19-12776557-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12776557
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12776557
    reference: chr 19
allele count: 4
allele frequency: 3.295435821387378e-5
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000600281
  gene symbol: MAN2B1
  hgvsc: ENST00000600281.1:n.263C>A
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000269590
  ensembl protein: ENSP00000472710
  ensembl transcript: ENST00000597961
  gene symbol: CTD-2192J16.24
  hgvsc: ENST00000597961.1:c.213C>A
  hgvsp: ENSP00000472710.1:p.Asp71Glu
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470174
  ensembl transcript: ENST00000486847
  gene symbol: MAN2B1
  hgvsc: ENST00000486847.2:c.160-218C>A
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000395473
  ensembl transcript: ENST00000456935
  gene symbol: MAN2B1
  hgvsc: ENST00000456935.2:c.222C>A
  hgvsp: ENSP00000395473.2:p.Asp74Glu
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470533
  ensembl transcript: ENST00000598876
  gene symbol: MAN2B1
  hgvsc: ENST00000598876.1:c.249C>A
  hgvsp: ENSP00000470533.1:p.Asp83Glu
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000596512
  gene symbol: MAN2B1
  hgvsc: ENST00000596512.1:n.201-218C>A
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000221363
  ensembl transcript: ENST00000221363
  gene symbol: MAN2B1
  hgvsc: ENST00000221363.4:c.222C>A
  hgvsp: ENSP00000221363.4:p.Asp74Glu
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000466794
  gene symbol: MAN2B1
  hgvsc: ENST00000466794.1:n.204C>A
  variant of: http://identifiers.org/hgnc/6826
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9873
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12837
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2318
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1185
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asp74Glu
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

19-12776561-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12776561
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12776561
    reference: chr 19
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000395473
  ensembl transcript: ENST00000456935
  gene symbol: MAN2B1
  hgvsc: ENST00000456935.2:c.218A>G
  hgvsp: ENSP00000395473.2:p.Asp73Gly
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000600281
  gene symbol: MAN2B1
  hgvsc: ENST00000600281.1:n.259A>G
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000269590
  ensembl protein: ENSP00000472710
  ensembl transcript: ENST00000597961
  gene symbol: CTD-2192J16.24
  hgvsc: ENST00000597961.1:c.209A>G
  hgvsp: ENSP00000472710.1:p.Asp70Gly
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470174
  ensembl transcript: ENST00000486847
  gene symbol: MAN2B1
  hgvsc: ENST00000486847.2:c.160-222A>G
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000466794
  gene symbol: MAN2B1
  hgvsc: ENST00000466794.1:n.200A>G
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470533
  ensembl transcript: ENST00000598876
  gene symbol: MAN2B1
  hgvsc: ENST00000598876.1:c.245A>G
  hgvsp: ENSP00000470533.1:p.Asp82Gly
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000221363
  ensembl transcript: ENST00000221363
  gene symbol: MAN2B1
  hgvsc: ENST00000221363.4:c.218A>G
  hgvsp: ENSP00000221363.4:p.Asp73Gly
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000596512
  gene symbol: MAN2B1
  hgvsc: ENST00000596512.1:n.201-222A>G
  variant of: http://identifiers.org/hgnc/6826
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28991
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12837
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9875
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6231
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7186
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp73Gly
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

19-12776574-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12776574
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12776574
    reference: chr 19
allele count: 16
allele frequency: 1.318413289605959e-4
allele num: 121358
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000600281
  gene symbol: MAN2B1
  hgvsc: ENST00000600281.1:n.246C>G
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000269590
  ensembl protein: ENSP00000472710
  ensembl transcript: ENST00000597961
  gene symbol: CTD-2192J16.24
  hgvsc: ENST00000597961.1:c.196C>G
  hgvsp: ENSP00000472710.1:p.Pro66Ala
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470174
  ensembl transcript: ENST00000486847
  gene symbol: MAN2B1
  hgvsc: ENST00000486847.2:c.160-235C>G
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000395473
  ensembl transcript: ENST00000456935
  gene symbol: MAN2B1
  hgvsc: ENST00000456935.2:c.205C>G
  hgvsp: ENSP00000395473.2:p.Pro69Ala
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000596512
  gene symbol: MAN2B1
  hgvsc: ENST00000596512.1:n.201-235C>G
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000221363
  ensembl transcript: ENST00000221363
  gene symbol: MAN2B1
  hgvsc: ENST00000221363.4:c.205C>G
  hgvsp: ENSP00000221363.4:p.Pro69Ala
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000466794
  gene symbol: MAN2B1
  hgvsc: ENST00000466794.1:n.187C>G
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470533
  ensembl transcript: ENST00000598876
  gene symbol: MAN2B1
  hgvsc: ENST00000598876.1:c.232C>G
  hgvsp: ENSP00000470533.1:p.Pro78Ala
  variant of: http://identifiers.org/hgnc/6826
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12836
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9862
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28989
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2152
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1349
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1183
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43781
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro69Ala
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

19-12776586-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12776586
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12776586
    reference: chr 19
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000600281
  gene symbol: MAN2B1
  hgvsc: ENST00000600281.1:n.234G>C
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000466794
  gene symbol: MAN2B1
  hgvsc: ENST00000466794.1:n.175G>C
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000395473
  ensembl transcript: ENST00000456935
  gene symbol: MAN2B1
  hgvsc: ENST00000456935.2:c.193G>C
  hgvsp: ENSP00000395473.2:p.Val65Leu
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000596512
  gene symbol: MAN2B1
  hgvsc: ENST00000596512.1:n.201-247G>C
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470533
  ensembl transcript: ENST00000598876
  gene symbol: MAN2B1
  hgvsc: ENST00000598876.1:c.220G>C
  hgvsp: ENSP00000470533.1:p.Val74Leu
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000269590
  ensembl protein: ENSP00000472710
  ensembl transcript: ENST00000597961
  gene symbol: CTD-2192J16.24
  hgvsc: ENST00000597961.1:c.184G>C
  hgvsp: ENSP00000472710.1:p.Val62Leu
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000221363
  ensembl transcript: ENST00000221363
  gene symbol: MAN2B1
  hgvsc: ENST00000221363.4:c.193G>C
  hgvsp: ENSP00000221363.4:p.Val65Leu
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470174
  ensembl transcript: ENST00000486847
  gene symbol: MAN2B1
  hgvsc: ENST00000486847.2:c.160-247G>C
  variant of: http://identifiers.org/hgnc/6826
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12833
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29011
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9838
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43774
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1177
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val65Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

19-12776587-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12776587
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12776587
    reference: chr 19
allele count: 1
allele frequency: 8.242120532770671e-6
allele num: 121328
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000395473
  ensembl transcript: ENST00000456935
  gene symbol: MAN2B1
  hgvsc: ENST00000456935.2:c.192C>T
  hgvsp: ENST00000456935.2:c.192C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000600281
  gene symbol: MAN2B1
  hgvsc: ENST00000600281.1:n.233C>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000221363
  ensembl transcript: ENST00000221363
  gene symbol: MAN2B1
  hgvsc: ENST00000221363.4:c.192C>T
  hgvsp: ENST00000221363.4:c.192C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000596512
  gene symbol: MAN2B1
  hgvsc: ENST00000596512.1:n.201-248C>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470533
  ensembl transcript: ENST00000598876
  gene symbol: MAN2B1
  hgvsc: ENST00000598876.1:c.219C>T
  hgvsp: ENST00000598876.1:c.219C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000269590
  ensembl protein: ENSP00000472710
  ensembl transcript: ENST00000597961
  gene symbol: CTD-2192J16.24
  hgvsc: ENST00000597961.1:c.183C>T
  hgvsp: ENST00000597961.1:c.183C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470174
  ensembl transcript: ENST00000486847
  gene symbol: MAN2B1
  hgvsc: ENST00000486847.2:c.160-248C>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000466794
  gene symbol: MAN2B1
  hgvsc: ENST00000466794.1:n.174C>T
  variant of: http://identifiers.org/hgnc/6826
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12842
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9820
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29000
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6223
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asn64Asn
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: FS

19-12776600-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12776600
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12776600
    reference: chr 19
allele count: 2
allele frequency: 1.649402916144356e-5
allele num: 121256
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000466794
  gene symbol: MAN2B1
  hgvsc: ENST00000466794.1:n.161C>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470174
  ensembl transcript: ENST00000486847
  gene symbol: MAN2B1
  hgvsc: ENST00000486847.2:c.160-261C>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000221363
  ensembl transcript: ENST00000221363
  gene symbol: MAN2B1
  hgvsc: ENST00000221363.4:c.179C>T
  hgvsp: ENSP00000221363.4:p.Pro60Leu
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000395473
  ensembl transcript: ENST00000456935
  gene symbol: MAN2B1
  hgvsc: ENST00000456935.2:c.179C>T
  hgvsp: ENSP00000395473.2:p.Pro60Leu
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000600281
  gene symbol: MAN2B1
  hgvsc: ENST00000600281.1:n.220C>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470533
  ensembl transcript: ENST00000598876
  gene symbol: MAN2B1
  hgvsc: ENST00000598876.1:c.206C>T
  hgvsp: ENSP00000470533.1:p.Pro69Leu
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000269590
  ensembl protein: ENSP00000472710
  ensembl transcript: ENST00000597961
  gene symbol: CTD-2192J16.24
  hgvsc: ENST00000597961.1:c.170C>T
  hgvsp: ENSP00000472710.1:p.Pro57Leu
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000596512
  gene symbol: MAN2B1
  hgvsc: ENST00000596512.1:n.201-261C>T
  variant of: http://identifiers.org/hgnc/6826
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9782
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28981
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12823
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1167
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro60Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

19-12776603-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12776603
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12776603
    reference: chr 19
allele count: 1
allele frequency: 8.250688932525866e-6
allele num: 121202
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000600281
  gene symbol: MAN2B1
  hgvsc: ENST00000600281.1:n.217A>G
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470533
  ensembl transcript: ENST00000598876
  gene symbol: MAN2B1
  hgvsc: ENST00000598876.1:c.203A>G
  hgvsp: ENSP00000470533.1:p.Gln68Arg
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000466794
  gene symbol: MAN2B1
  hgvsc: ENST00000466794.1:n.158A>G
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000395473
  ensembl transcript: ENST00000456935
  gene symbol: MAN2B1
  hgvsc: ENST00000456935.2:c.176A>G
  hgvsp: ENSP00000395473.2:p.Gln59Arg
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000221363
  ensembl transcript: ENST00000221363
  gene symbol: MAN2B1
  hgvsc: ENST00000221363.4:c.176A>G
  hgvsp: ENSP00000221363.4:p.Gln59Arg
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470174
  ensembl transcript: ENST00000486847
  gene symbol: MAN2B1
  hgvsc: ENST00000486847.2:c.160-264A>G
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000269590
  ensembl protein: ENSP00000472710
  ensembl transcript: ENST00000597961
  gene symbol: CTD-2192J16.24
  hgvsc: ENST00000597961.1:c.167A>G
  hgvsp: ENSP00000472710.1:p.Gln56Arg
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000596512
  gene symbol: MAN2B1
  hgvsc: ENST00000596512.1:n.201-264A>G
  variant of: http://identifiers.org/hgnc/6826
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2318
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28977
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9751
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12817
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7163
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1167
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6221
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1332
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gln59Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

19-12776631-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12776631
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12776631
    reference: chr 19
allele count: 4
allele frequency: 3.341352579524191e-5
allele num: 119712
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470174
  ensembl transcript: ENST00000486847
  gene symbol: MAN2B1
  hgvsc: ENST00000486847.2:c.160-292G>A
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000600281
  gene symbol: MAN2B1
  hgvsc: ENST00000600281.1:n.201-12G>A
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269590
  ensembl protein: ENSP00000472710
  ensembl transcript: ENST00000597961
  gene symbol: CTD-2192J16.24
  hgvsc: ENST00000597961.1:c.151-12G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000395473
  ensembl transcript: ENST00000456935
  gene symbol: MAN2B1
  hgvsc: ENST00000456935.2:c.160-12G>A
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000221363
  ensembl transcript: ENST00000221363
  gene symbol: MAN2B1
  hgvsc: ENST00000221363.4:c.160-12G>A
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470533
  ensembl transcript: ENST00000598876
  gene symbol: MAN2B1
  hgvsc: ENST00000598876.1:c.175G>A
  hgvsp: ENSP00000470533.1:p.Val59Ile
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000466794
  gene symbol: MAN2B1
  hgvsc: ENST00000466794.1:n.142-12G>A
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000596512
  gene symbol: MAN2B1
  hgvsc: ENST00000596512.1:n.201-292G>A
  variant of: http://identifiers.org/hgnc/6826
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12309
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9319
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27938
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42045
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6196
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1753
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1170
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val59Ile
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

19-12776638-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12776638
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12776638
    reference: chr 19
allele count: 1
allele frequency: 8.423180592991915e-6
allele num: 118720
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000596512
  gene symbol: MAN2B1
  hgvsc: ENST00000596512.1:n.201-299G>A
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000221363
  ensembl transcript: ENST00000221363
  gene symbol: MAN2B1
  hgvsc: ENST00000221363.4:c.160-19G>A
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470533
  ensembl transcript: ENST00000598876
  gene symbol: MAN2B1
  hgvsc: ENST00000598876.1:c.168G>A
  hgvsp: ENST00000598876.1:c.168G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470174
  ensembl transcript: ENST00000486847
  gene symbol: MAN2B1
  hgvsc: ENST00000486847.2:c.160-299G>A
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000600281
  gene symbol: MAN2B1
  hgvsc: ENST00000600281.1:n.201-19G>A
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000395473
  ensembl transcript: ENST00000456935
  gene symbol: MAN2B1
  hgvsc: ENST00000456935.2:c.160-19G>A
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269590
  ensembl protein: ENSP00000472710
  ensembl transcript: ENST00000597961
  gene symbol: CTD-2192J16.24
  hgvsc: ENST00000597961.1:c.151-19G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000466794
  gene symbol: MAN2B1
  hgvsc: ENST00000466794.1:n.142-19G>A
  variant of: http://identifiers.org/hgnc/6826
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11962
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27101
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2131
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2017
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8943
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6179
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6493
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val56Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

