8Ser
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000423051
  ensembl transcript: ENST00000510434
  gene symbol: PEX10
  hgvsc: ENST00000510434.1:c.22C>T
  hgvsp: ENSP00000423051.1:p.Pro8Ser
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000425924
  ensembl transcript: ENST00000514502
  gene symbol: PEX10
  hgvsc: ENST00000514502.1:c.22C>T
  hgvsp: ENSP00000425924.1:p.Pro8Ser
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000464289
  ensembl transcript: ENST00000508384
  gene symbol: PEX10
  hgvsc: ENST00000508384.1:c.-321+1116C>T
  variant of: http://identifiers.org/hgnc/8851
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10036
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26077
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9406
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1032
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro8Ser
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

1-2343936-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2343936
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2343936
    reference: chr 1
allele count: 61
allele frequency: 1.71830985915493e-2
allele num: 3550
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000288774
  ensembl transcript: ENST00000288774
  gene symbol: PEX10
  hgvsc: ENST00000288774.3:c.6C>G
  hgvsp: ENST00000288774.3:c.6C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000424291
  ensembl transcript: ENST00000507596
  gene symbol: PEX10
  hgvsc: ENST00000507596.1:c.6C>G
  hgvsp: ENST00000507596.1:c.6C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000407922
  ensembl transcript: ENST00000447513
  gene symbol: PEX10
  hgvsc: ENST00000447513.2:c.6C>G
  hgvsp: ENST00000447513.2:c.6C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000425924
  ensembl transcript: ENST00000514502
  gene symbol: PEX10
  hgvsc: ENST00000514502.1:c.6C>G
  hgvsp: ENST00000514502.1:c.6C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000423051
  ensembl transcript: ENST00000510434
  gene symbol: PEX10
  hgvsc: ENST00000510434.1:c.6C>G
  hgvsp: ENST00000510434.1:c.6C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000464289
  ensembl transcript: ENST00000508384
  gene symbol: PEX10
  hgvsc: ENST00000508384.1:c.-321+1100C>G
  variant of: http://identifiers.org/hgnc/8851
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6838
  bin: 7.5e0
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25523
  bin: 2.5e0
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 1.25e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 6.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 5889
  bin: 2.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 9.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1852
  bin: 2.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 3.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 1.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 2.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 24322
  bin: 7.5e0
  variant carriers: 11
hgvs: p.Ala2Ala
num of homozygotes: 1
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum

1-2343937-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2343937
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2343936
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 3392
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000424291
  ensembl transcript: ENST00000507596
  gene symbol: PEX10
  hgvsc: ENST00000507596.1:c.4delG
  hgvsp: ENSP00000424291.1:p.Ala2ProfsTer10
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000464289
  ensembl transcript: ENST00000508384
  gene symbol: PEX10
  hgvsc: ENST00000508384.1:c.-321+1098delG
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000407922
  ensembl transcript: ENST00000447513
  gene symbol: PEX10
  hgvsc: ENST00000447513.2:c.4delG
  hgvsp: ENSP00000407922.2:p.Ala2ProfsTer10
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000288774
  ensembl transcript: ENST00000288774
  gene symbol: PEX10
  hgvsc: ENST00000288774.3:c.4delG
  hgvsp: ENSP00000288774.3:p.Ala2ProfsTer10
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000423051
  ensembl transcript: ENST00000510434
  gene symbol: PEX10
  hgvsc: ENST00000510434.1:c.4delG
  hgvsp: ENSP00000423051.1:p.Ala2ProfsTer10
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000425924
  ensembl transcript: ENST00000514502
  gene symbol: PEX10
  hgvsc: ENST00000514502.1:c.4delG
  hgvsp: ENSP00000425924.1:p.Ala2ProfsTer10
  variant of: http://identifiers.org/hgnc/8851
canonical: true
consequence: frameshift
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 25581
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6589
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala2ProfsTer10
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: GC
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum

http://identifiers.org/exac.variant/1-2343938-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2343938
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2343938
    reference: chr 1
allele count: 1
allele frequency: 3.008423586040915e-4
allele num: 3324
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000464289
  ensembl transcript: ENST00000508384
  gene symbol: PEX10
  hgvsc: ENST00000508384.1:c.-321+1098G>T
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000424291
  ensembl transcript: ENST00000507596
  gene symbol: PEX10
  hgvsc: ENST00000507596.1:c.4G>T
  hgvsp: ENSP00000424291.1:p.Ala2Ser
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000407922
  ensembl transcript: ENST00000447513
  gene symbol: PEX10
  hgvsc: ENST00000447513.2:c.4G>T
  hgvsp: ENSP00000407922.2:p.Ala2Ser
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000425924
  ensembl transcript: ENST00000514502
  gene symbol: PEX10
  hgvsc: ENST00000514502.1:c.4G>T
  hgvsp: ENSP00000425924.1:p.Ala2Ser
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000288774
  ensembl transcript: ENST00000288774
  gene symbol: PEX10
  hgvsc: ENST00000288774.3:c.4G>T
  hgvsp: ENSP00000288774.3:p.Ala2Ser
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000423051
  ensembl transcript: ENST00000510434
  gene symbol: PEX10
  hgvsc: ENST00000510434.1:c.4G>T
  hgvsp: ENSP00000423051.1:p.Ala2Ser
  variant of: http://identifiers.org/hgnc/8851
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6542
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25655
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5751
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24489
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1835
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala2Ser
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

1-2343943-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2343943
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2343943
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 2886
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000425924
  ensembl transcript: ENST00000514502
  gene symbol: PEX10
  hgvsc: ENST00000514502.1:c.-2C>T
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000464289
  ensembl transcript: ENST00000508384
  gene symbol: PEX10
  hgvsc: ENST00000508384.1:c.-321+1093C>T
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000423051
  ensembl transcript: ENST00000510434
  gene symbol: PEX10
  hgvsc: ENST00000510434.1:c.-2C>T
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000407922
  ensembl transcript: ENST00000447513
  gene symbol: PEX10
  hgvsc: ENST00000447513.2:c.-2C>T
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000288774
  ensembl transcript: ENST00000288774
  gene symbol: PEX10
  hgvsc: ENST00000288774.3:c.-2C>T
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000424291
  ensembl transcript: ENST00000507596
  gene symbol: PEX10
  hgvsc: ENST00000507596.1:c.-2C>T
  variant of: http://identifiers.org/hgnc/8851
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 5607
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25167
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23795
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4591
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD

1-2343944-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2343944
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2343944
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 2736
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000407922
  ensembl transcript: ENST00000447513
  gene symbol: PEX10
  hgvsc: ENST00000447513.2:c.-3G>C
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000425924
  ensembl transcript: ENST00000514502
  gene symbol: PEX10
  hgvsc: ENST00000514502.1:c.-3G>C
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000288774
  ensembl transcript: ENST00000288774
  gene symbol: PEX10
  hgvsc: ENST00000288774.3:c.-3G>C
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000464289
  ensembl transcript: ENST00000508384
  gene symbol: PEX10
  hgvsc: ENST00000508384.1:c.-321+1092G>C
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000424291
  ensembl transcript: ENST00000507596
  gene symbol: PEX10
  hgvsc: ENST00000507596.1:c.-3G>C
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000423051
  ensembl transcript: ENST00000510434
  gene symbol: PEX10
  hgvsc: ENST00000510434.1:c.-3G>C
  variant of: http://identifiers.org/hgnc/8851
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 25014
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5450
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23542
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4362
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/1-2343963-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2343963
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2343963
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 1322
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000423051
  ensembl transcript: ENST00000510434
  gene symbol: PEX10
  hgvsc: ENST00000510434.1:c.-22G>T
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000407922
  ensembl transcript: ENST00000447513
  gene symbol: PEX10
  hgvsc: ENST00000447513.2:c.-22G>T
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000424291
  ensembl transcript: ENST00000507596
  gene symbol: PEX10
  hgvsc: ENST00000507596.1:c.-22G>T
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000464289
  ensembl transcript: ENST00000508384
  gene symbol: PEX10
  hgvsc: ENST00000508384.1:c.-321+1073G>T
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000288774
  ensembl transcript: ENST00000288774
  gene symbol: PEX10
  hgvsc: ENST00000288774.3:c.-22G>T
  variant of: http://identifiers.org/hgnc/8851
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3066
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 21906
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19077
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1786
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3516
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