19-12776644-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12776644
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12776644
    reference: chr 19
allele count: 2
allele frequency: 1.714442463310931e-5
allele num: 116656
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000600281
  gene symbol: MAN2B1
  hgvsc: ENST00000600281.1:n.201-25A>G
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000221363
  ensembl transcript: ENST00000221363
  gene symbol: MAN2B1
  hgvsc: ENST00000221363.4:c.160-25A>G
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470533
  ensembl transcript: ENST00000598876
  gene symbol: MAN2B1
  hgvsc: ENST00000598876.1:c.162A>G
  hgvsp: ENST00000598876.1:c.162A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269590
  ensembl protein: ENSP00000472710
  ensembl transcript: ENST00000597961
  gene symbol: CTD-2192J16.24
  hgvsc: ENST00000597961.1:c.151-25A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000596512
  gene symbol: MAN2B1
  hgvsc: ENST00000596512.1:n.201-305A>G
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000466794
  gene symbol: MAN2B1
  hgvsc: ENST00000466794.1:n.142-25A>G
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470174
  ensembl transcript: ENST00000486847
  gene symbol: MAN2B1
  hgvsc: ENST00000486847.2:c.160-305A>G
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000395473
  ensembl transcript: ENST00000456935
  gene symbol: MAN2B1
  hgvsc: ENST00000456935.2:c.160-25A>G
  variant of: http://identifiers.org/hgnc/6826
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11344
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1958
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8144
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25355
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3928
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5501
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 3.75e1
  variant carriers: 0
hgvs: c.162A>G
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/19-12776646-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12776646
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12776646
    reference: chr 19
allele count: 1
allele frequency: 8.64020460004493e-6
allele num: 115738
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000395473
  ensembl transcript: ENST00000456935
  gene symbol: MAN2B1
  hgvsc: ENST00000456935.2:c.160-27G>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269590
  ensembl protein: ENSP00000472710
  ensembl transcript: ENST00000597961
  gene symbol: CTD-2192J16.24
  hgvsc: ENST00000597961.1:c.151-27G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000221363
  ensembl transcript: ENST00000221363
  gene symbol: MAN2B1
  hgvsc: ENST00000221363.4:c.160-27G>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470174
  ensembl transcript: ENST00000486847
  gene symbol: MAN2B1
  hgvsc: ENST00000486847.2:c.160-307G>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470533
  ensembl transcript: ENST00000598876
  gene symbol: MAN2B1
  hgvsc: ENST00000598876.1:c.160G>T
  hgvsp: ENSP00000470533.1:p.Val54Leu
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000466794
  gene symbol: MAN2B1
  hgvsc: ENST00000466794.1:n.142-27G>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000596512
  gene symbol: MAN2B1
  hgvsc: ENST00000596512.1:n.201-307G>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000600281
  gene symbol: MAN2B1
  hgvsc: ENST00000600281.1:n.201-27G>T
  variant of: http://identifiers.org/hgnc/6826
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7791
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24569
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4714
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2752
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11129
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6555
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 815
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val54Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

19-12776654-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12776654
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12776654
    reference: chr 19
allele count: 10
allele frequency: 9.19946275137532e-5
allele num: 108702
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470533
  ensembl transcript: ENST00000598876
  gene symbol: MAN2B1
  hgvsc: ENST00000598876.1:c.160-8T>C
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000221363
  ensembl transcript: ENST00000221363
  gene symbol: MAN2B1
  hgvsc: ENST00000221363.4:c.160-35T>C
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470174
  ensembl transcript: ENST00000486847
  gene symbol: MAN2B1
  hgvsc: ENST00000486847.2:c.160-315T>C
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000395473
  ensembl transcript: ENST00000456935
  gene symbol: MAN2B1
  hgvsc: ENST00000456935.2:c.160-35T>C
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000600281
  gene symbol: MAN2B1
  hgvsc: ENST00000600281.1:n.201-35T>C
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269590
  ensembl protein: ENSP00000472710
  ensembl transcript: ENST00000597961
  gene symbol: CTD-2192J16.24
  hgvsc: ENST00000597961.1:c.151-35T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000466794
  gene symbol: MAN2B1
  hgvsc: ENST00000466794.1:n.142-35T>C
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000596512
  gene symbol: MAN2B1
  hgvsc: ENST00000596512.1:n.201-315T>C
  variant of: http://identifiers.org/hgnc/6826
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5544
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17712
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2790
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12258
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8026
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2255
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6168
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15486
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
hgvs: c.160-8T>C
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-12776659-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12776659
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12776659
    reference: chr 19
allele count: 1
allele frequency: 9.511489879774767e-6
allele num: 105136
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269590
  ensembl protein: ENSP00000472710
  ensembl transcript: ENST00000597961
  gene symbol: CTD-2192J16.24
  hgvsc: ENST00000597961.1:c.151-40G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470174
  ensembl transcript: ENST00000486847
  gene symbol: MAN2B1
  hgvsc: ENST00000486847.2:c.160-320G>C
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000395473
  ensembl transcript: ENST00000456935
  gene symbol: MAN2B1
  hgvsc: ENST00000456935.2:c.160-40G>C
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000466794
  gene symbol: MAN2B1
  hgvsc: ENST00000466794.1:n.142-40G>C
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000596512
  gene symbol: MAN2B1
  hgvsc: ENST00000596512.1:n.201-320G>C
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470533
  ensembl transcript: ENST00000598876
  gene symbol: MAN2B1
  hgvsc: ENST00000598876.1:c.160-13G>C
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000221363
  ensembl transcript: ENST00000221363
  gene symbol: MAN2B1
  hgvsc: ENST00000221363.4:c.160-40G>C
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000600281
  gene symbol: MAN2B1
  hgvsc: ENST00000600281.1:n.201-40G>C
  variant of: http://identifiers.org/hgnc/6826
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7661
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13608
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4956
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5848
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16919
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3905
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2314
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2714
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20199
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP

19-12776665-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12776665
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12776665
    reference: chr 19
allele count: 1
allele frequency: 9.865046168416068e-6
allele num: 101368
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000600281
  gene symbol: MAN2B1
  hgvsc: ENST00000600281.1:n.201-46C>G
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470533
  ensembl transcript: ENST00000598876
  gene symbol: MAN2B1
  hgvsc: ENST00000598876.1:c.160-19C>G
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000395473
  ensembl transcript: ENST00000456935
  gene symbol: MAN2B1
  hgvsc: ENST00000456935.2:c.160-46C>G
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470174
  ensembl transcript: ENST00000486847
  gene symbol: MAN2B1
  hgvsc: ENST00000486847.2:c.160-326C>G
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000466794
  gene symbol: MAN2B1
  hgvsc: ENST00000466794.1:n.142-46C>G
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000221363
  ensembl transcript: ENST00000221363
  gene symbol: MAN2B1
  hgvsc: ENST00000221363.4:c.160-46C>G
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000596512
  gene symbol: MAN2B1
  hgvsc: ENST00000596512.1:n.201-326C>G
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269590
  ensembl protein: ENSP00000472710
  ensembl transcript: ENST00000597961
  gene symbol: CTD-2192J16.24
  hgvsc: ENST00000597961.1:c.151-46C>G
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4067
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9044
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5251
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2314
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9176
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23413
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

http://identifiers.org/exac.variant/19-12776668-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12776668
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12776668
    reference: chr 19
allele count: 2
allele frequency: 2.02232648438764e-5
allele num: 98896
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000600281
  gene symbol: MAN2B1
  hgvsc: ENST00000600281.1:n.201-49G>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470533
  ensembl transcript: ENST00000598876
  gene symbol: MAN2B1
  hgvsc: ENST00000598876.1:c.160-22G>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000466794
  gene symbol: MAN2B1
  hgvsc: ENST00000466794.1:n.142-49G>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000221363
  ensembl transcript: ENST00000221363
  gene symbol: MAN2B1
  hgvsc: ENST00000221363.4:c.160-49G>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269590
  ensembl protein: ENSP00000472710
  ensembl transcript: ENST00000597961
  gene symbol: CTD-2192J16.24
  hgvsc: ENST00000597961.1:c.151-49G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470174
  ensembl transcript: ENST00000486847
  gene symbol: MAN2B1
  hgvsc: ENST00000486847.2:c.160-329G>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000395473
  ensembl transcript: ENST00000456935
  gene symbol: MAN2B1
  hgvsc: ENST00000456935.2:c.160-49G>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000596512
  gene symbol: MAN2B1
  hgvsc: ENST00000596512.1:n.201-329G>T
  variant of: http://identifiers.org/hgnc/6826
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9633
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3659
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6172
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7012
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24014
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2314
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2742
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5866
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1369
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1299
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5034
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: African
population: Latino
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

19-12776670-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12776670
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12776670
    reference: chr 19
allele count: 1
allele frequency: 1.027348003862828e-5
allele num: 97338
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000221363
  ensembl transcript: ENST00000221363
  gene symbol: MAN2B1
  hgvsc: ENST00000221363.4:c.160-51C>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470174
  ensembl transcript: ENST00000486847
  gene symbol: MAN2B1
  hgvsc: ENST00000486847.2:c.160-331C>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000600281
  gene symbol: MAN2B1
  hgvsc: ENST00000600281.1:n.201-51C>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000395473
  ensembl transcript: ENST00000456935
  gene symbol: MAN2B1
  hgvsc: ENST00000456935.2:c.160-51C>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269590
  ensembl protein: ENSP00000472710
  ensembl transcript: ENST00000597961
  gene symbol: CTD-2192J16.24
  hgvsc: ENST00000597961.1:c.151-51C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000596512
  gene symbol: MAN2B1
  hgvsc: ENST00000596512.1:n.201-331C>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470533
  ensembl transcript: ENST00000598876
  gene symbol: MAN2B1
  hgvsc: ENST00000598876.1:c.160-24C>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000466794
  gene symbol: MAN2B1
  hgvsc: ENST00000466794.1:n.142-51C>T
  variant of: http://identifiers.org/hgnc/6826
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24694
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2314
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3546
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6508
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6027
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1667
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5202
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 738
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

19-12776672-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12776672
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12776672
    reference: chr 19
allele count: 2
allele frequency: 2.077835726307478e-5
allele num: 96254
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000596512
  gene symbol: MAN2B1
  hgvsc: ENST00000596512.1:n.201-333C>A
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470174
  ensembl transcript: ENST00000486847
  gene symbol: MAN2B1
  hgvsc: ENST00000486847.2:c.160-333C>A
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000466794
  gene symbol: MAN2B1
  hgvsc: ENST00000466794.1:n.142-53C>A
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470533
  ensembl transcript: ENST00000598876
  gene symbol: MAN2B1
  hgvsc: ENST00000598876.1:c.160-26C>A
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269590
  ensembl protein: ENSP00000472710
  ensembl transcript: ENST00000597961
  gene symbol: CTD-2192J16.24
  hgvsc: ENST00000597961.1:c.151-53C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000221363
  ensembl transcript: ENST00000221363
  gene symbol: MAN2B1
  hgvsc: ENST00000221363.4:c.160-53C>A
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000600281
  gene symbol: MAN2B1
  hgvsc: ENST00000600281.1:n.201-53C>A
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000395473
  ensembl transcript: ENST00000456935
  gene symbol: MAN2B1
  hgvsc: ENST00000456935.2:c.160-53C>A
  variant of: http://identifiers.org/hgnc/6826
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3443
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2314
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6785
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24926
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10576
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5264
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6154
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6539
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24343
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

19-12776681-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12776681
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12776681
    reference: chr 19
allele count: 2
allele frequency: 2.257693089201454e-5
allele num: 88586
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000600281
  gene symbol: MAN2B1
  hgvsc: ENST00000600281.1:n.201-62C>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000395473
  ensembl transcript: ENST00000456935
  gene symbol: MAN2B1
  hgvsc: ENST00000456935.2:c.160-62C>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000221363
  ensembl transcript: ENST00000221363
  gene symbol: MAN2B1
  hgvsc: ENST00000221363.4:c.160-62C>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470174
  ensembl transcript: ENST00000486847
  gene symbol: MAN2B1
  hgvsc: ENST00000486847.2:c.160-342C>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000466794
  gene symbol: MAN2B1
  hgvsc: ENST00000466794.1:n.142-62C>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000596512
  gene symbol: MAN2B1
  hgvsc: ENST00000596512.1:n.201-342C>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470533
  ensembl transcript: ENST00000598876
  gene symbol: MAN2B1
  hgvsc: ENST00000598876.1:c.160-35C>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269590
  ensembl protein: ENSP00000472710
  ensembl transcript: ENST00000597961
  gene symbol: CTD-2192J16.24
  hgvsc: ENST00000597961.1:c.151-62C>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2563
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23611
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13190
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2509
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8726
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2314
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2622
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6152
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 22055
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3989
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7247
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1741
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ

19-12776685-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12776685
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12776685
    reference: chr 19
allele count: 4
allele frequency: 4.646516274423251e-5
allele num: 86086
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000596512
  gene symbol: MAN2B1
  hgvsc: ENST00000596512.1:n.201-346C>A
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470174
  ensembl transcript: ENST00000486847
  gene symbol: MAN2B1
  hgvsc: ENST00000486847.2:c.160-346C>A
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000395473
  ensembl transcript: ENST00000456935
  gene symbol: MAN2B1
  hgvsc: ENST00000456935.2:c.160-66C>A
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470533
  ensembl transcript: ENST00000598876
  gene symbol: MAN2B1
  hgvsc: ENST00000598876.1:c.160-39C>A
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269590
  ensembl protein: ENSP00000472710
  ensembl transcript: ENST00000597961
  gene symbol: CTD-2192J16.24
  hgvsc: ENST00000597961.1:c.151-66C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000600281
  gene symbol: MAN2B1
  hgvsc: ENST00000600281.1:n.201-66C>A
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000221363
  ensembl transcript: ENST00000221363
  gene symbol: MAN2B1
  hgvsc: ENST00000221363.4:c.160-66C>A
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000466794
  gene symbol: MAN2B1
  hgvsc: ENST00000466794.1:n.142-66C>A
  variant of: http://identifiers.org/hgnc/6826
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2699
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14446
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2329
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2314
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9274
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22505
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4311
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5554
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1392
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3920
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

19-12776695-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12776695
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12776695
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 78752
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000600281
  gene symbol: MAN2B1
  hgvsc: ENST00000600281.1:n.201-76T>C
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000466794
  gene symbol: MAN2B1
  hgvsc: ENST00000466794.1:n.142-76T>C
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000395473
  ensembl transcript: ENST00000456935
  gene symbol: MAN2B1
  hgvsc: ENST00000456935.2:c.160-76T>C
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000596512
  gene symbol: MAN2B1
  hgvsc: ENST00000596512.1:n.201-356T>C
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470174
  ensembl transcript: ENST00000486847
  gene symbol: MAN2B1
  hgvsc: ENST00000486847.2:c.160-356T>C
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470533
  ensembl transcript: ENST00000598876
  gene symbol: MAN2B1
  hgvsc: ENST00000598876.1:c.160-49T>C
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000221363
  ensembl transcript: ENST00000221363
  gene symbol: MAN2B1
  hgvsc: ENST00000221363.4:c.160-76T>C
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269590
  ensembl protein: ENSP00000472710
  ensembl transcript: ENST00000597961
  gene symbol: CTD-2192J16.24
  hgvsc: ENST00000597961.1:c.151-76T>C
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3136
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20067
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2796
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17169
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8971
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3534
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5411
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1064
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1616
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD

19-12777311-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12777311
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12777311
    reference: chr 19
allele count: 1
allele frequency: 4.834187373102581e-5
allele num: 20686
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000466794
  gene symbol: MAN2B1
  hgvsc: ENST00000466794.1:n.141+46C>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000596512
  gene symbol: MAN2B1
  hgvsc: ENST00000596512.1:n.200+46C>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269590
  ensembl protein: ENSP00000472710
  ensembl transcript: ENST00000597961
  gene symbol: CTD-2192J16.24
  hgvsc: ENST00000597961.1:c.151-692C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470533
  ensembl transcript: ENST00000598876
  gene symbol: MAN2B1
  hgvsc: ENST00000598876.1:c.159+46C>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000221363
  ensembl transcript: ENST00000221363
  gene symbol: MAN2B1
  hgvsc: ENST00000221363.4:c.159+46C>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000395473
  ensembl transcript: ENST00000456935
  gene symbol: MAN2B1
  hgvsc: ENST00000456935.2:c.159+46C>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470174
  ensembl transcript: ENST00000486847
  gene symbol: MAN2B1
  hgvsc: ENST00000486847.2:c.159+46C>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000600281
  gene symbol: MAN2B1
  hgvsc: ENST00000600281.1:n.200+46C>T
  variant of: http://identifiers.org/hgnc/6826
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2152
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22765
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2283
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25829
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2853
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7548
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19572
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1230
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