1-2343974-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2343974
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2343974
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 626
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000407922
  ensembl transcript: ENST00000447513
  gene symbol: PEX10
  hgvsc: ENST00000447513.2:c.-33C>T
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000464289
  ensembl transcript: ENST00000508384
  gene symbol: PEX10
  hgvsc: ENST00000508384.1:c.-321+1062C>T
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000423051
  ensembl transcript: ENST00000510434
  gene symbol: PEX10
  hgvsc: ENST00000510434.1:c.-33C>T
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000424291
  ensembl transcript: ENST00000507596
  gene symbol: PEX10
  hgvsc: ENST00000507596.1:c.-33C>T
  variant of: http://identifiers.org/hgnc/8851
canonical: false
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2316
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
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: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5034
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 16601
  bin: 7.5e0
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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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  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: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-2343991-CCA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2343991
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2343989
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 296
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000464289
  ensembl transcript: ENST00000508384
  gene symbol: PEX10
  hgvsc: ENST00000508384.1:c.-321+1043_-321+1044delTG
  variant of: http://identifiers.org/hgnc/8851
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000157911
  ensembl protein: ENSP00000407922
  ensembl transcript: ENST00000447513
  gene symbol: PEX10
  hgvsc: ENST00000447513.2:c.-52_-51delTG
  variant of: http://identifiers.org/hgnc/8851
canonical: false
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21821
  bin: 2.5e0
  variant carriers: 5
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
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14874
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6
  num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: CCA
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

1-2361969-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2361969
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2361969
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 6
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000476436
  ensembl transcript: ENST00000609981
  gene symbol: PLCH2
  hgvsc: ENST00000609981.1:c.16A>G
  hgvsp: ENSP00000476436.1:p.Thr6Ala
  variant of: http://identifiers.org/hgnc/29037
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  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: 6567
  bin: 2.5e0
  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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  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
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
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  variant carriers: 0
hgvs: p.Thr6Ala
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: NaN
  allele num: 0
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: NaN
  allele num: 0
  num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: QD

1-2362001-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2362001
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2362001
    reference: chr 1
allele count: 2
allele frequency: 1.25e-1
allele num: 16
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000476436
  ensembl transcript: ENST00000609981
  gene symbol: PLCH2
  hgvsc: ENST00000609981.1:c.48G>A
  hgvsp: ENST00000609981.1:c.48G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29037
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4675
  bin: 2.5e0
  variant carriers: 62
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 162
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 32
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 3
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genotype quality: GenotypeQuality
  all individuals: 0
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hgvs: p.Pro16Pro
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2
  num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD

1-2362003-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2362003
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2362003
    reference: chr 1
allele count: 1
allele frequency: 7.142857142857142e-2
allele num: 14
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000476436
  ensembl transcript: ENST00000609981
  gene symbol: PLCH2
  hgvsc: ENST00000609981.1:c.50C>T
  hgvsp: ENSP00000476436.1:p.Pro17Leu
  variant of: http://identifiers.org/hgnc/29037
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro17Leu
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 1
  allele frequency: 5.0e-1
  allele num: 2
  num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum

1-2362020-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2362020
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2362020
    reference: chr 1
allele count: 7
allele frequency: 3.888888888888889e-1
allele num: 18
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000476436
  ensembl transcript: ENST00000609981
  gene symbol: PLCH2
  hgvsc: ENST00000609981.1:c.67G>T
  hgvsp: ENSP00000476436.1:p.Asp23Tyr
  variant of: http://identifiers.org/hgnc/29037
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2642
  bin: 2.5e0
  variant carriers: 319
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Asp23Tyr
num of homozygotes: 1
population: East Asian
  type: Population
  allele count: 1
  allele frequency: 5.0e-1
  allele num: 2
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
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  allele num: 0
  num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS

1-2362064-C-CGTGGGTGAGTGAGGCCCTGGCT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2362064
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2362086
    reference: chr 1
allele count: 3
allele frequency: 2.142857142857143e-1
allele num: 14
alternate allele: CGTGGGTGAGTGAGGCCCTGGCT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: stop_gained
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000476436
  ensembl transcript: ENST00000609981
  gene symbol: PLCH2
  variant of: http://identifiers.org/hgnc/29037
canonical: false
consequence: stop gained
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
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genotype depth: GenotypeDepth
  all individuals: 0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 1
population: Other
  type: Population
  allele count: 0
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population: Latino
  type: Population
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population: South Asian
  type: Population
  allele count: 0
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  allele num: 0
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/1-2399042-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2399042
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2399042
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 4
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.-17A>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000476436
  ensembl transcript: ENST00000609981
  gene symbol: PLCH2
  hgvsc: ENST00000609981.1:c.116-10873A>C
  variant of: http://identifiers.org/hgnc/29037
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: NaN
  allele num: 0
  num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: QD
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site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
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site quality: DP

1-2399076-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2399076
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2399076
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 4
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.18C>T
  hgvsp: ENST00000449969.1:c.18C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000476436
  ensembl transcript: ENST00000609981
  gene symbol: PLCH2
  hgvsc: ENST00000609981.1:c.116-10839C>T
  variant of: http://identifiers.org/hgnc/29037
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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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: 5315
  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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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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  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro6Pro
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: NaN
  allele num: 0
  num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

1-2399116-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2399116
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2399116
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 8
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.43+15G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000476436
  ensembl transcript: ENST00000609981
  gene symbol: PLCH2
  hgvsc: ENST00000609981.1:c.116-10799G>A
  variant of: http://identifiers.org/hgnc/29037
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: NaN
  allele num: 0
  num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum

1-2399119-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2399119
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2399119
    reference: chr 1
allele count: 12
allele frequency: 6.0e-1
allele num: 20
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000476436
  ensembl transcript: ENST00000609981
  gene symbol: PLCH2
  hgvsc: ENST00000609981.1:c.116-10796A>G
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.43+18A>G
  variant of: http://identifiers.org/hgnc/29037
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 4
population: South Asian
  type: Population
  allele count: 7
  allele frequency: 8.75e-1
  allele num: 8
  num of homozygotes: 3
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

1-2399131-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2399131
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2399131
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 10
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000476436
  ensembl transcript: ENST00000609981
  gene symbol: PLCH2
  hgvsc: ENST00000609981.1:c.116-10784G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.43+30G>A
  variant of: http://identifiers.org/hgnc/29037
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
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  allele frequency: 0.0e0
  allele num: 4
  num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
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site quality: VQSLOD
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1-2399144-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2399144
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2399144
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 12
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000476436
  ensembl transcript: ENST00000609981
  gene symbol: PLCH2
  hgvsc: ENST00000609981.1:c.116-10771C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.43+43C>T
  variant of: http://identifiers.org/hgnc/29037
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

1-2399149-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2399149
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2399149
    reference: chr 1
allele count: 8
allele frequency: 5.0e-1
allele num: 16
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000476436
  ensembl transcript: ENST00000609981
  gene symbol: PLCH2
  hgvsc: ENST00000609981.1:c.116-10766A>G
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.43+48A>G
  variant of: http://identifiers.org/hgnc/29037
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 210
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  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: 2.5e0
  variant carriers: 671
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 113
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1256
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 192
  bin: 1.25e1
  variant carriers: 173
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 6.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 5
num of homozygotes: 2
population: East Asian
  type: Population
  allele count: 2
  allele frequency: 5.0e-1
  allele num: 4
  num of homozygotes: 1
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

1-2407979-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2407979
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2407979
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 11276
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.-49C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.-49C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.-49C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.-184C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000476436
  ensembl transcript: ENST00000609981
  gene symbol: PLCH2
  hgvsc: ENST00000609981.1:c.116-1936C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.44-1936C>T
  variant of: http://identifiers.org/hgnc/29037
canonical: false
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 31326
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19981
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2623
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 255
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 2
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 22853
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

1-2407980-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2407980
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2407980
    reference: chr 1
allele count: 28
allele frequency: 2.473498233215548e-3
allele num: 11320
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.-183G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.-48G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.-48G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000476436
  ensembl transcript: ENST00000609981
  gene symbol: PLCH2
  hgvsc: ENST00000609981.1:c.116-1935G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.-48G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.44-1935G>A
  variant of: http://identifiers.org/hgnc/29037
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2629
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  variant carriers: 16
genotype depth: GenotypeDepth
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  variant carriers: 3
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20004
  bin: 7.5e0
  variant carriers: 50
genotype depth: GenotypeDepth
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  variant carriers: 5
genotype depth: GenotypeDepth
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  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 333
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
  all individuals: 377
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 99
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  variant carriers: 7
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

1-2407981-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2407981
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2407981
    reference: chr 1
allele count: 11
allele frequency: 9.712166696097474e-4
allele num: 11326
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.-47G>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.-47G>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.44-1934G>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000476436
  ensembl transcript: ENST00000609981
  gene symbol: PLCH2
  hgvsc: ENST00000609981.1:c.116-1934G>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.-182G>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.-47G>C
  variant of: http://identifiers.org/hgnc/29037
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
  all individuals: 176
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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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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 828
  bin: 9.75e1
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 7606
  bin: 1.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD

1-2407994-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2407994
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2407994
    reference: chr 1
allele count: 2
allele frequency: 1.690902942171119e-4
allele num: 11828
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.-34G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.-34G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.-169G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.44-1921G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.-34G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000476436
  ensembl transcript: ENST00000609981
  gene symbol: PLCH2
  hgvsc: ENST00000609981.1:c.116-1921G>A
  variant of: http://identifiers.org/hgnc/29037
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2768
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22272
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 29446
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1906
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5612
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15827
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 25076
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1180
  bin: 2.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/1-2407995-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2407995
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2407995
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 11846
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000476436
  ensembl transcript: ENST00000609981
  gene symbol: PLCH2
  hgvsc: ENST00000609981.1:c.116-1920C>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.-168C>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.-33C>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.-33C>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.44-1920C>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.-33C>A
  variant of: http://identifiers.org/hgnc/29037
canonical: false
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2823
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29146
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22547
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16142
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25054
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 995
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3741
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1929
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5448
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 915
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1179
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ

1-2407999-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2407999
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2407999
    reference: chr 1
allele count: 3
allele frequency: 2.45378701128742e-4
allele num: 12226
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.-29C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000476436
  ensembl transcript: ENST00000609981
  gene symbol: PLCH2
  hgvsc: ENST00000609981.1:c.116-1916C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.-29C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.-29C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.-164C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.44-1916C>T
  variant of: http://identifiers.org/hgnc/29037
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2955
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23787
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27890
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1018
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 337
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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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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 176
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3198
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum

1-2408000-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2408000
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2408000
    reference: chr 1
allele count: 1
allele frequency: 8.042464211034261e-5
allele num: 12434
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.-28G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.-163G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.-28G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000476436
  ensembl transcript: ENST00000609981
  gene symbol: PLCH2
  hgvsc: ENST00000609981.1:c.116-1915G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.44-1915G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.-28G>A
  variant of: http://identifiers.org/hgnc/29037
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24503
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 1.75e1
  variant carriers: 1
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: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1103
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4411
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 953
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1221
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 24375
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1394
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 19407
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS

1-2408002-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2408002
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2408002
    reference: chr 1
allele count: 10
allele frequency: 7.881462799495586e-4
allele num: 12688
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000476436
  ensembl transcript: ENST00000609981
  gene symbol: PLCH2
  hgvsc: ENST00000609981.1:c.116-1913G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.-26G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.-26G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.44-1913G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.-26G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.-161G>A
  variant of: http://identifiers.org/hgnc/29037
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25352
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 186
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
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genotype depth: GenotypeDepth
  all individuals: 873
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genotype depth: GenotypeDepth
  all individuals: 33
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genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 26335
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3045
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 22
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
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genotype depth: GenotypeDepth
  all individuals: 646
  bin: 2.75e1
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genotype depth: GenotypeDepth
  all individuals: 4
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genotype depth: GenotypeDepth
  all individuals: 142
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genotype depth: GenotypeDepth
  all individuals: 80
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
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genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
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genotype quality: GenotypeQuality
  all individuals: 180
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genotype quality: GenotypeQuality
  all individuals: 24035
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genotype quality: GenotypeQuality
  all individuals: 97
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genotype quality: GenotypeQuality
  all individuals: 35
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genotype quality: GenotypeQuality
  all individuals: 327
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genotype quality: GenotypeQuality
  all individuals: 1167
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genotype quality: GenotypeQuality
  all individuals: 330
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 805
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  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 2457
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genotype quality: GenotypeQuality
  all individuals: 74
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genotype quality: GenotypeQuality
  all individuals: 1208
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genotype quality: GenotypeQuality
  all individuals: 1244
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genotype quality: GenotypeQuality
  all individuals: 953
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

1-2408008-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2408008
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2408008
    reference: chr 1
allele count: 1
allele frequency: 7.621951219512195e-5
allele num: 13120
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.-20G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.-20G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000476436
  ensembl transcript: ENST00000609981
  gene symbol: PLCH2
  hgvsc: ENST00000609981.1:c.116-1907G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.-155G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.44-1907G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.-20G>A
  variant of: http://identifiers.org/hgnc/29037
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26802
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
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genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
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genotype depth: GenotypeDepth
  all individuals: 3328
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genotype depth: GenotypeDepth
  all individuals: 4
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24315
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 455
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
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genotype depth: GenotypeDepth
  all individuals: 23
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
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genotype depth: GenotypeDepth
  all individuals: 81
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genotype depth: GenotypeDepth
  all individuals: 22
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genotype quality: GenotypeQuality
  all individuals: 20444
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genotype quality: GenotypeQuality
  all individuals: 1050
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 403
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genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 143
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3766
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genotype quality: GenotypeQuality
  all individuals: 1604
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 797
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genotype quality: GenotypeQuality
  all individuals: 3853
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD

1-2408009-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2408009
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2408009
    reference: chr 1
allele count: 1
allele frequency: 7.543753771876886e-5
allele num: 13256
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.-19G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.44-1906G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.-154G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.-19G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.-19G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000476436
  ensembl transcript: ENST00000609981
  gene symbol: PLCH2
  hgvsc: ENST00000609981.1:c.116-1906G>A
  variant of: http://identifiers.org/hgnc/29037
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
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genotype depth: GenotypeDepth
  all individuals: 24022
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 152
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum

1-2408010-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2408010
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2408010
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 13378
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.44-1905C>G
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.-18C>G
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.-18C>G
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000476436
  ensembl transcript: ENST00000609981
  gene symbol: PLCH2
  hgvsc: ENST00000609981.1:c.116-1905C>G
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.-18C>G
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.-153C>G
  variant of: http://identifiers.org/hgnc/29037
canonical: false
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
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genotype depth: GenotypeDepth
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  variant carriers: 0
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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: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20967
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3708
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1735
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1034
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1065
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3738
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/1-2408012-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2408012
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2408012
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 13776
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.-16C>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000476436
  ensembl transcript: ENST00000609981
  gene symbol: PLCH2
  hgvsc: ENST00000609981.1:c.116-1903C>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.-16C>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.-16C>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.-151C>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.44-1903C>A
  variant of: http://identifiers.org/hgnc/29037
canonical: false
consequence: 5' UTR
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28191
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3638
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22591
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1890
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21818
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3769
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3463
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1328
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21027
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD

1-2408012-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2408012
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2408012
    reference: chr 1
allele count: 25
allele frequency: 1.814750290360047e-3
allele num: 13776
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.-16C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.44-1903C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000476436
  ensembl transcript: ENST00000609981
  gene symbol: PLCH2
  hgvsc: ENST00000609981.1:c.116-1903C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.-16C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.-151C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.-16C>T
  variant of: http://identifiers.org/hgnc/29037
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28191
  bin: 7.5e0
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3638
  bin: 1.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22591
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3769
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1890
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 9.75e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 8.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 8.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 21818
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 173
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3463
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

1-2408013-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2408013
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2408013
    reference: chr 1
allele count: 2
allele frequency: 1.39217597104274e-4
allele num: 14366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.-15G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.44-1902G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000476436
  ensembl transcript: ENST00000609981
  gene symbol: PLCH2
  hgvsc: ENST00000609981.1:c.116-1902G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.-15G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.-15G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.-150G>A
  variant of: http://identifiers.org/hgnc/29037
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21875
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28910
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3703
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1244
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3194
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23538
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 1535
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3020
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 20636
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 1376
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 801
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  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum

1-2408016-TGTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2408016
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2408013
    reference: chr 1
allele count: 1
allele frequency: 6.513809275664408e-5
allele num: 15352
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.-8_-6delGTC
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.-8_-6delGTC
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000476436
  ensembl transcript: ENST00000609981
  gene symbol: PLCH2
  hgvsc: ENST00000609981.1:c.116-1895_116-1893delGTC
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.-143_-141delGTC
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.-8_-6delGTC
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.44-1895_44-1893delGTC
  variant of: http://identifiers.org/hgnc/29037
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30361
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3796
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20357
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19508
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2730
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1534
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2703
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25802
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 8.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: TGTC
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff

1-2408019-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2408019
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2408019
    reference: chr 1
allele count: 3
allele frequency: 1.902828872256755e-4
allele num: 15766
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.44-1896C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.-9C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.-9C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000476436
  ensembl transcript: ENST00000609981
  gene symbol: PLCH2
  hgvsc: ENST00000609981.1:c.116-1896C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.-9C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.-144C>T
  variant of: http://identifiers.org/hgnc/29037
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31427
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4153
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18864
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1684
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1519
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1501
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2584
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18185
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2691
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1134
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