19-12777322-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12777322
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12777322
    reference: chr 19
allele count: 1
allele frequency: 4.77190303493033e-5
allele num: 20956
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000466794
  gene symbol: MAN2B1
  hgvsc: ENST00000466794.1:n.141+35G>A
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000600281
  gene symbol: MAN2B1
  hgvsc: ENST00000600281.1:n.200+35G>A
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470174
  ensembl transcript: ENST00000486847
  gene symbol: MAN2B1
  hgvsc: ENST00000486847.2:c.159+35G>A
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269590
  ensembl protein: ENSP00000472710
  ensembl transcript: ENST00000597961
  gene symbol: CTD-2192J16.24
  hgvsc: ENST00000597961.1:c.151-703G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000221363
  ensembl transcript: ENST00000221363
  gene symbol: MAN2B1
  hgvsc: ENST00000221363.4:c.159+35G>A
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470533
  ensembl transcript: ENST00000598876
  gene symbol: MAN2B1
  hgvsc: ENST00000598876.1:c.159+35G>A
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000395473
  ensembl transcript: ENST00000456935
  gene symbol: MAN2B1
  hgvsc: ENST00000456935.2:c.159+35G>A
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000596512
  gene symbol: MAN2B1
  hgvsc: ENST00000596512.1:n.200+35G>A
  variant of: http://identifiers.org/hgnc/6826
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23522
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2999
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2304
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2161
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25186
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19927
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

19-12777324-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12777324
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12777324
    reference: chr 19
allele count: 3
allele frequency: 1.422879908935686e-4
allele num: 21084
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000596512
  gene symbol: MAN2B1
  hgvsc: ENST00000596512.1:n.200+33A>G
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470533
  ensembl transcript: ENST00000598876
  gene symbol: MAN2B1
  hgvsc: ENST00000598876.1:c.159+33A>G
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269590
  ensembl protein: ENSP00000472710
  ensembl transcript: ENST00000597961
  gene symbol: CTD-2192J16.24
  hgvsc: ENST00000597961.1:c.151-705A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000395473
  ensembl transcript: ENST00000456935
  gene symbol: MAN2B1
  hgvsc: ENST00000456935.2:c.159+33A>G
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000600281
  gene symbol: MAN2B1
  hgvsc: ENST00000600281.1:n.200+33A>G
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470174
  ensembl transcript: ENST00000486847
  gene symbol: MAN2B1
  hgvsc: ENST00000486847.2:c.159+33A>G
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000466794
  gene symbol: MAN2B1
  hgvsc: ENST00000466794.1:n.141+33A>G
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000221363
  ensembl transcript: ENST00000221363
  gene symbol: MAN2B1
  hgvsc: ENST00000221363.4:c.159+33A>G
  variant of: http://identifiers.org/hgnc/6826
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3010
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2302
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25806
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22928
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1243
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4289
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19663
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

19-12777342-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12777342
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12777342
    reference: chr 19
allele count: 1
allele frequency: 4.420475643179206e-5
allele num: 22622
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000466794
  gene symbol: MAN2B1
  hgvsc: ENST00000466794.1:n.141+15C>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269590
  ensembl protein: ENSP00000472710
  ensembl transcript: ENST00000597961
  gene symbol: CTD-2192J16.24
  hgvsc: ENST00000597961.1:c.151-723C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470533
  ensembl transcript: ENST00000598876
  gene symbol: MAN2B1
  hgvsc: ENST00000598876.1:c.159+15C>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000600281
  gene symbol: MAN2B1
  hgvsc: ENST00000600281.1:n.200+15C>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000395473
  ensembl transcript: ENST00000456935
  gene symbol: MAN2B1
  hgvsc: ENST00000456935.2:c.159+15C>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000221363
  ensembl transcript: ENST00000221363
  gene symbol: MAN2B1
  hgvsc: ENST00000221363.4:c.159+15C>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470174
  ensembl transcript: ENST00000486847
  gene symbol: MAN2B1
  hgvsc: ENST00000486847.2:c.159+15C>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000596512
  gene symbol: MAN2B1
  hgvsc: ENST00000596512.1:n.200+15C>T
  variant of: http://identifiers.org/hgnc/6826
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3358
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31481
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2168
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16658
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29197
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 792
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2001
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15605
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

19-12777343-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12777343
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12777343
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 22876
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000596512
  gene symbol: MAN2B1
  hgvsc: ENST00000596512.1:n.200+14C>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269590
  ensembl protein: ENSP00000472710
  ensembl transcript: ENST00000597961
  gene symbol: CTD-2192J16.24
  hgvsc: ENST00000597961.1:c.151-724C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470533
  ensembl transcript: ENST00000598876
  gene symbol: MAN2B1
  hgvsc: ENST00000598876.1:c.159+14C>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000600281
  gene symbol: MAN2B1
  hgvsc: ENST00000600281.1:n.200+14C>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000221363
  ensembl transcript: ENST00000221363
  gene symbol: MAN2B1
  hgvsc: ENST00000221363.4:c.159+14C>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000395473
  ensembl transcript: ENST00000456935
  gene symbol: MAN2B1
  hgvsc: ENST00000456935.2:c.159+14C>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470174
  ensembl transcript: ENST00000486847
  gene symbol: MAN2B1
  hgvsc: ENST00000486847.2:c.159+14C>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000466794
  gene symbol: MAN2B1
  hgvsc: ENST00000466794.1:n.141+14C>T
  variant of: http://identifiers.org/hgnc/6826
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 16390
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2337
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31727
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2167
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3355
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1962
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15389
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

19-12777345-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12777345
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12777345
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 23142
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269590
  ensembl protein: ENSP00000472710
  ensembl transcript: ENST00000597961
  gene symbol: CTD-2192J16.24
  hgvsc: ENST00000597961.1:c.151-726C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000466794
  gene symbol: MAN2B1
  hgvsc: ENST00000466794.1:n.141+12C>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470174
  ensembl transcript: ENST00000486847
  gene symbol: MAN2B1
  hgvsc: ENST00000486847.2:c.159+12C>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000221363
  ensembl transcript: ENST00000221363
  gene symbol: MAN2B1
  hgvsc: ENST00000221363.4:c.159+12C>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470533
  ensembl transcript: ENST00000598876
  gene symbol: MAN2B1
  hgvsc: ENST00000598876.1:c.159+12C>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000395473
  ensembl transcript: ENST00000456935
  gene symbol: MAN2B1
  hgvsc: ENST00000456935.2:c.159+12C>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000596512
  gene symbol: MAN2B1
  hgvsc: ENST00000596512.1:n.200+12C>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000600281
  gene symbol: MAN2B1
  hgvsc: ENST00000600281.1:n.200+12C>T
  variant of: http://identifiers.org/hgnc/6826
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3424
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2340
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2167
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1738
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32046
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15928
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15023
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1819
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29886
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4897
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

19-12777348-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12777348
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12777348
    reference: chr 19
allele count: 1
allele frequency: 4.217985490129914e-5
allele num: 23708
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000395473
  ensembl transcript: ENST00000456935
  gene symbol: MAN2B1
  hgvsc: ENST00000456935.2:c.159+9G>A
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470533
  ensembl transcript: ENST00000598876
  gene symbol: MAN2B1
  hgvsc: ENST00000598876.1:c.159+9G>A
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269590
  ensembl protein: ENSP00000472710
  ensembl transcript: ENST00000597961
  gene symbol: CTD-2192J16.24
  hgvsc: ENST00000597961.1:c.151-729G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000221363
  ensembl transcript: ENST00000221363
  gene symbol: MAN2B1
  hgvsc: ENST00000221363.4:c.159+9G>A
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000466794
  gene symbol: MAN2B1
  hgvsc: ENST00000466794.1:n.141+9G>A
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000596512
  gene symbol: MAN2B1
  hgvsc: ENST00000596512.1:n.200+9G>A
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000600281
  gene symbol: MAN2B1
  hgvsc: ENST00000600281.1:n.200+9G>A
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470174
  ensembl transcript: ENST00000486847
  gene symbol: MAN2B1
  hgvsc: ENST00000486847.2:c.159+9G>A
  variant of: http://identifiers.org/hgnc/6826
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3527
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15058
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2168
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32610
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1784
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1060
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1621
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

19-12777372-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12777372
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12777372
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 27290
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000596512
  gene symbol: MAN2B1
  hgvsc: ENST00000596512.1:n.185G>A
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470174
  ensembl transcript: ENST00000486847
  gene symbol: MAN2B1
  hgvsc: ENST00000486847.2:c.144G>A
  hgvsp: ENST00000486847.2:c.144G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000600281
  gene symbol: MAN2B1
  hgvsc: ENST00000600281.1:n.185G>A
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000395473
  ensembl transcript: ENST00000456935
  gene symbol: MAN2B1
  hgvsc: ENST00000456935.2:c.144G>A
  hgvsp: ENST00000456935.2:c.144G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000466794
  gene symbol: MAN2B1
  hgvsc: ENST00000466794.1:n.126G>A
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000221363
  ensembl transcript: ENST00000221363
  gene symbol: MAN2B1
  hgvsc: ENST00000221363.4:c.144G>A
  hgvsp: ENST00000221363.4:c.144G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470533
  ensembl transcript: ENST00000598876
  gene symbol: MAN2B1
  hgvsc: ENST00000598876.1:c.144G>A
  hgvsp: ENST00000598876.1:c.144G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269590
  ensembl protein: ENSP00000472710
  ensembl transcript: ENST00000597961
  gene symbol: CTD-2192J16.24
  hgvsc: ENST00000597961.1:c.151-753G>A
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4361
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12459
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33136
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2527
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2175
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12454
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2035
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5636
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg48Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

19-12777374-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12777374
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12777374
    reference: chr 19
allele count: 1
allele frequency: 3.651767455448437e-5
allele num: 27384
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000600281
  gene symbol: MAN2B1
  hgvsc: ENST00000600281.1:n.183C>G
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470533
  ensembl transcript: ENST00000598876
  gene symbol: MAN2B1
  hgvsc: ENST00000598876.1:c.142C>G
  hgvsp: ENSP00000470533.1:p.Arg48Gly
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269590
  ensembl protein: ENSP00000472710
  ensembl transcript: ENST00000597961
  gene symbol: CTD-2192J16.24
  hgvsc: ENST00000597961.1:c.151-755C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000221363
  ensembl transcript: ENST00000221363
  gene symbol: MAN2B1
  hgvsc: ENST00000221363.4:c.142C>G
  hgvsp: ENSP00000221363.4:p.Arg48Gly
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000596512
  gene symbol: MAN2B1
  hgvsc: ENST00000596512.1:n.183C>G
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470174
  ensembl transcript: ENST00000486847
  gene symbol: MAN2B1
  hgvsc: ENST00000486847.2:c.142C>G
  hgvsp: ENSP00000470174.1:p.Arg48Gly
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000466794
  gene symbol: MAN2B1
  hgvsc: ENST00000466794.1:n.124C>G
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000395473
  ensembl transcript: ENST00000456935
  gene symbol: MAN2B1
  hgvsc: ENST00000456935.2:c.142C>G
  hgvsp: ENSP00000395473.2:p.Arg48Gly
  variant of: http://identifiers.org/hgnc/6826
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12358
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2500
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33006
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4500
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2174
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12362
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5605
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2115
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg48Gly
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

19-12777381-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12777381
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12777381
    reference: chr 19
allele count: 87
allele frequency: 3.093223352058594e-3
allele num: 28126
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000466794
  gene symbol: MAN2B1
  hgvsc: ENST00000466794.1:n.117C>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470533
  ensembl transcript: ENST00000598876
  gene symbol: MAN2B1
  hgvsc: ENST00000598876.1:c.135C>T
  hgvsp: ENST00000598876.1:c.135C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470174
  ensembl transcript: ENST00000486847
  gene symbol: MAN2B1
  hgvsc: ENST00000486847.2:c.135C>T
  hgvsp: ENST00000486847.2:c.135C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000221363
  ensembl transcript: ENST00000221363
  gene symbol: MAN2B1
  hgvsc: ENST00000221363.4:c.135C>T
  hgvsp: ENST00000221363.4:c.135C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000395473
  ensembl transcript: ENST00000456935
  gene symbol: MAN2B1
  hgvsc: ENST00000456935.2:c.135C>T
  hgvsp: ENST00000456935.2:c.135C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000596512
  gene symbol: MAN2B1
  hgvsc: ENST00000596512.1:n.176C>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000600281
  gene symbol: MAN2B1
  hgvsc: ENST00000600281.1:n.176C>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269590
  ensembl protein: ENSP00000472710
  ensembl transcript: ENST00000597961
  gene symbol: CTD-2192J16.24
  hgvsc: ENST00000597961.1:c.151-762C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32461
  bin: 7.5e0
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4916
  bin: 1.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2458
  bin: 2.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2469
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12241
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 1.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12036
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1437
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 914
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 8.25e1
  variant carriers: 1
hgvs: p.Ala45Ala
num of homozygotes: 1
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ

19-12777392-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12777392
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12777392
    reference: chr 19
allele count: 2
allele frequency: 6.662225183211193e-5
allele num: 30020
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000221363
  ensembl transcript: ENST00000221363
  gene symbol: MAN2B1
  hgvsc: ENST00000221363.4:c.124C>T
  hgvsp: ENST00000221363.4:c.124C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000466794
  gene symbol: MAN2B1
  hgvsc: ENST00000466794.1:n.106C>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000596512
  gene symbol: MAN2B1
  hgvsc: ENST00000596512.1:n.165C>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470174
  ensembl transcript: ENST00000486847
  gene symbol: MAN2B1
  hgvsc: ENST00000486847.2:c.124C>T
  hgvsp: ENST00000486847.2:c.124C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470533
  ensembl transcript: ENST00000598876
  gene symbol: MAN2B1
  hgvsc: ENST00000598876.1:c.124C>T
  hgvsp: ENST00000598876.1:c.124C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269590
  ensembl protein: ENSP00000472710
  ensembl transcript: ENST00000597961
  gene symbol: CTD-2192J16.24
  hgvsc: ENST00000597961.1:c.151-773C>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000395473
  ensembl transcript: ENST00000456935
  gene symbol: MAN2B1
  hgvsc: ENST00000456935.2:c.124C>T
  hgvsp: ENST00000456935.2:c.124C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000600281
  gene symbol: MAN2B1
  hgvsc: ENST00000600281.1:n.165C>T
  variant of: http://identifiers.org/hgnc/6826
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12386
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32042
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5836
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2181
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2532
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1634
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12726
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu42Leu
num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS

19-12777428-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12777428
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12777428
    reference: chr 19
allele count: 1
allele frequency: 5.629996622002027e-5
allele num: 17762
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000596512
  gene symbol: MAN2B1
  hgvsc: ENST00000596512.1:n.129C>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470533
  ensembl transcript: ENST00000598876
  gene symbol: MAN2B1
  hgvsc: ENST00000598876.1:c.88C>T
  hgvsp: ENSP00000470533.1:p.Pro30Ser
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000466794
  gene symbol: MAN2B1
  hgvsc: ENST00000466794.1:n.70C>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000395473
  ensembl transcript: ENST00000456935
  gene symbol: MAN2B1
  hgvsc: ENST00000456935.2:c.88C>T
  hgvsp: ENSP00000395473.2:p.Pro30Ser
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269590
  ensembl protein: ENSP00000472710
  ensembl transcript: ENST00000597961
  gene symbol: CTD-2192J16.24
  hgvsc: ENST00000597961.1:c.151-809C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000600281
  gene symbol: MAN2B1
  hgvsc: ENST00000600281.1:n.129C>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000221363
  ensembl transcript: ENST00000221363
  gene symbol: MAN2B1
  hgvsc: ENST00000221363.4:c.88C>T
  hgvsp: ENSP00000221363.4:p.Pro30Ser
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470174
  ensembl transcript: ENST00000486847
  gene symbol: MAN2B1
  hgvsc: ENST00000486847.2:c.88C>T
  hgvsp: ENSP00000470174.1:p.Pro30Ser
  variant of: http://identifiers.org/hgnc/6826
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31487
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16028
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2965
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4034
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1193
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro30Ser
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