1-2408020-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2408020
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2408020
    reference: chr 1
allele count: 6
allele frequency: 3.612281757977122e-4
allele num: 16610
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.44-1895G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.-8G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.-8G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.-143G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.-8G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000476436
  ensembl transcript: ENST00000609981
  gene symbol: PLCH2
  hgvsc: ENST00000609981.1:c.116-1895G>A
  variant of: http://identifiers.org/hgnc/29037
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18252
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31890
  bin: 7.5e0
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4256
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2446
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1631
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1219
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3263
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26924
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1244
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17558
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 7.25e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

1-2408036-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2408036
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2408035
    reference: chr 1
allele count: 1
allele frequency: 4.073319755600814e-5
allele num: 24550
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.-125delC
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.11delC
  hgvsp: ENSP00000367749.3:p.Pro4HisfsTer53
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.11delC
  hgvsp: ENSP00000367747.3:p.Pro4HisfsTer53
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000476436
  ensembl transcript: ENST00000609981
  gene symbol: PLCH2
  hgvsc: ENST00000609981.1:c.116-1877delC
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.11delC
  hgvsp: ENSP00000389803.2:p.Pro4HisfsTer53
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.44-1877delC
  variant of: http://identifiers.org/hgnc/29037
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5983
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35489
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11027
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3213
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10774
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2150
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1758
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31422
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3542
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3149
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro4HisfsTer53
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: TC
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ
site quality: ClippingRankSum

1-2408043-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2408043
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2408043
    reference: chr 1
allele count: 1
allele frequency: 3.455425017277125e-5
allele num: 28940
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.16C>T
  hgvsp: ENSP00000367747.3:p.Pro6Ser
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.-120C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000476436
  ensembl transcript: ENST00000609981
  gene symbol: PLCH2
  hgvsc: ENST00000609981.1:c.116-1872C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.16C>T
  hgvsp: ENSP00000389803.2:p.Pro6Ser
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.16C>T
  hgvsp: ENSP00000367749.3:p.Pro6Ser
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.44-1872C>T
  variant of: http://identifiers.org/hgnc/29037
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8857
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6820
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35450
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4107
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2095
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8768
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3104
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32179
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1612
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro6Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-2408045-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2408045
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2408045
    reference: chr 1
allele count: 86
allele frequency: 2.7720474471377e-3
allele num: 31024
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.-118C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000476436
  ensembl transcript: ENST00000609981
  gene symbol: PLCH2
  hgvsc: ENST00000609981.1:c.116-1870C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.18C>T
  hgvsp: ENST00000419816.2:c.18C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.18C>T
  hgvsp: ENST00000378486.3:c.18C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.44-1870C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.18C>T
  hgvsp: ENST00000378488.3:c.18C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29037
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4475
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6974
  bin: 1.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 35418
  bin: 7.5e0
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8151
  bin: 2.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 8.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1438
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2502
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2463
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32935
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 8.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro6Pro
num of homozygotes: 2
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-2408047-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2408047
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2408047
    reference: chr 1
allele count: 1
allele frequency: 3.072574202666994e-5
allele num: 32546
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.20C>T
  hgvsp: ENSP00000367747.3:p.Ser7Phe
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.44-1868C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.-116C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000476436
  ensembl transcript: ENST00000609981
  gene symbol: PLCH2
  hgvsc: ENST00000609981.1:c.116-1868C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.20C>T
  hgvsp: ENSP00000389803.2:p.Ser7Phe
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.20C>T
  hgvsp: ENSP00000367749.3:p.Ser7Phe
  variant of: http://identifiers.org/hgnc/29037
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4873
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7487
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35175
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7244
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2307
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1097
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7442
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2516
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32453
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1461
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser7Phe
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff

1-2408051-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2408051
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2408051
    reference: chr 1
allele count: 3
allele frequency: 8.33101916134407e-5
allele num: 36010
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.24C>T
  hgvsp: ENST00000378488.3:c.24C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.24C>T
  hgvsp: ENST00000419816.2:c.24C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.24C>T
  hgvsp: ENST00000378486.3:c.24C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.-112C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000476436
  ensembl transcript: ENST00000609981
  gene symbol: PLCH2
  hgvsc: ENST00000609981.1:c.116-1864C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.44-1864C>T
  variant of: http://identifiers.org/hgnc/29037
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5962
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34670
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7537
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6263
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1832
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1916
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6323
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1225
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro8Pro
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

1-2408052-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2408052
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2408052
    reference: chr 1
allele count: 3
allele frequency: 7.944494465335522e-5
allele num: 37762
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.44-1863G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.25G>A
  hgvsp: ENSP00000389803.2:p.Asp9Asn
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.25G>A
  hgvsp: ENSP00000367749.3:p.Asp9Asn
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.-111G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.25G>A
  hgvsp: ENSP00000367747.3:p.Asp9Asn
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000476436
  ensembl transcript: ENST00000609981
  gene symbol: PLCH2
  hgvsc: ENST00000609981.1:c.116-1863G>A
  variant of: http://identifiers.org/hgnc/29037
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6580
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7538
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34456
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1880
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5783
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2455
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1112
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1658
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2541
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33295
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6948
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1285
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asp9Asn
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum

1-2408058-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2408058
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2408058
    reference: chr 1
allele count: 8
allele frequency: 1.770224818551956e-4
allele num: 45192
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000476436
  ensembl transcript: ENST00000609981
  gene symbol: PLCH2
  hgvsc: ENST00000609981.1:c.116-1857C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.31C>T
  hgvsp: ENSP00000367747.3:p.Arg11Trp
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.31C>T
  hgvsp: ENSP00000367749.3:p.Arg11Trp
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.31C>T
  hgvsp: ENSP00000389803.2:p.Arg11Trp
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.-105C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.44-1857C>T
  variant of: http://identifiers.org/hgnc/29037
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32520
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4020
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9752
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2071
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7669
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32555
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2485
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2567
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4125
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1005
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg11Trp
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

1-2408059-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2408059
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2408059
    reference: chr 1
allele count: 7
allele frequency: 1.490503364279022e-4
allele num: 46964
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.32G>A
  hgvsp: ENSP00000367749.3:p.Arg11Gln
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.-104G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.32G>A
  hgvsp: ENSP00000389803.2:p.Arg11Gln
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000476436
  ensembl transcript: ENST00000609981
  gene symbol: PLCH2
  hgvsc: ENST00000609981.1:c.116-1856G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.32G>A
  hgvsp: ENSP00000367747.3:p.Arg11Gln
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.44-1856G>A
  variant of: http://identifiers.org/hgnc/29037
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31950
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7634
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3669
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10470
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3773
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1080
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1362
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg11Gln
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum

1-2408066-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2408066
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2408066
    reference: chr 1
allele count: 2
allele frequency: 3.557452863749556e-5
allele num: 56220
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.44-1849G>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.39G>C
  hgvsp: ENSP00000389803.2:p.Lys13Asn
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.-97G>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.39G>C
  hgvsp: ENSP00000367747.3:p.Lys13Asn
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.39G>C
  hgvsp: ENSP00000367749.3:p.Lys13Asn
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000476436
  ensembl transcript: ENST00000609981
  gene symbol: PLCH2
  hgvsc: ENST00000609981.1:c.116-1849G>C
  variant of: http://identifiers.org/hgnc/29037
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2449
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28870
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15013
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2650
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7068
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2405
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1313
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29525
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2362
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2582
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Lys13Asn
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP

1-2408067-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2408067
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2408067
    reference: chr 1
allele count: 2
allele frequency: 3.466444814198558e-5
allele num: 57696
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.40G>C
  hgvsp: ENSP00000367749.3:p.Gly14Arg
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.-96G>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.40G>C
  hgvsp: ENSP00000367747.3:p.Gly14Arg
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000476436
  ensembl transcript: ENST00000609981
  gene symbol: PLCH2
  hgvsc: ENST00000609981.1:c.116-1848G>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.44-1848G>C
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.40G>C
  hgvsp: ENSP00000389803.2:p.Gly14Arg
  variant of: http://identifiers.org/hgnc/29037
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2727
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6998
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2289
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15687
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28408
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1861
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2340
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2400
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16044
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1341
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly14Arg
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