19-12777451-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12777451
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12777451
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 15954
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269590
  ensembl protein: ENSP00000472710
  ensembl transcript: ENST00000597961
  gene symbol: CTD-2192J16.24
  hgvsc: ENST00000597961.1:c.151-832G>A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470533
  ensembl transcript: ENST00000598876
  gene symbol: MAN2B1
  hgvsc: ENST00000598876.1:c.65G>A
  hgvsp: ENSP00000470533.1:p.Trp22Ter
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000600281
  gene symbol: MAN2B1
  hgvsc: ENST00000600281.1:n.106G>A
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000596512
  gene symbol: MAN2B1
  hgvsc: ENST00000596512.1:n.106G>A
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000395473
  ensembl transcript: ENST00000456935
  gene symbol: MAN2B1
  hgvsc: ENST00000456935.2:c.65G>A
  hgvsp: ENSP00000395473.2:p.Trp22Ter
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000221363
  ensembl transcript: ENST00000221363
  gene symbol: MAN2B1
  hgvsc: ENST00000221363.4:c.65G>A
  hgvsp: ENSP00000221363.4:p.Trp22Ter
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470174
  ensembl transcript: ENST00000486847
  gene symbol: MAN2B1
  hgvsc: ENST00000486847.2:c.65G>A
  hgvsp: ENSP00000470174.1:p.Trp22Ter
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000466794
  gene symbol: MAN2B1
  hgvsc: ENST00000466794.1:n.47G>A
  variant of: http://identifiers.org/hgnc/6826
canonical: true
consequence: stop gained
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 12282
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2164
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34593
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2683
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3837
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2136
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Trp22Ter
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ

19-12777455-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12777455
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12777455
    reference: chr 19
allele count: 2
allele frequency: 1.268552581504503e-4
allele num: 15766
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000600281
  gene symbol: MAN2B1
  hgvsc: ENST00000600281.1:n.102C>A
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269590
  ensembl protein: ENSP00000472710
  ensembl transcript: ENST00000597961
  gene symbol: CTD-2192J16.24
  hgvsc: ENST00000597961.1:c.151-836C>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000221363
  ensembl transcript: ENST00000221363
  gene symbol: MAN2B1
  hgvsc: ENST00000221363.4:c.61C>A
  hgvsp: ENSP00000221363.4:p.Pro21Thr
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000596512
  gene symbol: MAN2B1
  hgvsc: ENST00000596512.1:n.102C>A
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000395473
  ensembl transcript: ENST00000456935
  gene symbol: MAN2B1
  hgvsc: ENST00000456935.2:c.61C>A
  hgvsp: ENSP00000395473.2:p.Pro21Thr
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470174
  ensembl transcript: ENST00000486847
  gene symbol: MAN2B1
  hgvsc: ENST00000486847.2:c.61C>A
  hgvsp: ENSP00000470174.1:p.Pro21Thr
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470533
  ensembl transcript: ENST00000598876
  gene symbol: MAN2B1
  hgvsc: ENST00000598876.1:c.61C>A
  hgvsp: ENSP00000470533.1:p.Pro21Thr
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000466794
  gene symbol: MAN2B1
  hgvsc: ENST00000466794.1:n.43C>A
  variant of: http://identifiers.org/hgnc/6826
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2059
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34851
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2107
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11887
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3758
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1889
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro21Thr
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum

19-12777456-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12777456
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12777456
    reference: chr 19
allele count: 1
allele frequency: 6.354047528275512e-5
allele num: 15738
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470533
  ensembl transcript: ENST00000598876
  gene symbol: MAN2B1
  hgvsc: ENST00000598876.1:c.60C>T
  hgvsp: ENST00000598876.1:c.60C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000600281
  gene symbol: MAN2B1
  hgvsc: ENST00000600281.1:n.101C>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269590
  ensembl protein: ENSP00000472710
  ensembl transcript: ENST00000597961
  gene symbol: CTD-2192J16.24
  hgvsc: ENST00000597961.1:c.151-837C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000596512
  gene symbol: MAN2B1
  hgvsc: ENST00000596512.1:n.101C>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000221363
  ensembl transcript: ENST00000221363
  gene symbol: MAN2B1
  hgvsc: ENST00000221363.4:c.60C>T
  hgvsp: ENST00000221363.4:c.60C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000395473
  ensembl transcript: ENST00000456935
  gene symbol: MAN2B1
  hgvsc: ENST00000456935.2:c.60C>T
  hgvsp: ENST00000456935.2:c.60C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470174
  ensembl transcript: ENST00000486847
  gene symbol: MAN2B1
  hgvsc: ENST00000486847.2:c.60C>T
  hgvsp: ENST00000486847.2:c.60C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000466794
  gene symbol: MAN2B1
  hgvsc: ENST00000466794.1:n.42C>T
  variant of: http://identifiers.org/hgnc/6826
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11893
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2108
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34863
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2576
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1840
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly20Gly
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum

19-12777460-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12777460
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12777460
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 15364
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470533
  ensembl transcript: ENST00000598876
  gene symbol: MAN2B1
  hgvsc: ENST00000598876.1:c.56C>A
  hgvsp: ENSP00000470533.1:p.Ala19Glu
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000395473
  ensembl transcript: ENST00000456935
  gene symbol: MAN2B1
  hgvsc: ENST00000456935.2:c.56C>A
  hgvsp: ENSP00000395473.2:p.Ala19Glu
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000600281
  gene symbol: MAN2B1
  hgvsc: ENST00000600281.1:n.97C>A
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470174
  ensembl transcript: ENST00000486847
  gene symbol: MAN2B1
  hgvsc: ENST00000486847.2:c.56C>A
  hgvsp: ENSP00000470174.1:p.Ala19Glu
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000466794
  gene symbol: MAN2B1
  hgvsc: ENST00000466794.1:n.38C>A
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000596512
  gene symbol: MAN2B1
  hgvsc: ENST00000596512.1:n.97C>A
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000221363
  ensembl transcript: ENST00000221363
  gene symbol: MAN2B1
  hgvsc: ENST00000221363.4:c.56C>A
  hgvsp: ENSP00000221363.4:p.Ala19Glu
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269590
  ensembl protein: ENSP00000472710
  ensembl transcript: ENST00000597961
  gene symbol: CTD-2192J16.24
  hgvsc: ENST00000597961.1:c.151-841C>A
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11436
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2034
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35037
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3662
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1721
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala19Glu
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

19-12777465-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12777465
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12777465
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 15120
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000466794
  gene symbol: MAN2B1
  hgvsc: ENST00000466794.1:n.33C>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000221363
  ensembl transcript: ENST00000221363
  gene symbol: MAN2B1
  hgvsc: ENST00000221363.4:c.51C>T
  hgvsp: ENST00000221363.4:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269590
  ensembl protein: ENSP00000472710
  ensembl transcript: ENST00000597961
  gene symbol: CTD-2192J16.24
  hgvsc: ENST00000597961.1:c.151-846C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000596512
  gene symbol: MAN2B1
  hgvsc: ENST00000596512.1:n.92C>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470174
  ensembl transcript: ENST00000486847
  gene symbol: MAN2B1
  hgvsc: ENST00000486847.2:c.51C>T
  hgvsp: ENST00000486847.2:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000395473
  ensembl transcript: ENST00000456935
  gene symbol: MAN2B1
  hgvsc: ENST00000456935.2:c.51C>T
  hgvsp: ENST00000456935.2:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000600281
  gene symbol: MAN2B1
  hgvsc: ENST00000600281.1:n.92C>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470533
  ensembl transcript: ENST00000598876
  gene symbol: MAN2B1
  hgvsc: ENST00000598876.1:c.51C>T
  hgvsp: ENST00000598876.1:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6826
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10962
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35313
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2465
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8061
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asp17Asp
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

19-12777466-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12777466
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12777466
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 15052
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000596512
  gene symbol: MAN2B1
  hgvsc: ENST00000596512.1:n.91A>G
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000600281
  gene symbol: MAN2B1
  hgvsc: ENST00000600281.1:n.91A>G
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000466794
  gene symbol: MAN2B1
  hgvsc: ENST00000466794.1:n.32A>G
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000395473
  ensembl transcript: ENST00000456935
  gene symbol: MAN2B1
  hgvsc: ENST00000456935.2:c.50A>G
  hgvsp: ENSP00000395473.2:p.Asp17Gly
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470174
  ensembl transcript: ENST00000486847
  gene symbol: MAN2B1
  hgvsc: ENST00000486847.2:c.50A>G
  hgvsp: ENSP00000470174.1:p.Asp17Gly
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000221363
  ensembl transcript: ENST00000221363
  gene symbol: MAN2B1
  hgvsc: ENST00000221363.4:c.50A>G
  hgvsp: ENSP00000221363.4:p.Asp17Gly
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470533
  ensembl transcript: ENST00000598876
  gene symbol: MAN2B1
  hgvsc: ENST00000598876.1:c.50A>G
  hgvsp: ENSP00000470533.1:p.Asp17Gly
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269590
  ensembl protein: ENSP00000472710
  ensembl transcript: ENST00000597961
  gene symbol: CTD-2192J16.24
  hgvsc: ENST00000597961.1:c.151-847A>G
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10868
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2009
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35299
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1999
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7925
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3592
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asp17Gly
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ

19-12777468-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12777468
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12777468
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 14780
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000596512
  gene symbol: MAN2B1
  hgvsc: ENST00000596512.1:n.89G>A
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000395473
  ensembl transcript: ENST00000456935
  gene symbol: MAN2B1
  hgvsc: ENST00000456935.2:c.48G>A
  hgvsp: ENST00000456935.2:c.48G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000221363
  ensembl transcript: ENST00000221363
  gene symbol: MAN2B1
  hgvsc: ENST00000221363.4:c.48G>A
  hgvsp: ENST00000221363.4:c.48G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470533
  ensembl transcript: ENST00000598876
  gene symbol: MAN2B1
  hgvsc: ENST00000598876.1:c.48G>A
  hgvsp: ENST00000598876.1:c.48G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000466794
  gene symbol: MAN2B1
  hgvsc: ENST00000466794.1:n.30G>A
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000600281
  gene symbol: MAN2B1
  hgvsc: ENST00000600281.1:n.89G>A
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470174
  ensembl transcript: ENST00000486847
  gene symbol: MAN2B1
  hgvsc: ENST00000486847.2:c.48G>A
  hgvsp: ENST00000486847.2:c.48G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269590
  ensembl protein: ENSP00000472710
  ensembl transcript: ENST00000597961
  gene symbol: CTD-2192J16.24
  hgvsc: ENST00000597961.1:c.151-849G>A
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 10305
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35540
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33318
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2908
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7069
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1089
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu16Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/19-12777475-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12777475
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12777475
    reference: chr 19
allele count: 1
allele frequency: 6.90035881865857e-5
allele num: 14492
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269590
  ensembl protein: ENSP00000472710
  ensembl transcript: ENST00000597961
  gene symbol: CTD-2192J16.24
  hgvsc: ENST00000597961.1:c.151-856G>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000395473
  ensembl transcript: ENST00000456935
  gene symbol: MAN2B1
  hgvsc: ENST00000456935.2:c.41G>T
  hgvsp: ENSP00000395473.2:p.Gly14Val
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000466794
  gene symbol: MAN2B1
  hgvsc: ENST00000466794.1:n.23G>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000596512
  gene symbol: MAN2B1
  hgvsc: ENST00000596512.1:n.82G>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470533
  ensembl transcript: ENST00000598876
  gene symbol: MAN2B1
  hgvsc: ENST00000598876.1:c.41G>T
  hgvsp: ENSP00000470533.1:p.Gly14Val
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470174
  ensembl transcript: ENST00000486847
  gene symbol: MAN2B1
  hgvsc: ENST00000486847.2:c.41G>T
  hgvsp: ENSP00000470174.1:p.Gly14Val
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000600281
  gene symbol: MAN2B1
  hgvsc: ENST00000600281.1:n.82G>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000221363
  ensembl transcript: ENST00000221363
  gene symbol: MAN2B1
  hgvsc: ENST00000221363.4:c.41G>T
  hgvsp: ENSP00000221363.4:p.Gly14Val
  variant of: http://identifiers.org/hgnc/6826
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9918
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35864
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1957
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7323
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1144
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly14Val
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
population: African
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD

19-12777479-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12777479
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12777479
    reference: chr 19
allele count: 1
allele frequency: 7.00770847932726e-5
allele num: 14270
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269590
  ensembl protein: ENSP00000472710
  ensembl transcript: ENST00000597961
  gene symbol: CTD-2192J16.24
  hgvsc: ENST00000597961.1:c.151-860C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000466794
  gene symbol: MAN2B1
  hgvsc: ENST00000466794.1:n.19C>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000600281
  gene symbol: MAN2B1
  hgvsc: ENST00000600281.1:n.78C>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000596512
  gene symbol: MAN2B1
  hgvsc: ENST00000596512.1:n.78C>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000395473
  ensembl transcript: ENST00000456935
  gene symbol: MAN2B1
  hgvsc: ENST00000456935.2:c.37C>T
  hgvsp: ENSP00000395473.2:p.Arg13Cys
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470533
  ensembl transcript: ENST00000598876
  gene symbol: MAN2B1
  hgvsc: ENST00000598876.1:c.37C>T
  hgvsp: ENSP00000470533.1:p.Arg13Cys
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470174
  ensembl transcript: ENST00000486847
  gene symbol: MAN2B1
  hgvsc: ENST00000486847.2:c.37C>T
  hgvsp: ENSP00000470174.1:p.Arg13Cys
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000221363
  ensembl transcript: ENST00000221363
  gene symbol: MAN2B1
  hgvsc: ENST00000221363.4:c.37C>T
  hgvsp: ENSP00000221363.4:p.Arg13Cys
  variant of: http://identifiers.org/hgnc/6826
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9620
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36040
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg13Cys
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

19-12777481-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12777481
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12777481
    reference: chr 19
allele count: 2
allele frequency: 1.410437235543018e-4
allele num: 14180
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470533
  ensembl transcript: ENST00000598876
  gene symbol: MAN2B1
  hgvsc: ENST00000598876.1:c.35C>A
  hgvsp: ENSP00000470533.1:p.Ala12Asp
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470174
  ensembl transcript: ENST00000486847
  gene symbol: MAN2B1
  hgvsc: ENST00000486847.2:c.35C>A
  hgvsp: ENSP00000470174.1:p.Ala12Asp
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000221363
  ensembl transcript: ENST00000221363
  gene symbol: MAN2B1
  hgvsc: ENST00000221363.4:c.35C>A
  hgvsp: ENSP00000221363.4:p.Ala12Asp
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269590
  ensembl protein: ENSP00000472710
  ensembl transcript: ENST00000597961
  gene symbol: CTD-2192J16.24
  hgvsc: ENST00000597961.1:c.151-862C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000596512
  gene symbol: MAN2B1
  hgvsc: ENST00000596512.1:n.76C>A
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000466794
  gene symbol: MAN2B1
  hgvsc: ENST00000466794.1:n.17C>A
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000395473
  ensembl transcript: ENST00000456935
  gene symbol: MAN2B1
  hgvsc: ENST00000456935.2:c.35C>A
  hgvsp: ENSP00000395473.2:p.Ala12Asp
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000600281
  gene symbol: MAN2B1
  hgvsc: ENST00000600281.1:n.76C>A
  variant of: http://identifiers.org/hgnc/6826
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36045
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9442
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1080
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1921
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1078
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3557
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala12Asp
num of homozygotes: 1
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP

19-12777482-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12777482
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12777482
    reference: chr 19
allele count: 2
allele frequency: 1.435956346927053e-4
allele num: 13928
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470174
  ensembl transcript: ENST00000486847
  gene symbol: MAN2B1
  hgvsc: ENST00000486847.2:c.34G>A
  hgvsp: ENSP00000470174.1:p.Ala12Thr
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000395473
  ensembl transcript: ENST00000456935
  gene symbol: MAN2B1
  hgvsc: ENST00000456935.2:c.34G>A
  hgvsp: ENSP00000395473.2:p.Ala12Thr
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000466794
  gene symbol: MAN2B1
  hgvsc: ENST00000466794.1:n.16G>A
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000221363
  ensembl transcript: ENST00000221363
  gene symbol: MAN2B1
  hgvsc: ENST00000221363.4:c.34G>A
  hgvsp: ENSP00000221363.4:p.Ala12Thr
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000596512
  gene symbol: MAN2B1
  hgvsc: ENST00000596512.1:n.75G>A
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000600281
  gene symbol: MAN2B1
  hgvsc: ENST00000600281.1:n.75G>A
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269590
  ensembl protein: ENSP00000472710
  ensembl transcript: ENST00000597961
  gene symbol: CTD-2192J16.24
  hgvsc: ENST00000597961.1:c.151-863G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470533
  ensembl transcript: ENST00000598876
  gene symbol: MAN2B1
  hgvsc: ENST00000598876.1:c.34G>A
  hgvsp: ENSP00000470533.1:p.Ala12Thr
  variant of: http://identifiers.org/hgnc/6826
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36010
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8832
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3483
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34049
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1074
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1541
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala12Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-12777497-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12777497
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12777497
    reference: chr 19
allele count: 5
allele frequency: 3.704252481849163e-4
allele num: 13498
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470533
  ensembl transcript: ENST00000598876
  gene symbol: MAN2B1
  hgvsc: ENST00000598876.1:c.19G>C
  hgvsp: ENSP00000470533.1:p.Ala7Pro
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000600281
  gene symbol: MAN2B1
  hgvsc: ENST00000600281.1:n.60G>C
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269590
  ensembl protein: ENSP00000472710
  ensembl transcript: ENST00000597961
  gene symbol: CTD-2192J16.24
  hgvsc: ENST00000597961.1:c.151-878G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000466794
  gene symbol: MAN2B1
  hgvsc: ENST00000466794.1:n.1G>C
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000596512
  gene symbol: MAN2B1
  hgvsc: ENST00000596512.1:n.60G>C
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000395473
  ensembl transcript: ENST00000456935
  gene symbol: MAN2B1
  hgvsc: ENST00000456935.2:c.19G>C
  hgvsp: ENSP00000395473.2:p.Ala7Pro
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470174
  ensembl transcript: ENST00000486847
  gene symbol: MAN2B1
  hgvsc: ENST00000486847.2:c.19G>C
  hgvsp: ENSP00000470174.1:p.Ala7Pro
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000221363
  ensembl transcript: ENST00000221363
  gene symbol: MAN2B1
  hgvsc: ENST00000221363.4:c.19G>C
  hgvsp: ENSP00000221363.4:p.Ala7Pro
  variant of: http://identifiers.org/hgnc/6826
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7001
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36158
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1936
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3454
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5614
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1754
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala7Pro
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/19-12777509-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12777509
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12777509
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 13124
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000600281
  gene symbol: MAN2B1
  hgvsc: ENST00000600281.1:n.48G>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000395473
  ensembl transcript: ENST00000456935
  gene symbol: MAN2B1
  hgvsc: ENST00000456935.2:c.7G>T
  hgvsp: ENSP00000395473.2:p.Ala3Ser
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470533
  ensembl transcript: ENST00000598876
  gene symbol: MAN2B1
  hgvsc: ENST00000598876.1:c.7G>T
  hgvsp: ENSP00000470533.1:p.Ala3Ser
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000596512
  gene symbol: MAN2B1
  hgvsc: ENST00000596512.1:n.48G>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470174
  ensembl transcript: ENST00000486847
  gene symbol: MAN2B1
  hgvsc: ENST00000486847.2:c.7G>T
  hgvsp: ENSP00000470174.1:p.Ala3Ser
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000221363
  ensembl transcript: ENST00000221363
  gene symbol: MAN2B1
  hgvsc: ENST00000221363.4:c.7G>T
  hgvsp: ENSP00000221363.4:p.Ala3Ser
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269590
  ensembl protein: ENSP00000472710
  ensembl transcript: ENST00000597961
  gene symbol: CTD-2192J16.24
  hgvsc: ENST00000597961.1:c.151-890G>T
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35370
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4907
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2046
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala3Ser
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: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

19-12777539-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12777539
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12777539
    reference: chr 19
allele count: 1
allele frequency: 8.152616990053807e-5
allele num: 12266
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000395473
  ensembl transcript: ENST00000456935
  gene symbol: MAN2B1
  hgvsc: ENST00000456935.2:c.-24A>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000600281
  gene symbol: MAN2B1
  hgvsc: ENST00000600281.1:n.18A>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269590
  ensembl protein: ENSP00000472710
  ensembl transcript: ENST00000597961
  gene symbol: CTD-2192J16.24
  hgvsc: ENST00000597961.1:c.151-920A>T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470533
  ensembl transcript: ENST00000598876
  gene symbol: MAN2B1
  hgvsc: ENST00000598876.1:c.-24A>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000596512
  gene symbol: MAN2B1
  hgvsc: ENST00000596512.1:n.18A>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000221363
  ensembl transcript: ENST00000221363
  gene symbol: MAN2B1
  hgvsc: ENST00000221363.4:c.-24A>T
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470174
  ensembl transcript: ENST00000486847
  gene symbol: MAN2B1
  hgvsc: ENST00000486847.2:c.-24A>T
  variant of: http://identifiers.org/hgnc/6826
canonical: true
consequence: 5' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28864
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1423
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3931
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2830
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum

19-12777544-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12777544
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12777544
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 12090
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000600281
  gene symbol: MAN2B1
  hgvsc: ENST00000600281.1:n.13G>A
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000596512
  gene symbol: MAN2B1
  hgvsc: ENST00000596512.1:n.13G>A
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470533
  ensembl transcript: ENST00000598876
  gene symbol: MAN2B1
  hgvsc: ENST00000598876.1:c.-29G>A
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000221363
  ensembl transcript: ENST00000221363
  gene symbol: MAN2B1
  hgvsc: ENST00000221363.4:c.-29G>A
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470174
  ensembl transcript: ENST00000486847
  gene symbol: MAN2B1
  hgvsc: ENST00000486847.2:c.-29G>A
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000395473
  ensembl transcript: ENST00000456935
  gene symbol: MAN2B1
  hgvsc: ENST00000456935.2:c.-29G>A
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269590
  ensembl protein: ENSP00000472710
  ensembl transcript: ENST00000597961
  gene symbol: CTD-2192J16.24
  hgvsc: ENST00000597961.1:c.151-925G>A
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27327
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 934
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1269
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22803
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

19-12777545-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12777545
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12777545
    reference: chr 19
allele count: 1
allele frequency: 8.287750704458811e-5
allele num: 12066
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000221363
  ensembl transcript: ENST00000221363
  gene symbol: MAN2B1
  hgvsc: ENST00000221363.4:c.-30C>G
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000395473
  ensembl transcript: ENST00000456935
  gene symbol: MAN2B1
  hgvsc: ENST00000456935.2:c.-30C>G
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470533
  ensembl transcript: ENST00000598876
  gene symbol: MAN2B1
  hgvsc: ENST00000598876.1:c.-30C>G
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000596512
  gene symbol: MAN2B1
  hgvsc: ENST00000596512.1:n.12C>G
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104774
  ensembl protein: ENSP00000470174
  ensembl transcript: ENST00000486847
  gene symbol: MAN2B1
  hgvsc: ENST00000486847.2:c.-30C>G
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104774
  ensembl transcript: ENST00000600281
  gene symbol: MAN2B1
  hgvsc: ENST00000600281.1:n.12C>G
  variant of: http://identifiers.org/hgnc/6826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269590
  ensembl protein: ENSP00000472710
  ensembl transcript: ENST00000597961
  gene symbol: CTD-2192J16.24
  hgvsc: ENST00000597961.1:c.151-926C>G
canonical: true
consequence: 5' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4938
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

19-12779133-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12779133
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12779133
    reference: chr 19
allele count: 1
allele frequency: 1.562255897516013e-5
allele num: 64010
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269590
  ensembl protein: ENSP00000472710
  ensembl transcript: ENST00000597961
  gene symbol: CTD-2192J16.24
  hgvsc: ENST00000597961.1:c.150+809C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl protein: ENSP00000448722
  ensembl transcript: ENST00000548381
  gene symbol: WDR83
  hgvsc: ENST00000548381.1:c.-156-189G>A
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105583
  ensembl protein: ENSP00000471797
  ensembl transcript: ENST00000598732
  gene symbol: WDR83OS
  hgvsc: ENST00000598732.1:c.*197C>T
  variant of: http://identifiers.org/hgnc/30203
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105583
  ensembl protein: ENSP00000222190
  ensembl transcript: ENST00000222190
  gene symbol: WDR83OS
  hgvsc: ENST00000222190.5:c.*40C>T
  variant of: http://identifiers.org/hgnc/30203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl transcript: ENST00000546754
  gene symbol: WDR83
  hgvsc: ENST00000546754.1:n.192-189G>A
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105583
  ensembl protein: ENSP00000468969
  ensembl transcript: ENST00000596731
  gene symbol: WDR83OS
  hgvsc: ENST00000596731.1:c.*40C>T
  variant of: http://identifiers.org/hgnc/30203
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl protein: ENSP00000450416
  ensembl transcript: ENST00000553179
  gene symbol: WDR83
  hgvsc: ENST00000553179.1:c.-156-189G>A
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl protein: ENSP00000402653
  ensembl transcript: ENST00000418543
  gene symbol: WDR83
  hgvsc: ENST00000418543.3:c.-156-189G>A
  variant of: http://identifiers.org/hgnc/32672
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14841
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21350
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3235
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5493
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5174
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6412
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1620
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3546
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2988
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1617
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1540
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

19-12779134-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12779134
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12779134
    reference: chr 19
allele count: 1
allele frequency: 1.552891483943102e-5
allele num: 64396
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105583
  ensembl protein: ENSP00000468969
  ensembl transcript: ENST00000596731
  gene symbol: WDR83OS
  hgvsc: ENST00000596731.1:c.*39C>A
  variant of: http://identifiers.org/hgnc/30203
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl protein: ENSP00000402653
  ensembl transcript: ENST00000418543
  gene symbol: WDR83
  hgvsc: ENST00000418543.3:c.-156-188G>T
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105583
  ensembl protein: ENSP00000222190
  ensembl transcript: ENST00000222190
  gene symbol: WDR83OS
  hgvsc: ENST00000222190.5:c.*39C>A
  variant of: http://identifiers.org/hgnc/30203
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269590
  ensembl protein: ENSP00000472710
  ensembl transcript: ENST00000597961
  gene symbol: CTD-2192J16.24
  hgvsc: ENST00000597961.1:c.150+808C>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl protein: ENSP00000450416
  ensembl transcript: ENST00000553179
  gene symbol: WDR83
  hgvsc: ENST00000553179.1:c.-156-188G>T
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl protein: ENSP00000448722
  ensembl transcript: ENST00000548381
  gene symbol: WDR83
  hgvsc: ENST00000548381.1:c.-156-188G>T
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl transcript: ENST00000546754
  gene symbol: WDR83
  hgvsc: ENST00000546754.1:n.192-188G>T
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105583
  ensembl protein: ENSP00000471797
  ensembl transcript: ENST00000598732
  gene symbol: WDR83OS
  hgvsc: ENST00000598732.1:c.*196C>A
  variant of: http://identifiers.org/hgnc/30203
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14785
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6559
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5403
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5035
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3309
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21430
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1482
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3760
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1300
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5911
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17678
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1651
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

19-12779138-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12779138
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12779138
    reference: chr 19
allele count: 72
allele frequency: 1.147556660610118e-3
allele num: 62742
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl protein: ENSP00000448722
  ensembl transcript: ENST00000548381
  gene symbol: WDR83
  hgvsc: ENST00000548381.1:c.-156-184G>A
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl protein: ENSP00000450416
  ensembl transcript: ENST00000553179
  gene symbol: WDR83
  hgvsc: ENST00000553179.1:c.-156-184G>A
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl transcript: ENST00000546754
  gene symbol: WDR83
  hgvsc: ENST00000546754.1:n.192-184G>A
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269590
  ensembl protein: ENSP00000472710
  ensembl transcript: ENST00000597961
  gene symbol: CTD-2192J16.24
  hgvsc: ENST00000597961.1:c.150+804C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105583
  ensembl protein: ENSP00000222190
  ensembl transcript: ENST00000222190
  gene symbol: WDR83OS
  hgvsc: ENST00000222190.5:c.*35C>T
  variant of: http://identifiers.org/hgnc/30203
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105583
  ensembl protein: ENSP00000471797
  ensembl transcript: ENST00000598732
  gene symbol: WDR83OS
  hgvsc: ENST00000598732.1:c.*192C>T
  variant of: http://identifiers.org/hgnc/30203
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl protein: ENSP00000402653
  ensembl transcript: ENST00000418543
  gene symbol: WDR83
  hgvsc: ENST00000418543.3:c.-156-184G>A
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105583
  ensembl protein: ENSP00000468969
  ensembl transcript: ENST00000596731
  gene symbol: WDR83OS
  hgvsc: ENST00000596731.1:c.*35C>T
  variant of: http://identifiers.org/hgnc/30203
canonical: true
consequence: 3' UTR
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 3.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 4842
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3571
  bin: 2.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 22323
  bin: 7.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 3619
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8258
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13983
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 3.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 981
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3315
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2828
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2064
  bin: 1.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1872
  bin: 1.75e1
  variant carriers: 3
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/19-12779140-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12779140
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12779140
    reference: chr 19
allele count: 15
allele frequency: 2.306273062730627e-4
allele num: 65040
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105583
  ensembl protein: ENSP00000468969
  ensembl transcript: ENST00000596731
  gene symbol: WDR83OS
  hgvsc: ENST00000596731.1:c.*33G>T
  variant of: http://identifiers.org/hgnc/30203
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl protein: ENSP00000450416
  ensembl transcript: ENST00000553179
  gene symbol: WDR83
  hgvsc: ENST00000553179.1:c.-156-182C>A
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105583
  ensembl protein: ENSP00000222190
  ensembl transcript: ENST00000222190
  gene symbol: WDR83OS
  hgvsc: ENST00000222190.5:c.*33G>T
  variant of: http://identifiers.org/hgnc/30203
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269590
  ensembl protein: ENSP00000472710
  ensembl transcript: ENST00000597961
  gene symbol: CTD-2192J16.24
  hgvsc: ENST00000597961.1:c.150+802G>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105583
  ensembl protein: ENSP00000471797
  ensembl transcript: ENST00000598732
  gene symbol: WDR83OS
  hgvsc: ENST00000598732.1:c.*190G>T
  variant of: http://identifiers.org/hgnc/30203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl transcript: ENST00000546754
  gene symbol: WDR83
  hgvsc: ENST00000546754.1:n.192-182C>A
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl protein: ENSP00000448722
  ensembl transcript: ENST00000548381
  gene symbol: WDR83
  hgvsc: ENST00000548381.1:c.-156-182C>A
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl protein: ENSP00000402653
  ensembl transcript: ENST00000418543
  gene symbol: WDR83
  hgvsc: ENST00000418543.3:c.-156-182C>A
  variant of: http://identifiers.org/hgnc/32672
canonical: true
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4824
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9204
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 13462
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3210
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3751
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22372
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4436
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1425
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 3059
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1812
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5484
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