1-2408071-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2408071
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2408071
    reference: chr 1
allele count: 9
allele frequency: 1.478269439243126e-4
allele num: 60882
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.44C>T
  hgvsp: ENSP00000367747.3:p.Thr15Met
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.44C>T
  hgvsp: ENSP00000367749.3:p.Thr15Met
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.44C>T
  hgvsp: ENSP00000389803.2:p.Thr15Met
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.-92C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.44-1844C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000476436
  ensembl transcript: ENST00000609981
  gene symbol: PLCH2
  hgvsc: ENST00000609981.1:c.116-1844C>T
  variant of: http://identifiers.org/hgnc/29037
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6780
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26892
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2939
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17325
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2011
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1291
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17357
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2175
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2285
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1388
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27761
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 5.25e1
  variant carriers: 1
hgvs: p.Thr15Met
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum

1-2408072-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2408072
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2408072
    reference: chr 1
allele count: 8
allele frequency: 1.273844782013312e-4
allele num: 62802
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.-91G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.44-1843G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.45G>A
  hgvsp: ENST00000419816.2:c.45G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.45G>A
  hgvsp: ENST00000378488.3:c.45G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.45G>A
  hgvsp: ENST00000378486.3:c.45G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000476436
  ensembl transcript: ENST00000609981
  gene symbol: PLCH2
  hgvsc: ENST00000609981.1:c.116-1843G>A
  variant of: http://identifiers.org/hgnc/29037
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6665
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18125
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3057
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2061
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1457
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18322
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2278
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27143
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr15Thr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

1-2408086-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2408086
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2408086
    reference: chr 1
allele count: 39
allele frequency: 5.32597711195477e-4
allele num: 73226
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.44-1829C>G
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.59C>G
  hgvsp: ENSP00000367749.3:p.Ala20Gly
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.59C>G
  hgvsp: ENSP00000389803.2:p.Ala20Gly
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000476436
  ensembl transcript: ENST00000609981
  gene symbol: PLCH2
  hgvsc: ENST00000609981.1:c.116-1829C>G
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.-77C>G
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.59C>G
  hgvsp: ENSP00000367747.3:p.Ala20Gly
  variant of: http://identifiers.org/hgnc/29037
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6570
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4589
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21954
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20173
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1956
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1822
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1647
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20874
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 9.75e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 1408
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 4.75e1
  variant carriers: 1
hgvs: p.Ala20Gly
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum

1-2408086-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2408086
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2408086
    reference: chr 1
allele count: 12
allele frequency: 1.638762188293776e-4
allele num: 73226
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.59C>T
  hgvsp: ENSP00000367747.3:p.Ala20Val
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.59C>T
  hgvsp: ENSP00000367749.3:p.Ala20Val
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.44-1829C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.59C>T
  hgvsp: ENSP00000389803.2:p.Ala20Val
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000476436
  ensembl transcript: ENST00000609981
  gene symbol: PLCH2
  hgvsc: ENST00000609981.1:c.116-1829C>T
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.-77C>T
  variant of: http://identifiers.org/hgnc/29037
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21954
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6570
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4589
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20173
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1408
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20874
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1822
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2038
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22379
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala20Val
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

1-2408087-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2408087
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2408087
    reference: chr 1
allele count: 7
allele frequency: 9.046031376805975e-5
allele num: 77382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367747
  ensembl transcript: ENST00000378486
  gene symbol: PLCH2
  hgvsc: ENST00000378486.3:c.60G>A
  hgvsp: ENST00000378486.3:c.60G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.60G>A
  hgvsp: ENST00000419816.2:c.60G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000476436
  ensembl transcript: ENST00000609981
  gene symbol: PLCH2
  hgvsc: ENST00000609981.1:c.116-1828G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000397289
  ensembl transcript: ENST00000449969
  gene symbol: PLCH2
  hgvsc: ENST00000449969.1:c.44-1828G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.-76G>A
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.60G>A
  hgvsp: ENST00000378488.3:c.60G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29037
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19410
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23068
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6258
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4771
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1032
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1676
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1285
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24426
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala20Ala
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

1-2408089-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2408089
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2408089
    reference: chr 1
allele count: 40
allele frequency: 5.063291139240507e-4
allele num: 79000
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000367749
  ensembl transcript: ENST00000378488
  gene symbol: PLCH2
  hgvsc: ENST00000378488.3:c.62A>G
  hgvsp: ENSP00000367749.3:p.Glu21Gly
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000389803
  ensembl transcript: ENST00000419816
  gene symbol: PLCH2
  hgvsc: ENST00000419816.2:c.62A>G
  hgvsp: ENSP00000389803.2:p.Glu21Gly
  variant of: http://identifiers.org/hgnc/29037
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149527
  ensembl protein: ENSP00000288766
  ensembl transcript: ENST00000288766
  gene symbol: PLCH2
  hgvsc: ENST00000288766.5:c.-74A>G
  variant of: http://identifiers.org/hgnc/29037
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
hgvs: p.Glu21Gly
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 782
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1512
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 591
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 732
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 527
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5289
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1376
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7708
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11580
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4857
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1105
bin: 4.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.082485386447283e-4
allele num: 9238
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5740
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7870
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60158
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14984
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

DP
type: SiteQuality
SIO_000300: 1.443649e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.37e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.674e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.1e-2

QD
type: SiteQuality
SIO_000300: 1.165e1

GenotypeQuality
all individuals: 2198
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8727
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1162
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1074
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6416
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 965
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2092
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14608
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8924
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9834
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.718803712616019e-5
allele num: 58180
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7578
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5498
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.37421e6

MQRankSum
type: SiteQuality
SIO_000300: -9.57e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.23e-1

FS
type: SiteQuality
SIO_000300: 5.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.76e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.392e0

QD
type: SiteQuality
SIO_000300: 1.155e1

GenotypeQuality
all individuals: 1404
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5725
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1299
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2226
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10775
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 622
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 774
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3575
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2644
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5204
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55274
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7064
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.550295857988166e-4
allele num: 8450
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14170
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 746
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9152
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.321e1

MQRankSum
type: SiteQuality
SIO_000300: -5.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.84e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.511e0

DP
type: SiteQuality
SIO_000300: 1.341562e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.9e-3

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

GenotypeQuality
all individuals: 4101
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 762
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1670
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 575
bin: 9.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7466
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 96
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2746
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 204
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 146
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.75231e5

FS
type: SiteQuality
SIO_000300: 4.645e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.53e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.06e-1

QD
type: SiteQuality
SIO_000300: 7.14e0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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variant carriers: 39

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 418
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 363
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 27
allele frequency: 9.832483612527313e-3
allele num: 2746
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 204
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.041666666666667e-2
allele num: 96
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 146
num of homozygotes: 0

South Asian
type: Population
allele count: 12
allele frequency: 1.6008537886873e-3
allele num: 7496
num of homozygotes: 3

Other
type: Population
allele count: 2
allele frequency: 1.694915254237288e-2
allele num: 118
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.64e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.51e0

VQSLOD
type: SiteQuality
SIO_000300: 4.73e0

QD
type: SiteQuality
SIO_000300: 1.548e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-2

DP
type: SiteQuality
SIO_000300: 1.7602e5

GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 96
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7500
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 3.641660597232338e-4
allele num: 2746
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 204
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 146
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.503e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.19e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.69e0

DP
type: SiteQuality
SIO_000300: 1.75759e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.16e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2740
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 142
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South Asian
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allele count: 2
allele frequency: 2.665955745134631e-4
allele num: 7502
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 94
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.038e0

VQSLOD
type: SiteQuality
SIO_000300: -2.324e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.23e-2

MQ
type: SiteQuality
SIO_000300: 5.957e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.422e0

FS
type: SiteQuality
SIO_000300: 3.955e0

MQRankSum
type: SiteQuality
SIO_000300: 1.8e-2

DP
type: SiteQuality
SIO_000300: 1.7541e5

QD
type: SiteQuality
SIO_000300: 1.782e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.86e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 7

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 138
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.332622601279318e-4
allele num: 7504
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 2.199413489736071e-3
allele num: 2728
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.5e-1

FS
type: SiteQuality
SIO_000300: 1.988e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.52e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

DP
type: SiteQuality
SIO_000300: 1.74412e5

QD
type: SiteQuality
SIO_000300: 1.49e1

VQSLOD
type: SiteQuality
SIO_000300: 2.01e0

MQRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -9.66e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 5.154639175257732e-3
allele num: 194
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 136
num of homozygotes: 0

European (Non-Finnish)
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allele count: 18
allele frequency: 6.593406593406593e-3
allele num: 2730
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
type: Population
allele count: 17
allele frequency: 2.264854782840394e-3
allele num: 7506
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.445e0

MQRankSum
type: SiteQuality
SIO_000300: 1.63e-1

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

FS
type: SiteQuality
SIO_000300: 5.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.88e-2

DP
type: SiteQuality
SIO_000300: 1.73677e5

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 92
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 134
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.332267519317879e-4
allele num: 7506
num of homozygotes: 0

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

Other
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allele num: 118
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.70967e5

MQ
type: SiteQuality
SIO_000300: 5.87e1

MQRankSum
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InbreedingCoeff
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GenotypeQuality
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variant carriers: 0

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

East Asian
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Other
type: Population
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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: NaN
allele num: 0
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2722
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.18e-2

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

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
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South Asian
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allele frequency: 1.372235544897415e-2
allele num: 7506
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Other
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 2706
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 134
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Latino
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allele frequency: 0.0e0
allele num: 92
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QD
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.31e-1

DP
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2698
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

South Asian
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allele frequency: 3.2e-3
allele num: 7500
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East Asian
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allele frequency: 0.0e0
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African
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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FS
type: SiteQuality
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ClippingRankSum
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QD
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BaseQRankSum
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DP
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SIO_000300: 1.69372e5

MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.8e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.98e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.38e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.1063e4

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.26e-2

MQ
type: SiteQuality
SIO_000300: 5.572e1

GenotypeQuality
all individuals: 207
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 88
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1720
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 456
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.29e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.75e0

QD
type: SiteQuality
SIO_000300: 1.044e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.16466e5

VQSLOD
type: SiteQuality
SIO_000300: -1.639e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 154
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 300
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3218
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1588
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.94e-2

DP
type: SiteQuality
SIO_000300: 2.04465e5

VQSLOD
type: SiteQuality
SIO_000300: 2.05e0

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

QD
type: SiteQuality
SIO_000300: 1.572e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 1
allele frequency: 3.028467595396729e-4
allele num: 3302
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 68
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 318
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1706
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 160
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.387e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.850000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.18e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.763e0

DP
type: SiteQuality
SIO_000300: 2.10727e5

FS
type: SiteQuality
SIO_000300: 4.06e0

MQRankSum
type: SiteQuality
SIO_000300: 2.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.794e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.62e-1

MQ
type: SiteQuality
SIO_000300: 5.843e1

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

GenotypeQuality
all individuals: 11
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1381
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1376
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 232
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 204
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 364
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 6.042296072507553e-4
allele num: 3310
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.13347022587269e-4
allele num: 1948
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.23e0

VQSLOD
type: SiteQuality
SIO_000300: -1.537e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.4e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.805e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.46e-1

DP
type: SiteQuality
SIO_000300: 2.11228e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.87e-2

GenotypeQuality
all individuals: 68
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1150
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1215
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 12333
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 38
bin: 5.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1932
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3198
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.808988764044944e-3
allele num: 356
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 5.208333333333333e-3
allele num: 192
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.96e-2

DP
type: SiteQuality
SIO_000300: 2.07419e5

VQSLOD
type: SiteQuality
SIO_000300: -1.867e0

MQRankSum
type: SiteQuality
SIO_000300: -5.51e-1

MQ
type: SiteQuality
SIO_000300: 5.833e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.55e-1

QD
type: SiteQuality
SIO_000300: 6.74e0

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25938
bin: 7.5e0
variant carriers: 3

GenotypeQuality
all individuals: 282
bin: 2.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 94
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 44
bin: 6.75e1
variant carriers: 3

South Asian
type: Population
allele count: 5
allele frequency: 1.736111111111111e-3
allele num: 2880
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52
num of homozygotes: 0

East Asian
type: Population
allele count: 10
allele frequency: 3.125e-2
allele num: 320
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 172
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1796
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 228
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.71e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.06e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

QD
type: SiteQuality
SIO_000300: 1.074e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
type: SiteQuality
SIO_000300: 1.91305e5

BaseQRankSum
type: SiteQuality
SIO_000300: -2.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.74e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 562
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
all individuals: 2
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GenotypeQuality
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GenotypeQuality
all individuals: 25
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 479
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 150
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 160
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 282
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.172839506172839e-4
allele num: 1620
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.858e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.42e-2

QD
type: SiteQuality
SIO_000300: 2.251e1

FS
type: SiteQuality
SIO_000300: 4.467e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

DP
type: SiteQuality
SIO_000300: 1.69908e5

GenotypeQuality
all individuals: 135
bin: 6.25e1
variant carriers: 11

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 4

GenotypeQuality
all individuals: 757
bin: 1.75e1
variant carriers: 7

GenotypeQuality
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bin: 7.25e1
variant carriers: 7

GenotypeQuality
all individuals: 35
bin: 9.75e1
variant carriers: 35

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 8

GenotypeQuality
all individuals: 2
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variant carriers: 2

GenotypeQuality
all individuals: 50
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 4

European (Non-Finnish)
type: Population
allele count: 25
allele frequency: 2.133105802047782e-2
allele num: 1172
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 1.530612244897959e-2
allele num: 196
num of homozygotes: 1

Latino
type: Population
allele count: 1
allele frequency: 1.020408163265306e-2
allele num: 98
num of homozygotes: 0

South Asian
type: Population
allele count: 32
allele frequency: 1.64778578784758e-2
allele num: 1942
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 100
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

QD
type: SiteQuality
SIO_000300: 8.49e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.66e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -4.622e-1

FS
type: SiteQuality
SIO_000300: 6.1e0

DP
type: SiteQuality
SIO_000300: 1.33377e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24329
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GenotypeQuality
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GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1872
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GenotypeQuality
all individuals: 10
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GenotypeQuality
all individuals: 5687
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GenotypeQuality
all individuals: 50
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 90
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1102
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 96
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1884
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.017e0

QD
type: SiteQuality
SIO_000300: 1.886e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.30465e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.85e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.2e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.72e-1

GenotypeQuality
all individuals: 227
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 1

GenotypeQuality
all individuals: 660
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variant carriers: 0

GenotypeQuality
all individuals: 0
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GenotypeQuality
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GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 4
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GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 86
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1096
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 5.470459518599562e-4
allele num: 1828
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.27e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e0

FS
type: SiteQuality
SIO_000300: 1.455e0

DP
type: SiteQuality
SIO_000300: 1.30239e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.311e0

QD
type: SiteQuality
SIO_000300: 6.13e0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2014
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 66
bin: 6.25e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 78
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 156
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 78
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1634
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.4e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.48e-1

DP
type: SiteQuality
SIO_000300: 1.18558e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.52e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.26e0

GenotypeQuality
all individuals: 2177
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 6.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 74
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 146
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 76
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.599999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.589e0

MQ
type: SiteQuality
SIO_000300: 5.257e1

VQSLOD
type: SiteQuality
SIO_000300: -7.659e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.59e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e0

QD
type: SiteQuality
SIO_000300: 9.08e0

DP
type: SiteQuality
SIO_000300: 1.1646e5

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

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 298
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.73e-2

DP
type: SiteQuality
SIO_000300: 8.3178e4

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

QD
type: SiteQuality
SIO_000300: 1.142e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.92e0

GenotypeQuality
all individuals: 878
bin: 2.25e1
variant carriers: 1

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 442
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.061e-1

DP
type: SiteQuality
SIO_000300: 6.9438e4

QD
type: SiteQuality
SIO_000300: 1.063e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.09e0

MQ
type: SiteQuality
SIO_000300: 5.395e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 226
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.24e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.132e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.837e1

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

FS
type: SiteQuality
SIO_000300: 1.976e0

DP
type: SiteQuality
SIO_000300: 6.7131e4

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

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

Latino
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.4e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.115e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.4437e4

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.295e1

Latino
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.5e-1
allele num: 8
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 5.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-2

DP
type: SiteQuality
SIO_000300: 1.138e4

FS
type: SiteQuality
SIO_000300: 2.679e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.704e1

Latino
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

QD
type: SiteQuality
SIO_000300: 9.960000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.082e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

MQ
type: SiteQuality
SIO_000300: 5.705e1

VQSLOD
type: SiteQuality
SIO_000300: 1.66e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.103e4

MQRankSum
type: SiteQuality
SIO_000300: 1.77e0

Latino
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 1.0e0
allele num: 2
num of homozygotes: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 3.333333333333333e-1
allele num: 12
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.77e0

QD
type: SiteQuality
SIO_000300: 2.187e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

DP
type: SiteQuality
SIO_000300: 9.551e3

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.598e-1

FS
type: SiteQuality
SIO_000300: 2.45e0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.25e-1
allele num: 8
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.333333333333333e-1
allele num: 6
num of homozygotes: 1

MQ
type: SiteQuality
SIO_000300: 4.036e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

FS
type: SiteQuality
SIO_000300: 6.68e0

DP
type: SiteQuality
SIO_000300: 7.145e3

VQSLOD
type: SiteQuality
SIO_000300: -5.818e-1

QD
type: SiteQuality
SIO_000300: 4.21e0

MQRankSum
type: SiteQuality
SIO_000300: -1.026e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.11e-2