19-12779143-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12779143
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12779143
    reference: chr 19
allele count: 1
allele frequency: 1.488892859269847e-5
allele num: 67164
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105583
  ensembl protein: ENSP00000471797
  ensembl transcript: ENST00000598732
  gene symbol: WDR83OS
  hgvsc: ENST00000598732.1:c.*187C>G
  variant of: http://identifiers.org/hgnc/30203
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl protein: ENSP00000450416
  ensembl transcript: ENST00000553179
  gene symbol: WDR83
  hgvsc: ENST00000553179.1:c.-156-179G>C
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105583
  ensembl protein: ENSP00000468969
  ensembl transcript: ENST00000596731
  gene symbol: WDR83OS
  hgvsc: ENST00000596731.1:c.*30C>G
  variant of: http://identifiers.org/hgnc/30203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl transcript: ENST00000546754
  gene symbol: WDR83
  hgvsc: ENST00000546754.1:n.192-179G>C
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105583
  ensembl protein: ENSP00000222190
  ensembl transcript: ENST00000222190
  gene symbol: WDR83OS
  hgvsc: ENST00000222190.5:c.*30C>G
  variant of: http://identifiers.org/hgnc/30203
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl protein: ENSP00000402653
  ensembl transcript: ENST00000418543
  gene symbol: WDR83
  hgvsc: ENST00000418543.3:c.-156-179G>C
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl protein: ENSP00000448722
  ensembl transcript: ENST00000548381
  gene symbol: WDR83
  hgvsc: ENST00000548381.1:c.-156-179G>C
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269590
  ensembl protein: ENSP00000472710
  ensembl transcript: ENST00000597961
  gene symbol: CTD-2192J16.24
  hgvsc: ENST00000597961.1:c.150+799C>G
canonical: true
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4041
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4255
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12723
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22468
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10562
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2111
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2721
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1385
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3930
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5252
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

19-12779144-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12779144
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12779144
    reference: chr 19
allele count: 1
allele frequency: 1.481042654028436e-5
allele num: 67520
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105583
  ensembl protein: ENSP00000222190
  ensembl transcript: ENST00000222190
  gene symbol: WDR83OS
  hgvsc: ENST00000222190.5:c.*29C>T
  variant of: http://identifiers.org/hgnc/30203
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105583
  ensembl protein: ENSP00000471797
  ensembl transcript: ENST00000598732
  gene symbol: WDR83OS
  hgvsc: ENST00000598732.1:c.*186C>T
  variant of: http://identifiers.org/hgnc/30203
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl protein: ENSP00000448722
  ensembl transcript: ENST00000548381
  gene symbol: WDR83
  hgvsc: ENST00000548381.1:c.-156-178G>A
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269590
  ensembl protein: ENSP00000472710
  ensembl transcript: ENST00000597961
  gene symbol: CTD-2192J16.24
  hgvsc: ENST00000597961.1:c.150+798C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl protein: ENSP00000450416
  ensembl transcript: ENST00000553179
  gene symbol: WDR83
  hgvsc: ENST00000553179.1:c.-156-178G>A
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl protein: ENSP00000402653
  ensembl transcript: ENST00000418543
  gene symbol: WDR83
  hgvsc: ENST00000418543.3:c.-156-178G>A
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl transcript: ENST00000546754
  gene symbol: WDR83
  hgvsc: ENST00000546754.1:n.192-178G>A
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105583
  ensembl protein: ENSP00000468969
  ensembl transcript: ENST00000596731
  gene symbol: WDR83OS
  hgvsc: ENST00000596731.1:c.*29C>T
  variant of: http://identifiers.org/hgnc/30203
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12422
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11068
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4038
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4100
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22558
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2577
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3744
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: QD

19-12779145-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12779145
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12779145
    reference: chr 19
allele count: 12
allele frequency: 1.806195249706493e-4
allele num: 66438
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105583
  ensembl protein: ENSP00000468969
  ensembl transcript: ENST00000596731
  gene symbol: WDR83OS
  hgvsc: ENST00000596731.1:c.*28A>C
  variant of: http://identifiers.org/hgnc/30203
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl protein: ENSP00000402653
  ensembl transcript: ENST00000418543
  gene symbol: WDR83
  hgvsc: ENST00000418543.3:c.-156-177T>G
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl transcript: ENST00000546754
  gene symbol: WDR83
  hgvsc: ENST00000546754.1:n.192-177T>G
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105583
  ensembl protein: ENSP00000471797
  ensembl transcript: ENST00000598732
  gene symbol: WDR83OS
  hgvsc: ENST00000598732.1:c.*185A>C
  variant of: http://identifiers.org/hgnc/30203
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105583
  ensembl protein: ENSP00000222190
  ensembl transcript: ENST00000222190
  gene symbol: WDR83OS
  hgvsc: ENST00000222190.5:c.*28A>C
  variant of: http://identifiers.org/hgnc/30203
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269590
  ensembl protein: ENSP00000472710
  ensembl transcript: ENST00000597961
  gene symbol: CTD-2192J16.24
  hgvsc: ENST00000597961.1:c.150+797A>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl protein: ENSP00000450416
  ensembl transcript: ENST00000553179
  gene symbol: WDR83
  hgvsc: ENST00000553179.1:c.-156-177T>G
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl protein: ENSP00000448722
  ensembl transcript: ENST00000548381
  gene symbol: WDR83
  hgvsc: ENST00000548381.1:c.-156-177T>G
  variant of: http://identifiers.org/hgnc/32672
canonical: true
consequence: 3' UTR
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22366
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3792
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4264
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11115
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12458
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2703
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20769
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3594
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1588
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1096
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4280
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: T
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

19-12779157-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12779157
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12779157
    reference: chr 19
allele count: 2
allele frequency: 2.648515507058294e-5
allele num: 75514
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl transcript: ENST00000546754
  gene symbol: WDR83
  hgvsc: ENST00000546754.1:n.192-165C>T
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl protein: ENSP00000450416
  ensembl transcript: ENST00000553179
  gene symbol: WDR83
  hgvsc: ENST00000553179.1:c.-156-165C>T
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105583
  ensembl protein: ENSP00000468969
  ensembl transcript: ENST00000596731
  gene symbol: WDR83OS
  hgvsc: ENST00000596731.1:c.*16G>A
  variant of: http://identifiers.org/hgnc/30203
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105583
  ensembl protein: ENSP00000471797
  ensembl transcript: ENST00000598732
  gene symbol: WDR83OS
  hgvsc: ENST00000598732.1:c.*173G>A
  variant of: http://identifiers.org/hgnc/30203
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl protein: ENSP00000448722
  ensembl transcript: ENST00000548381
  gene symbol: WDR83
  hgvsc: ENST00000548381.1:c.-156-165C>T
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl protein: ENSP00000402653
  ensembl transcript: ENST00000418543
  gene symbol: WDR83
  hgvsc: ENST00000418543.3:c.-156-165C>T
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105583
  ensembl protein: ENSP00000222190
  ensembl transcript: ENST00000222190
  gene symbol: WDR83OS
  hgvsc: ENST00000222190.5:c.*16G>A
  variant of: http://identifiers.org/hgnc/30203
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269590
  ensembl protein: ENSP00000472710
  ensembl transcript: ENST00000597961
  gene symbol: CTD-2192J16.24
  hgvsc: ENST00000597961.1:c.150+785G>A
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18474
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8709
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5304
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21396
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1369
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3257
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

19-12779159-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12779159
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12779159
    reference: chr 19
allele count: 3
allele frequency: 3.874767513949163e-5
allele num: 77424
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl protein: ENSP00000450416
  ensembl transcript: ENST00000553179
  gene symbol: WDR83
  hgvsc: ENST00000553179.1:c.-156-163C>G
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105583
  ensembl protein: ENSP00000471797
  ensembl transcript: ENST00000598732
  gene symbol: WDR83OS
  hgvsc: ENST00000598732.1:c.*171G>C
  variant of: http://identifiers.org/hgnc/30203
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl protein: ENSP00000448722
  ensembl transcript: ENST00000548381
  gene symbol: WDR83
  hgvsc: ENST00000548381.1:c.-156-163C>G
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl transcript: ENST00000546754
  gene symbol: WDR83
  hgvsc: ENST00000546754.1:n.192-163C>G
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl protein: ENSP00000402653
  ensembl transcript: ENST00000418543
  gene symbol: WDR83
  hgvsc: ENST00000418543.3:c.-156-163C>G
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105583
  ensembl protein: ENSP00000468969
  ensembl transcript: ENST00000596731
  gene symbol: WDR83OS
  hgvsc: ENST00000596731.1:c.*14G>C
  variant of: http://identifiers.org/hgnc/30203
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269590
  ensembl protein: ENSP00000472710
  ensembl transcript: ENST00000597961
  gene symbol: CTD-2192J16.24
  hgvsc: ENST00000597961.1:c.150+783G>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105583
  ensembl protein: ENSP00000222190
  ensembl transcript: ENST00000222190
  gene symbol: WDR83OS
  hgvsc: ENST00000222190.5:c.*14G>C
  variant of: http://identifiers.org/hgnc/30203
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5524
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19718
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20487
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8103
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1273
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20690
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20954
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2999
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: African
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

19-12779162-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12779162
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12779162
    reference: chr 19
allele count: 1
allele frequency: 1.254484783099581e-5
allele num: 79714
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105583
  ensembl protein: ENSP00000222190
  ensembl transcript: ENST00000222190
  gene symbol: WDR83OS
  hgvsc: ENST00000222190.5:c.*11G>A
  variant of: http://identifiers.org/hgnc/30203
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269590
  ensembl protein: ENSP00000472710
  ensembl transcript: ENST00000597961
  gene symbol: CTD-2192J16.24
  hgvsc: ENST00000597961.1:c.150+780G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl transcript: ENST00000546754
  gene symbol: WDR83
  hgvsc: ENST00000546754.1:n.192-160C>T
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl protein: ENSP00000448722
  ensembl transcript: ENST00000548381
  gene symbol: WDR83
  hgvsc: ENST00000548381.1:c.-156-160C>T
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105583
  ensembl protein: ENSP00000471797
  ensembl transcript: ENST00000598732
  gene symbol: WDR83OS
  hgvsc: ENST00000598732.1:c.*168G>A
  variant of: http://identifiers.org/hgnc/30203
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl protein: ENSP00000402653
  ensembl transcript: ENST00000418543
  gene symbol: WDR83
  hgvsc: ENST00000418543.3:c.-156-160C>T
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105583
  ensembl protein: ENSP00000468969
  ensembl transcript: ENST00000596731
  gene symbol: WDR83OS
  hgvsc: ENST00000596731.1:c.*11G>A
  variant of: http://identifiers.org/hgnc/30203
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl protein: ENSP00000450416
  ensembl transcript: ENST00000553179
  gene symbol: WDR83
  hgvsc: ENST00000553179.1:c.-156-160C>T
  variant of: http://identifiers.org/hgnc/32672
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21385
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7319
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5763
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19628
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2936
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 968
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20105
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD

19-12779169-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12779169
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12779169
    reference: chr 19
allele count: 1
allele frequency: 1.153429144847632e-5
allele num: 86698
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105583
  ensembl protein: ENSP00000471797
  ensembl transcript: ENST00000598732
  gene symbol: WDR83OS
  hgvsc: ENST00000598732.1:c.*161C>T
  variant of: http://identifiers.org/hgnc/30203
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl protein: ENSP00000450416
  ensembl transcript: ENST00000553179
  gene symbol: WDR83
  hgvsc: ENST00000553179.1:c.-156-153G>A
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl protein: ENSP00000448722
  ensembl transcript: ENST00000548381
  gene symbol: WDR83
  hgvsc: ENST00000548381.1:c.-156-153G>A
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105583
  ensembl protein: ENSP00000468969
  ensembl transcript: ENST00000596731
  gene symbol: WDR83OS
  hgvsc: ENST00000596731.1:c.*4C>T
  variant of: http://identifiers.org/hgnc/30203
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105583
  ensembl protein: ENSP00000222190
  ensembl transcript: ENST00000222190
  gene symbol: WDR83OS
  hgvsc: ENST00000222190.5:c.*4C>T
  variant of: http://identifiers.org/hgnc/30203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl transcript: ENST00000546754
  gene symbol: WDR83
  hgvsc: ENST00000546754.1:n.192-153G>A
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269590
  ensembl protein: ENSP00000472710
  ensembl transcript: ENST00000597961
  gene symbol: CTD-2192J16.24
  hgvsc: ENST00000597961.1:c.150+773C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl protein: ENSP00000402653
  ensembl transcript: ENST00000418543
  gene symbol: WDR83
  hgvsc: ENST00000418543.3:c.-156-153G>A
  variant of: http://identifiers.org/hgnc/32672
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5405
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2191
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6414
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26087
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16581
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1017
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1596
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 870
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1885
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1218
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ

19-12779170-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12779170
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12779170
    reference: chr 19
allele count: 5644
allele frequency: 6.303328121509939e-2
allele num: 89540
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl transcript: ENST00000546754
  gene symbol: WDR83
  hgvsc: ENST00000546754.1:n.192-152G>A
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105583
  ensembl protein: ENSP00000471797
  ensembl transcript: ENST00000598732
  gene symbol: WDR83OS
  hgvsc: ENST00000598732.1:c.*160C>T
  variant of: http://identifiers.org/hgnc/30203
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl protein: ENSP00000402653
  ensembl transcript: ENST00000418543
  gene symbol: WDR83
  hgvsc: ENST00000418543.3:c.-156-152G>A
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105583
  ensembl protein: ENSP00000468969
  ensembl transcript: ENST00000596731
  gene symbol: WDR83OS
  hgvsc: ENST00000596731.1:c.*3C>T
  variant of: http://identifiers.org/hgnc/30203
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105583
  ensembl protein: ENSP00000222190
  ensembl transcript: ENST00000222190
  gene symbol: WDR83OS
  hgvsc: ENST00000222190.5:c.*3C>T
  variant of: http://identifiers.org/hgnc/30203
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269590
  ensembl protein: ENSP00000472710
  ensembl transcript: ENST00000597961
  gene symbol: CTD-2192J16.24
  hgvsc: ENST00000597961.1:c.150+772C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl protein: ENSP00000448722
  ensembl transcript: ENST00000548381
  gene symbol: WDR83
  hgvsc: ENST00000548381.1:c.-156-152G>A
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl protein: ENSP00000450416
  ensembl transcript: ENST00000553179
  gene symbol: WDR83
  hgvsc: ENST00000553179.1:c.-156-152G>A
  variant of: http://identifiers.org/hgnc/32672
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 2.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 69
genotype depth: GenotypeDepth
  all individuals: 15178
  bin: 7.5e0
  variant carriers: 225
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 5.25e1
  variant carriers: 203
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 100
genotype depth: GenotypeDepth
  all individuals: 25286
  bin: 2.25e1
  variant carriers: 593
genotype depth: GenotypeDepth
  all individuals: 2006
  bin: 1.75e1
  variant carriers: 800
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 4.25e1
  variant carriers: 203
genotype depth: GenotypeDepth
  all individuals: 6413
  bin: 2.75e1
  variant carriers: 397
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 3.75e1
  variant carriers: 272
genotype depth: GenotypeDepth
  all individuals: 5642
  bin: 1.25e1
  variant carriers: 668
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 3.25e1
  variant carriers: 304
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 4.75e1
  variant carriers: 221
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.75e1
  variant carriers: 254
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 142
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.25e1
  variant carriers: 91
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 167
genotype quality: GenotypeQuality
  all individuals: 5039
  bin: 9.75e1
  variant carriers: 4023
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 2.5e0
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 26099
  bin: 6.25e1
  variant carriers: 61
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 8.25e1
  variant carriers: 56
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 7.5e0
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 2912
  bin: 6.75e1
  variant carriers: 43
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 4.75e1
  variant carriers: 80
genotype quality: GenotypeQuality
  all individuals: 1789
  bin: 3.25e1
  variant carriers: 64
num of homozygotes: 1035
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ

19-12779177-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12779177
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12779177
    reference: chr 19
allele count: 1
allele frequency: 1.05358535094928e-5
allele num: 94914
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl protein: ENSP00000402653
  ensembl transcript: ENST00000418543
  gene symbol: WDR83
  hgvsc: ENST00000418543.3:c.-156-145C>T
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000105583
  ensembl protein: ENSP00000468969
  ensembl transcript: ENST00000596731
  gene symbol: WDR83OS
  hgvsc: ENST00000596731.1:c.317G>A
  hgvsp: ENSP00000468969.1:p.Trp106Ter
  variant of: http://identifiers.org/hgnc/30203
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl protein: ENSP00000450416
  ensembl transcript: ENST00000553179
  gene symbol: WDR83
  hgvsc: ENST00000553179.1:c.-156-145C>T
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl protein: ENSP00000448722
  ensembl transcript: ENST00000548381
  gene symbol: WDR83
  hgvsc: ENST00000548381.1:c.-156-145C>T
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000105583
  ensembl protein: ENSP00000222190
  ensembl transcript: ENST00000222190
  gene symbol: WDR83OS
  hgvsc: ENST00000222190.5:c.311G>A
  hgvsp: ENSP00000222190.5:p.Trp104Ter
  variant of: http://identifiers.org/hgnc/30203
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269590
  ensembl protein: ENSP00000472710
  ensembl transcript: ENST00000597961
  gene symbol: CTD-2192J16.24
  hgvsc: ENST00000597961.1:c.150+765G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105583
  ensembl protein: ENSP00000471797
  ensembl transcript: ENST00000598732
  gene symbol: WDR83OS
  hgvsc: ENST00000598732.1:c.*153G>A
  variant of: http://identifiers.org/hgnc/30203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl transcript: ENST00000546754
  gene symbol: WDR83
  hgvsc: ENST00000546754.1:n.192-145C>T
  variant of: http://identifiers.org/hgnc/32672
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28182
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4913
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2388
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12799
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7690
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30605
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1708
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Trp106Ter
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

19-12779185-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12779185
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12779185
    reference: chr 19
allele count: 3
allele frequency: 3.034655768880617e-5
allele num: 98858
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105583
  ensembl protein: ENSP00000468969
  ensembl transcript: ENST00000596731
  gene symbol: WDR83OS
  hgvsc: ENST00000596731.1:c.309G>A
  hgvsp: ENST00000596731.1:c.309G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30203
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl protein: ENSP00000402653
  ensembl transcript: ENST00000418543
  gene symbol: WDR83
  hgvsc: ENST00000418543.3:c.-156-137C>T
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl transcript: ENST00000546754
  gene symbol: WDR83
  hgvsc: ENST00000546754.1:n.192-137C>T
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105583
  ensembl protein: ENSP00000222190
  ensembl transcript: ENST00000222190
  gene symbol: WDR83OS
  hgvsc: ENST00000222190.5:c.303G>A
  hgvsp: ENST00000222190.5:c.303G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30203
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269590
  ensembl protein: ENSP00000472710
  ensembl transcript: ENST00000597961
  gene symbol: CTD-2192J16.24
  hgvsc: ENST00000597961.1:c.150+757G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl protein: ENSP00000450416
  ensembl transcript: ENST00000553179
  gene symbol: WDR83
  hgvsc: ENST00000553179.1:c.-156-137C>T
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl protein: ENSP00000448722
  ensembl transcript: ENST00000548381
  gene symbol: WDR83
  hgvsc: ENST00000548381.1:c.-156-137C>T
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105583
  ensembl protein: ENSP00000471797
  ensembl transcript: ENST00000598732
  gene symbol: WDR83OS
  hgvsc: ENST00000598732.1:c.*145G>A
  variant of: http://identifiers.org/hgnc/30203
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8303
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29969
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2469
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4442
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10884
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3648
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1250
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr103Thr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

19-12779186-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12779186
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12779186
    reference: chr 19
allele count: 1
allele frequency: 1.004116879204739e-5
allele num: 99590
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl protein: ENSP00000448722
  ensembl transcript: ENST00000548381
  gene symbol: WDR83
  hgvsc: ENST00000548381.1:c.-156-136G>A
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105583
  ensembl protein: ENSP00000222190
  ensembl transcript: ENST00000222190
  gene symbol: WDR83OS
  hgvsc: ENST00000222190.5:c.302C>T
  hgvsp: ENSP00000222190.5:p.Thr101Met
  variant of: http://identifiers.org/hgnc/30203
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl protein: ENSP00000450416
  ensembl transcript: ENST00000553179
  gene symbol: WDR83
  hgvsc: ENST00000553179.1:c.-156-136G>A
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105583
  ensembl protein: ENSP00000471797
  ensembl transcript: ENST00000598732
  gene symbol: WDR83OS
  hgvsc: ENST00000598732.1:c.*144C>T
  variant of: http://identifiers.org/hgnc/30203
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105583
  ensembl protein: ENSP00000468969
  ensembl transcript: ENST00000596731
  gene symbol: WDR83OS
  hgvsc: ENST00000596731.1:c.308C>T
  hgvsp: ENSP00000468969.1:p.Thr103Met
  variant of: http://identifiers.org/hgnc/30203
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269590
  ensembl protein: ENSP00000472710
  ensembl transcript: ENST00000597961
  gene symbol: CTD-2192J16.24
  hgvsc: ENST00000597961.1:c.150+756C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl protein: ENSP00000402653
  ensembl transcript: ENST00000418543
  gene symbol: WDR83
  hgvsc: ENST00000418543.3:c.-156-136G>A
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl transcript: ENST00000546754
  gene symbol: WDR83
  hgvsc: ENST00000546754.1:n.192-136G>A
  variant of: http://identifiers.org/hgnc/32672
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4347
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10467
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8483
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30216
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1114
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1246
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11310
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 7.5e0
  variant carriers: 1
hgvs: p.Thr103Met
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

19-12779191-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12779191
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12779191
    reference: chr 19
allele count: 1
allele frequency: 9.76810518295661e-6
allele num: 102374
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl protein: ENSP00000450416
  ensembl transcript: ENST00000553179
  gene symbol: WDR83
  hgvsc: ENST00000553179.1:c.-156-131G>A
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl protein: ENSP00000402653
  ensembl transcript: ENST00000418543
  gene symbol: WDR83
  hgvsc: ENST00000418543.3:c.-156-131G>A
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105583
  ensembl protein: ENSP00000471797
  ensembl transcript: ENST00000598732
  gene symbol: WDR83OS
  hgvsc: ENST00000598732.1:c.*139C>T
  variant of: http://identifiers.org/hgnc/30203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl transcript: ENST00000546754
  gene symbol: WDR83
  hgvsc: ENST00000546754.1:n.192-131G>A
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105583
  ensembl protein: ENSP00000468969
  ensembl transcript: ENST00000596731
  gene symbol: WDR83OS
  hgvsc: ENST00000596731.1:c.303C>T
  hgvsp: ENST00000596731.1:c.303C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30203
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105583
  ensembl protein: ENSP00000222190
  ensembl transcript: ENST00000222190
  gene symbol: WDR83OS
  hgvsc: ENST00000222190.5:c.297C>T
  hgvsp: ENST00000222190.5:c.297C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30203
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269590
  ensembl protein: ENSP00000472710
  ensembl transcript: ENST00000597961
  gene symbol: CTD-2192J16.24
  hgvsc: ENST00000597961.1:c.150+751C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl protein: ENSP00000448722
  ensembl transcript: ENST00000548381
  gene symbol: WDR83
  hgvsc: ENST00000548381.1:c.-156-131G>A
  variant of: http://identifiers.org/hgnc/32672
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2505
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4026
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31559
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8856
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9293
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34751
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1273
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1387
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1526
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro101Pro
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

19-12779196-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12779196
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12779196
    reference: chr 19
allele count: 1
allele frequency: 9.589014824616919e-6
allele num: 104286
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105583
  ensembl protein: ENSP00000222190
  ensembl transcript: ENST00000222190
  gene symbol: WDR83OS
  hgvsc: ENST00000222190.5:c.292C>A
  hgvsp: ENSP00000222190.5:p.Gln98Lys
  variant of: http://identifiers.org/hgnc/30203
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105583
  ensembl protein: ENSP00000471797
  ensembl transcript: ENST00000598732
  gene symbol: WDR83OS
  hgvsc: ENST00000598732.1:c.*134C>A
  variant of: http://identifiers.org/hgnc/30203
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl protein: ENSP00000448722
  ensembl transcript: ENST00000548381
  gene symbol: WDR83
  hgvsc: ENST00000548381.1:c.-156-126G>T
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl protein: ENSP00000402653
  ensembl transcript: ENST00000418543
  gene symbol: WDR83
  hgvsc: ENST00000418543.3:c.-156-126G>T
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105583
  ensembl protein: ENSP00000468969
  ensembl transcript: ENST00000596731
  gene symbol: WDR83OS
  hgvsc: ENST00000596731.1:c.298C>A
  hgvsp: ENSP00000468969.1:p.Gln100Lys
  variant of: http://identifiers.org/hgnc/30203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl transcript: ENST00000546754
  gene symbol: WDR83
  hgvsc: ENST00000546754.1:n.192-126G>T
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl protein: ENSP00000450416
  ensembl transcript: ENST00000553179
  gene symbol: WDR83
  hgvsc: ENST00000553179.1:c.-156-126G>T
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269590
  ensembl protein: ENSP00000472710
  ensembl transcript: ENST00000597961
  gene symbol: CTD-2192J16.24
  hgvsc: ENST00000597961.1:c.150+746C>A
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8375
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3750
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32393
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9280
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1424
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gln100Lys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

19-12779209-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12779209
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12779209
    reference: chr 19
allele count: 1
allele frequency: 9.279020135473694e-6
allele num: 107770
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105583
  ensembl protein: ENSP00000471797
  ensembl transcript: ENST00000598732
  gene symbol: WDR83OS
  hgvsc: ENST00000598732.1:c.*121T>C
  variant of: http://identifiers.org/hgnc/30203
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl protein: ENSP00000402653
  ensembl transcript: ENST00000418543
  gene symbol: WDR83
  hgvsc: ENST00000418543.3:c.-156-113A>G
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl transcript: ENST00000546754
  gene symbol: WDR83
  hgvsc: ENST00000546754.1:n.192-113A>G
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl protein: ENSP00000448722
  ensembl transcript: ENST00000548381
  gene symbol: WDR83
  hgvsc: ENST00000548381.1:c.-156-113A>G
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105583
  ensembl protein: ENSP00000468969
  ensembl transcript: ENST00000596731
  gene symbol: WDR83OS
  hgvsc: ENST00000596731.1:c.285T>C
  hgvsp: ENST00000596731.1:c.285T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30203
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105583
  ensembl protein: ENSP00000222190
  ensembl transcript: ENST00000222190
  gene symbol: WDR83OS
  hgvsc: ENST00000222190.5:c.279T>C
  hgvsp: ENST00000222190.5:c.279T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30203
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269590
  ensembl protein: ENSP00000472710
  ensembl transcript: ENST00000597961
  gene symbol: CTD-2192J16.24
  hgvsc: ENST00000597961.1:c.150+733T>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl protein: ENSP00000450416
  ensembl transcript: ENST00000553179
  gene symbol: WDR83
  hgvsc: ENST00000553179.1:c.-156-113A>G
  variant of: http://identifiers.org/hgnc/32672
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33064
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3618
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6691
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9980
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1949
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1353
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1359
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7850
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Tyr95Tyr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

19-12779223-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12779223
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12779223
    reference: chr 19
allele count: 3
allele frequency: 2.74323335771763e-5
allele num: 109360
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl protein: ENSP00000402653
  ensembl transcript: ENST00000418543
  gene symbol: WDR83
  hgvsc: ENST00000418543.3:c.-156-99C>T
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105583
  ensembl protein: ENSP00000222190
  ensembl transcript: ENST00000222190
  gene symbol: WDR83OS
  hgvsc: ENST00000222190.5:c.265G>A
  hgvsp: ENSP00000222190.5:p.Val89Met
  variant of: http://identifiers.org/hgnc/30203
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105583
  ensembl protein: ENSP00000468969
  ensembl transcript: ENST00000596731
  gene symbol: WDR83OS
  hgvsc: ENST00000596731.1:c.271G>A
  hgvsp: ENSP00000468969.1:p.Val91Met
  variant of: http://identifiers.org/hgnc/30203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl transcript: ENST00000546754
  gene symbol: WDR83
  hgvsc: ENST00000546754.1:n.192-99C>T
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269590
  ensembl protein: ENSP00000472710
  ensembl transcript: ENST00000597961
  gene symbol: CTD-2192J16.24
  hgvsc: ENST00000597961.1:c.150+719G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105583
  ensembl protein: ENSP00000471797
  ensembl transcript: ENST00000598732
  gene symbol: WDR83OS
  hgvsc: ENST00000598732.1:c.*107G>A
  variant of: http://identifiers.org/hgnc/30203
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl protein: ENSP00000450416
  ensembl transcript: ENST00000553179
  gene symbol: WDR83
  hgvsc: ENST00000553179.1:c.-156-99C>T
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl protein: ENSP00000448722
  ensembl transcript: ENST00000548381
  gene symbol: WDR83
  hgvsc: ENST00000548381.1:c.-156-99C>T
  variant of: http://identifiers.org/hgnc/32672
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2996
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2654
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10715
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4272
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5817
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31460
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1852
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1170
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1583
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7423
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val91Met
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP