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.78e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 6.25e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.56e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.38e0

MQ
type: SiteQuality
SIO_000300: 5.344e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.2086e4

Latino
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.4419e4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.08e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.56e-1

FS
type: SiteQuality
SIO_000300: 1.364e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.195e0

MQRankSum
type: SiteQuality
SIO_000300: 7.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.1e-2

QD
type: SiteQuality
SIO_000300: 1.247e1

Latino
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.4785e4

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.025e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.989999999999999e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.52e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

Other
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 3.75e-1
allele num: 8
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 1.0e0
allele num: 2
num of homozygotes: 1

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.139e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.321e1

QD
type: SiteQuality
SIO_000300: 2.13e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.6773e4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.7e-1

Other
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.38e-1

BaseQRankSum
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QD
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InbreedingCoeff
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SIO_000300: -8.56e-2

MQRankSum
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SIO_000300: -5.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.18e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.593e-1

MQ
type: SiteQuality
SIO_000300: 5.911e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

European (Finnish)
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allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

African
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allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Other
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allele frequency: NaN
allele num: 0
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VQSLOD
type: SiteQuality
SIO_000300: -2.511e-1

BaseQRankSum
type: SiteQuality
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QD
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DP
type: SiteQuality
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FS
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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European (Finnish)
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allele frequency: 1.0e0
allele num: 2
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South Asian
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allele frequency: 5.0e-1
allele num: 2
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Other
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allele frequency: NaN
allele num: 0
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Latino
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allele frequency: NaN
allele num: 0
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African
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allele count: 0
allele frequency: NaN
allele num: 0
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European (Non-Finnish)
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allele count: 3
allele frequency: 3.75e-1
allele num: 8
num of homozygotes: 0

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.629999999999999e-1

MQ
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DP
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SIO_000300: 1.5138e4

VQSLOD
type: SiteQuality
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ClippingRankSum
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SIO_000300: 1.26e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 74
num of homozygotes: 0

South Asian
type: Population
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allele frequency: 0.0e0
allele num: 1174
num of homozygotes: 0

Latino
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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
allele num: 612
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African
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allele frequency: 0.0e0
allele num: 1842
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 6902
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European (Finnish)
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allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

QD
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ClippingRankSum
type: SiteQuality
SIO_000300: 7.2e-1

InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -7.2e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 29

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

Other
type: Population
allele count: 2
allele frequency: 2.702702702702703e-2
allele num: 74
num of homozygotes: 0

Latino
type: Population
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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: 3.365384615384615e-2
allele num: 208
num of homozygotes: 0

European (Non-Finnish)
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allele count: 18
allele frequency: 2.60266049739734e-3
allele num: 6916
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 1192
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African
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allele frequency: 5.399568034557236e-4
allele num: 1852
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.47781e5

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.12e-2

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.843e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQRankSum
type: SiteQuality
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VQSLOD
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SIO_000300: 2.45e0

MQ
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SIO_000300: 6.0e1

QD
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SIO_000300: 1.363e1

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 9

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 2

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 466
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 1856
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 610
num of homozygotes: 0

European (Non-Finnish)
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allele count: 6
allele frequency: 8.670520231213873e-4
allele num: 6920
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 72
num of homozygotes: 0

European (Finnish)
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allele count: 5
allele frequency: 2.403846153846154e-2
allele num: 208
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1194
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.66e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

DP
type: SiteQuality
SIO_000300: 3.48106e5

FS
type: SiteQuality
SIO_000300: 4.075e0

QD
type: SiteQuality
SIO_000300: 1.52e1

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.703e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 216
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 1880
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East Asian
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allele frequency: 0.0e0
allele num: 656
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Other
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allele frequency: 0.0e0
allele num: 80
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1326
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 488
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European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.78473962684489e-4
allele num: 7182
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.48e-1

QD
type: SiteQuality
SIO_000300: 9.67e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

FS
type: SiteQuality
SIO_000300: 5.092e0

MQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.88e-2

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
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DP
type: SiteQuality
SIO_000300: 3.7238e5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 228
num of homozygotes: 0

East Asian
type: Population
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allele frequency: 0.0e0
allele num: 640
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Other
type: Population
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allele frequency: 0.0e0
allele num: 80
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 492
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African
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allele frequency: 0.0e0
allele num: 1882
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 7196
num of homozygotes: 0

South Asian
type: Population
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allele frequency: 0.0e0
allele num: 1328
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DP
type: SiteQuality
SIO_000300: 3.74853e5

InbreedingCoeff
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FS
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VQSLOD
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QD
type: SiteQuality
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MQ
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

South Asian
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East Asian
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allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
allele num: 84
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European (Finnish)
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allele frequency: 0.0e0
allele num: 242
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Latino
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allele frequency: 0.0e0
allele num: 508
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 1900
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European (Non-Finnish)
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allele count: 3
allele frequency: 4.071661237785016e-4
allele num: 7368
num of homozygotes: 0

FS
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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MQ
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ReadPosRankSum
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VQSLOD
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DP
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QD
type: SiteQuality
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 506
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European (Finnish)
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allele frequency: 0.0e0
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Other
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South Asian
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African
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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MQRankSum
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QD
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MQ
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BaseQRankSum
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DP
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

European (Non-Finnish)
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allele num: 7620
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South Asian
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African
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Other
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Latino
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European (Finnish)
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allele num: 256
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East Asian
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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FS
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QD
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MQ
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DP
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Latino
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Other
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East Asian
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 7808
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South Asian
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QD
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ClippingRankSum
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InbreedingCoeff
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DP
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FS
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MQ
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 291
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.265822784810127e-4
allele num: 7900
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1758
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1942
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 574
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 218
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 88
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.43e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.14e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.857e0

DP
type: SiteQuality
SIO_000300: 4.11039e5

BaseQRankSum
type: SiteQuality
SIO_000300: -6.46e-1

MQ
type: SiteQuality
SIO_000300: 5.797e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.41e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.264e1

MQRankSum
type: SiteQuality
SIO_000300: -1.681e0

GenotypeQuality
all individuals: 96
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7978
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 90
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1948
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1764
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 592
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 222
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.14237e5

ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

QD
type: SiteQuality
SIO_000300: 7.99e0

FS
type: SiteQuality
SIO_000300: 2.963e0

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.39e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

VQSLOD
type: SiteQuality
SIO_000300: -9.147e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1072
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1072
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 94
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 218
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1918
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 624
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8156
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1960
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

QD
type: SiteQuality
SIO_000300: 1.365e1

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.62e-2

FS
type: SiteQuality
SIO_000300: 4.949e0

DP
type: SiteQuality
SIO_000300: 4.22873e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 8.5e-1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.75e1
variant carriers: 3

GenotypeQuality
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bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1072
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 5.75e1
variant carriers: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1960
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.226091221186856e-4
allele num: 8156
num of homozygotes: 0

South Asian
type: Population
allele count: 22
allele frequency: 1.147028154327424e-2
allele num: 1918
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 218
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 624
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.127659574468085e-2
allele num: 94
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 4.949e0

DP
type: SiteQuality
SIO_000300: 4.22873e5

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.62e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.365e1

GenotypeQuality
all individuals: 148
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.370229912301493e-4
allele num: 8438
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 96
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 236
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2096
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2014
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 640
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

QD
type: SiteQuality
SIO_000300: 1.197e1

DP
type: SiteQuality
SIO_000300: 4.28847e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.15e-2

FS
type: SiteQuality
SIO_000300: 8.895e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.98e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.282e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.0e-1

GenotypeQuality
all individuals: 188
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1471
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 801
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 160
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variant carriers: 0

GenotypeQuality
all individuals: 1164
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.112347052280312e-4
allele num: 8990
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 692
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2060
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2300
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 284
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 918
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 108
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.57e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

QD
type: SiteQuality
SIO_000300: 1.766e1

VQSLOD
type: SiteQuality
SIO_000300: 1.81e0

DP
type: SiteQuality
SIO_000300: 4.42235e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.59e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.67e-1

MQ
type: SiteQuality
SIO_000300: 5.7e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.78e-2

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
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variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
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variant carriers: 1

GenotypeQuality
all individuals: 26757
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variant carriers: 0

GenotypeQuality
all individuals: 160
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variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 702
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 948
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2392
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 110
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2098
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 270
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 3.244646333549643e-4
allele num: 9246
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.418e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.43e-1

FS
type: SiteQuality
SIO_000300: 1.212e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.78e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.31e-1

DP
type: SiteQuality
SIO_000300: 4.56355e5

ClippingRankSum
type: SiteQuality
SIO_000300: -5.8e-2

GenotypeQuality
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bin: 4.75e1
variant carriers: 5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 807
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variant carriers: 8

GenotypeQuality
all individuals: 1714
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GenotypeQuality
all individuals: 112
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 126
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2182
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1014
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 298
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 5.178127589063795e-4
allele num: 9656
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 750
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 3.869969040247678e-4
allele num: 2584
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.62325e5

QD
type: SiteQuality
SIO_000300: 1.373e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.99e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.55e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 224
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variant carriers: 0

GenotypeQuality
all individuals: 803
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1258
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 514
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1606
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13898
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2690
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 2.273760800363802e-4
allele num: 4398
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.43e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.24e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.3e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.945e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.43e-2

QD
type: SiteQuality
SIO_000300: 1.502e1

DP
type: SiteQuality
SIO_000300: 5.46696e5

MQ
type: SiteQuality
SIO_000300: 5.951e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.12e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2362
bin: 2.75e1
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GenotypeQuality
all individuals: 150
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1912
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1634
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3012
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.160670280926565e-5
allele num: 16232
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5250
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 694
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.12e-2

QD
type: SiteQuality
SIO_000300: 1.104e1

DP
type: SiteQuality
SIO_000300: 5.83958e5

MQRankSum
type: SiteQuality
SIO_000300: -3.17e-1

FS
type: SiteQuality
SIO_000300: 8.053000000000001e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e-1

GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 154
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GenotypeQuality
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variant carriers: 96

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 629
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4736
bin: 6.25e1
variant carriers: 6

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17272
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2054
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 1.689189189189189e-3
allele num: 1776
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 214
num of homozygotes: 0

African
type: Population
allele count: 83
allele frequency: 2.626582278481013e-2
allele num: 3160
num of homozygotes: 2

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5778
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.52e-2

QD
type: SiteQuality
SIO_000300: 1.483e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

DP
type: SiteQuality
SIO_000300: 5.98873e5

VQSLOD
type: SiteQuality
SIO_000300: 5.78e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

GenotypeQuality
all individuals: 2878
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 817
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4858
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 106
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 654
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 234
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2148
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.536485439043296e-5
allele num: 18062
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3280
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6104
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1900
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.203e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.754e0

MQRankSum
type: SiteQuality
SIO_000300: 1.84e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.830000000000001e-1

QD
type: SiteQuality
SIO_000300: 9.52e0

DP
type: SiteQuality
SIO_000300: 6.12814e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -5.376e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.88e-2

GenotypeQuality
all individuals: 2409
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6307
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 749
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 33217
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2549
bin: 2.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 952
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 254
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2168
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3482
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.00150225338007e-4
allele num: 19970
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.470155836518671e-4
allele num: 6802
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.4e-1

QD
type: SiteQuality
SIO_000300: 1.248e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.51e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.25e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-2

DP
type: SiteQuality
SIO_000300: 6.43192e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 501
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5821
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 782
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 819
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 152
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 172
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 1.428571428571429e-4
allele num: 21000
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2270
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2504
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 268
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7142
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 982
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.57e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.96e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.56132e5

ClippingRankSum
type: SiteQuality
SIO_000300: 2.78e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.77e0

QD
type: SiteQuality
SIO_000300: 1.621e1

MQRankSum
type: SiteQuality
SIO_000300: 4.28e-1

GenotypeQuality
all individuals: 192
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 825
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 469
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 10239
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 511
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8314
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4026
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 7.067137809187279e-4
allele num: 2830
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 318
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 1.969744721084147e-4
allele num: 25384
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3024
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 7.716049382716049e-4
allele num: 1296
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.77e-1

QD
type: SiteQuality
SIO_000300: 1.102e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.23e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.51e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.06e0

DP
type: SiteQuality
SIO_000300: 7.19957e5

BaseQRankSum
type: SiteQuality
SIO_000300: 4.7e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.44e-1

GenotypeQuality
all individuals: 31990
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 718
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2485
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 474
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10772
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2534
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 825
bin: 9.75e1
variant carriers: 7

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1338
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.164686699277894e-4
allele num: 8586
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4128
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 2.267573696145125e-4
allele num: 26460
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3140
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2970
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 342
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.22e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.32e0

VQSLOD
type: SiteQuality
SIO_000300: 7.7e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.35546e5

QD
type: SiteQuality
SIO_000300: 1.079e1

FS
type: SiteQuality
SIO_000300: 7.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.45e-1

GenotypeQuality
all individuals: 819
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 556
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1306
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15038
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 726
bin: 1.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4716
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.049180327868852e-4
allele num: 9760
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3774
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1674
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3788
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32102
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 406
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.633e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.54e-1

FS
type: SiteQuality
SIO_000300: 5.143e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.999999999999999e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.909e0

VQSLOD
type: SiteQuality
SIO_000300: 9.8e-2

MQ
type: SiteQuality
SIO_000300: 5.95e1

MQRankSum
type: SiteQuality
SIO_000300: -1.5e-1

DP
type: SiteQuality
SIO_000300: 8.12761e5

GenotypeQuality
all individuals: 115
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 435
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29242
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1298
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2367
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.016535591853196e-4
allele num: 9918
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 418
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32976
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1740
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3898
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4826
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3920
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.949e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.05e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.500000000000001e-3

DP
type: SiteQuality
SIO_000300: 8.24107e5

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.698e1

MQRankSum
type: SiteQuality
SIO_000300: 9.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.45e-1

GenotypeQuality
all individuals: 460
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 600
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 824
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 352
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2306
bin: 2.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 2.923406743324888e-4
allele num: 10262
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5038
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 440
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.388915432393693e-4
allele num: 4186
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1900
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4174
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 1.433404047933031e-4
allele num: 34882
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.54993e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.95e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.960000000000001e0

FS
type: SiteQuality
SIO_000300: 6.257e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.82e-1

GenotypeQuality
all individuals: 492
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2267
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1267
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 824
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 476
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 228
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 618
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1944
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 454
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 1.391465677179963e-3
allele num: 4312
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5176
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.772694504519492e-5
allele num: 36066
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.560229445506692e-5
allele num: 10460
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.41e-1

DP
type: SiteQuality
SIO_000300: 8.69645e5

ClippingRankSum
type: SiteQuality
SIO_000300: 6.830000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.354e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.25e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

FS
type: SiteQuality
SIO_000300: 9.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.65e-1

MQ
type: SiteQuality
SIO_000300: 5.928e1

GenotypeQuality
all individuals: 1305
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 605
bin: 1.25e1
variant carriers: 2

GenotypeQuality
all individuals: 403
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2038
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22379
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 215
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 468
bin: 7.25e1
variant carriers: 3

GenotypeQuality
all individuals: 627
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 28
allele frequency: 6.620011348590884e-4
allele num: 42296
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5224
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5798
num of homozygotes: 0

African
type: Population
allele count: 11
allele frequency: 1.959387246170289e-3
allele num: 5614
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2156
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.787e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.09e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.001e1

QD
type: SiteQuality
SIO_000300: 2.14e0

MQRankSum
type: SiteQuality
SIO_000300: -2.346e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.687e0

MQ
type: SiteQuality
SIO_000300: 5.48e1

FS
type: SiteQuality
SIO_000300: 7.2629e1

DP
type: SiteQuality
SIO_000300: 9.9853e5

ClippingRankSum
type: SiteQuality
SIO_000300: 4.36e0

GenotypeQuality
all individuals: 813
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 1305
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 891
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 627
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1647
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1956
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 9.457159069415548e-5
allele num: 42296
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2156
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 6.881128505074832e-4
allele num: 11626
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5224
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5798
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.346e0

FS
type: SiteQuality
SIO_000300: 7.2629e1

DP
type: SiteQuality
SIO_000300: 9.9853e5

ClippingRankSum
type: SiteQuality
SIO_000300: 4.36e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.787e0

QD
type: SiteQuality
SIO_000300: 2.14e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.09e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.687e0

VQSLOD
type: SiteQuality
SIO_000300: -3.001e1

MQ
type: SiteQuality
SIO_000300: 5.48e1

GenotypeQuality
all individuals: 2090
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1865
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20613
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1995
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 560
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 749
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.641497045305318e-4
allele num: 6092
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5496
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 550
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6152
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.692047377326565e-4
allele num: 11820
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 8.946544397226571e-5
allele num: 44710
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.36e-1

QD
type: SiteQuality
SIO_000300: 1.242e1

FS
type: SiteQuality
SIO_000300: 5.5e-1

DP
type: SiteQuality
SIO_000300: 1.009119e6

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

MQRankSum
type: SiteQuality
SIO_000300: -6.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.8e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1