19-12779224-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12779224
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12779224
    reference: chr 19
allele count: 2
allele frequency: 1.825617058565795e-5
allele num: 109552
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269590
  ensembl protein: ENSP00000472710
  ensembl transcript: ENST00000597961
  gene symbol: CTD-2192J16.24
  hgvsc: ENST00000597961.1:c.150+718C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105583
  ensembl protein: ENSP00000222190
  ensembl transcript: ENST00000222190
  gene symbol: WDR83OS
  hgvsc: ENST00000222190.5:c.264C>T
  hgvsp: ENST00000222190.5:c.264C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30203
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl protein: ENSP00000448722
  ensembl transcript: ENST00000548381
  gene symbol: WDR83
  hgvsc: ENST00000548381.1:c.-156-98G>A
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105583
  ensembl protein: ENSP00000468969
  ensembl transcript: ENST00000596731
  gene symbol: WDR83OS
  hgvsc: ENST00000596731.1:c.270C>T
  hgvsp: ENST00000596731.1:c.270C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30203
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105583
  ensembl protein: ENSP00000471797
  ensembl transcript: ENST00000598732
  gene symbol: WDR83OS
  hgvsc: ENST00000598732.1:c.*106C>T
  variant of: http://identifiers.org/hgnc/30203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl transcript: ENST00000546754
  gene symbol: WDR83
  hgvsc: ENST00000546754.1:n.192-98G>A
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl protein: ENSP00000450416
  ensembl transcript: ENST00000553179
  gene symbol: WDR83
  hgvsc: ENST00000553179.1:c.-156-98G>A
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl protein: ENSP00000402653
  ensembl transcript: ENST00000418543
  gene symbol: WDR83
  hgvsc: ENST00000418543.3:c.-156-98G>A
  variant of: http://identifiers.org/hgnc/32672
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5738
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3202
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31172
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4409
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10717
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1164
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala90Ala
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD

19-12779232-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12779232
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12779232
    reference: chr 19
allele count: 1
allele frequency: 9.068649678062936e-6
allele num: 110270
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl protein: ENSP00000402653
  ensembl transcript: ENST00000418543
  gene symbol: WDR83
  hgvsc: ENST00000418543.3:c.-156-90T>C
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl protein: ENSP00000450416
  ensembl transcript: ENST00000553179
  gene symbol: WDR83
  hgvsc: ENST00000553179.1:c.-156-90T>C
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105583
  ensembl protein: ENSP00000222190
  ensembl transcript: ENST00000222190
  gene symbol: WDR83OS
  hgvsc: ENST00000222190.5:c.256A>G
  hgvsp: ENSP00000222190.5:p.Ile86Val
  variant of: http://identifiers.org/hgnc/30203
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269590
  ensembl protein: ENSP00000472710
  ensembl transcript: ENST00000597961
  gene symbol: CTD-2192J16.24
  hgvsc: ENST00000597961.1:c.150+710A>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105583
  ensembl protein: ENSP00000471797
  ensembl transcript: ENST00000598732
  gene symbol: WDR83OS
  hgvsc: ENST00000598732.1:c.*98A>G
  variant of: http://identifiers.org/hgnc/30203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl transcript: ENST00000546754
  gene symbol: WDR83
  hgvsc: ENST00000546754.1:n.192-90T>C
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl protein: ENSP00000448722
  ensembl transcript: ENST00000548381
  gene symbol: WDR83
  hgvsc: ENST00000548381.1:c.-156-90T>C
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105583
  ensembl protein: ENSP00000468969
  ensembl transcript: ENST00000596731
  gene symbol: WDR83OS
  hgvsc: ENST00000596731.1:c.262A>G
  hgvsp: ENSP00000468969.1:p.Ile88Val
  variant of: http://identifiers.org/hgnc/30203
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29440
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4416
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10965
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2620
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5072
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5403
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7500
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1920
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1159
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1175
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ile88Val
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

19-12779234-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12779234
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12779234
    reference: chr 19
allele count: 1
allele frequency: 9.066676337788093e-6
allele num: 110294
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105583
  ensembl protein: ENSP00000471797
  ensembl transcript: ENST00000598732
  gene symbol: WDR83OS
  hgvsc: ENST00000598732.1:c.*96C>T
  variant of: http://identifiers.org/hgnc/30203
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl protein: ENSP00000402653
  ensembl transcript: ENST00000418543
  gene symbol: WDR83
  hgvsc: ENST00000418543.3:c.-156-88G>A
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl transcript: ENST00000546754
  gene symbol: WDR83
  hgvsc: ENST00000546754.1:n.192-88G>A
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105583
  ensembl protein: ENSP00000222190
  ensembl transcript: ENST00000222190
  gene symbol: WDR83OS
  hgvsc: ENST00000222190.5:c.254C>T
  hgvsp: ENSP00000222190.5:p.Ser85Phe
  variant of: http://identifiers.org/hgnc/30203
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl protein: ENSP00000450416
  ensembl transcript: ENST00000553179
  gene symbol: WDR83
  hgvsc: ENST00000553179.1:c.-156-88G>A
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl protein: ENSP00000448722
  ensembl transcript: ENST00000548381
  gene symbol: WDR83
  hgvsc: ENST00000548381.1:c.-156-88G>A
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269590
  ensembl protein: ENSP00000472710
  ensembl transcript: ENST00000597961
  gene symbol: CTD-2192J16.24
  hgvsc: ENST00000597961.1:c.150+708C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105583
  ensembl protein: ENSP00000468969
  ensembl transcript: ENST00000596731
  gene symbol: WDR83OS
  hgvsc: ENST00000596731.1:c.260C>T
  hgvsp: ENSP00000468969.1:p.Ser87Phe
  variant of: http://identifiers.org/hgnc/30203
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5481
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5235
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2664
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5336
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11097
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28084
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7545
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2570
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser87Phe
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP
site quality: ClippingRankSum

19-12779244-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12779244
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12779244
    reference: chr 19
allele count: 2
allele frequency: 1.801996612246369e-5
allele num: 110988
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105583
  ensembl protein: ENSP00000222190
  ensembl transcript: ENST00000222190
  gene symbol: WDR83OS
  hgvsc: ENST00000222190.5:c.249-5C>G
  variant of: http://identifiers.org/hgnc/30203
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl protein: ENSP00000450416
  ensembl transcript: ENST00000553179
  gene symbol: WDR83
  hgvsc: ENST00000553179.1:c.-156-78G>C
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl protein: ENSP00000402653
  ensembl transcript: ENST00000418543
  gene symbol: WDR83
  hgvsc: ENST00000418543.3:c.-156-78G>C
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105583
  ensembl protein: ENSP00000468969
  ensembl transcript: ENST00000596731
  gene symbol: WDR83OS
  hgvsc: ENST00000596731.1:c.255-5C>G
  variant of: http://identifiers.org/hgnc/30203
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269590
  ensembl protein: ENSP00000472710
  ensembl transcript: ENST00000597961
  gene symbol: CTD-2192J16.24
  hgvsc: ENST00000597961.1:c.150+698C>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105583
  ensembl protein: ENSP00000471797
  ensembl transcript: ENST00000598732
  gene symbol: WDR83OS
  hgvsc: ENST00000598732.1:c.*86C>G
  variant of: http://identifiers.org/hgnc/30203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl transcript: ENST00000546754
  gene symbol: WDR83
  hgvsc: ENST00000546754.1:n.192-78G>C
  variant of: http://identifiers.org/hgnc/32672
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123154
  ensembl protein: ENSP00000448722
  ensembl transcript: ENST00000548381
  gene symbol: WDR83
  hgvsc: ENST00000548381.1:c.-156-78G>C
  variant of: http://identifiers.org/hgnc/32672
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5928
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4994
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27687
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10790
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5958
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2852
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7477
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1407
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1850
  bin: 9.75e1
  variant carriers: 1
hgvs: c.255-5C>G
num of homozygotes: 0
reference allele: G

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

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

GenotypeQuality
all individuals: 237
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43779
bin: 6.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 1349
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7189
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6236
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.994125756758376e-5
allele num: 66732
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 2.063929e6

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.8e-1

QD
type: SiteQuality
SIO_000300: 1.222e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e-1

FS
type: SiteQuality
SIO_000300: 5.26e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.69e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

GenotypeQuality
all individuals: 180
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 43801
bin: 6.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 1347
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1185
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 9.25e1
variant carriers: 0

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

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 7.11e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.48e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.04e0

DP
type: SiteQuality
SIO_000300: 2.063448e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.283e1

MQRankSum
type: SiteQuality
SIO_000300: 5.21e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.620000000000001e-1

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

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

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

GenotypeQuality
all individuals: 6239
bin: 9.75e1
variant carriers: 16

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

GenotypeQuality
all individuals: 180
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7183
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.498576352465158e-4
allele num: 66730
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 6
allele frequency: 9.101941747572816e-4
allele num: 6592
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.94e1

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.13e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.0638e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.6e-2

QD
type: SiteQuality
SIO_000300: 1.188e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.07e-1

GenotypeQuality
all individuals: 57
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1346
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6223
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7179
bin: 6.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.223e0

VQSLOD
type: SiteQuality
SIO_000300: -7.28e-2

MQ
type: SiteQuality
SIO_000300: 5.98e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.062741e6

MQRankSum
type: SiteQuality
SIO_000300: -9.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.39e0

QD
type: SiteQuality
SIO_000300: 9.609999999999999e0

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

GenotypeQuality
all individuals: 29
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43731
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7172
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1177
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1346
bin: 7.25e1
variant carriers: 0

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

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.387e0

VQSLOD
type: SiteQuality
SIO_000300: 1.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.24e-1

DP
type: SiteQuality
SIO_000300: 2.062699e6

QD
type: SiteQuality
SIO_000300: 9.83e0

MQ
type: SiteQuality
SIO_000300: 5.936e1

FS
type: SiteQuality
SIO_000300: 4.154e0

GenotypeQuality
all individuals: 43709
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1334
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 7151
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 177
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6224
bin: 9.75e1
variant carriers: 2

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49934029027228e-5
allele num: 66696
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06501698204755e-5
allele num: 16488
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.5e-2

MQ
type: SiteQuality
SIO_000300: 5.983e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.78e0

DP
type: SiteQuality
SIO_000300: 2.061521e6

FS
type: SiteQuality
SIO_000300: 2.128e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.043e0

QD
type: SiteQuality
SIO_000300: 1.284e1

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

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

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

GenotypeQuality
all individuals: 14
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 164
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 474
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 43672
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.632055480639569e-5
allele num: 10382
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66672
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -9.2e-1

DP
type: SiteQuality
SIO_000300: 2.060717e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.74e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.58e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.982e1

FS
type: SiteQuality
SIO_000300: 1.951e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.189e0

QD
type: SiteQuality
SIO_000300: 1.215e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.4e-1

GenotypeQuality
all individuals: 140
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6765
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1026
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 214
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 4
allele frequency: 3.534817956875221e-4
allele num: 11316
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66000
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16300
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10202
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6416
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.263e0

DP
type: SiteQuality
SIO_000300: 2.025712e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 8.36e-1

QD
type: SiteQuality
SIO_000300: 1.072e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.85e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.83e-1

GenotypeQuality
all individuals: 168
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2994
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 906
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40885
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1070
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.52592547379986e-5
allele num: 65534
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11140
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6342
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10102
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16174
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.129e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

DP
type: SiteQuality
SIO_000300: 1.999207e6

VQSLOD
type: SiteQuality
SIO_000300: -6.519999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.244e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.159e0

MQRankSum
type: SiteQuality
SIO_000300: -9.85e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.390000000000001e0

GenotypeQuality
all individuals: 109
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6176
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 110
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5792
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 916
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38509
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8344
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9942
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15986
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10790
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.100390649221802e-5
allele num: 64508
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.027e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.549e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.91e0

DP
type: SiteQuality
SIO_000300: 1.948229e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.38e-1

GenotypeQuality
all individuals: 877
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6174
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 16
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5635
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37283
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 726
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64042
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9854
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6156
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8274
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.286145335680161e-5
allele num: 15908
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10642
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.022e0

VQSLOD
type: SiteQuality
SIO_000300: 2.68e-1

QD
type: SiteQuality
SIO_000300: 1.111e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.9e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.48e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.08e-1

DP
type: SiteQuality
SIO_000300: 1.926787e6

GenotypeQuality
all individuals: 26263
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2312
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 540
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 585
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 920
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 599
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3882
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7732
num of homozygotes: 0

South Asian
type: Population
allele count: 10
allele frequency: 6.495193556767992e-4
allele num: 15396
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9522
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60202
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9288
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5746
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

DP
type: SiteQuality
SIO_000300: 1.714106e6

QD
type: SiteQuality
SIO_000300: 1.331e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.48e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.32e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.2e-2

GenotypeQuality
all individuals: 3431
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19818
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3286
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1444
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6158
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9060
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15212
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9042
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.34517083669626e-4
allele num: 7434
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58034
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.49e0

VQSLOD
type: SiteQuality
SIO_000300: 2.06e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.24e0

QD
type: SiteQuality
SIO_000300: 1.479e1

MQRankSum
type: SiteQuality
SIO_000300: 2.49e-1

DP
type: SiteQuality
SIO_000300: 1.583153e6

GenotypeQuality
all individuals: 2253
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4992
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4517
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6156
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 171
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13209
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1884
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55842
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.167133520074697e-4
allele num: 8568
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5380
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7128
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14910
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.65e-1

QD
type: SiteQuality
SIO_000300: 1.076e1

MQRankSum
type: SiteQuality
SIO_000300: 5.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-3

DP
type: SiteQuality
SIO_000300: 1.440109e6

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.013e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 544
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6157
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 9912
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 24121
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 479
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.673769287288758e-5
allele num: 54440
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6892
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14728
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5250
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8222
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.375743e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.81e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 7.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.76e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.6e-2

QD
type: SiteQuality
SIO_000300: 1.088e1

GenotypeQuality
all individuals: 1017
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 24272
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2987
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 733
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6155
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8712
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6248
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5196
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.850253459377997e-5
allele num: 14598
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8490
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6754
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53526
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8024
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.21e-1

QD
type: SiteQuality
SIO_000300: 1.169e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.3e-3

DP
type: SiteQuality
SIO_000300: 1.342706e6

MQRankSum
type: SiteQuality
SIO_000300: -5.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.47e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.21e-1

GenotypeQuality
all individuals: 679
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5271
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1949
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 586
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 745
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 910
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7823
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3216
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8382
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6662
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.377031120903333e-4
allele num: 14524
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52994
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5108
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7838
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.17e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.415e0

MQRankSum
type: SiteQuality
SIO_000300: 2.6e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.33e0

DP
type: SiteQuality
SIO_000300: 1.319467e6

GenotypeQuality
all individuals: 3475
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1218
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1803
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5550
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 931
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4054
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 607
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 7.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6072
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6794
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 690
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4690
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7740
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13954
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.111334950458414e-5
allele num: 48646
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.11e-1

FS
type: SiteQuality
SIO_000300: 3.768e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.699999999999999e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.34e-1

DP
type: SiteQuality
SIO_000300: 1.242438e6

MQRankSum
type: SiteQuality
SIO_000300: -3.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.22e-1

QD
type: SiteQuality
SIO_000300: 9.93e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.42e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2305
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1186
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20696
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7360
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2308
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3162
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6152
bin: 9.75e1
variant carriers: 4

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4580
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.895193977996526e-4
allele num: 13816
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7546
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6442
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 680
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47130
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5892
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.9e-1

QD
type: SiteQuality
SIO_000300: 1.267e1

DP
type: SiteQuality
SIO_000300: 1.223627e6

MQRankSum
type: SiteQuality
SIO_000300: 2.41e-1

FS
type: SiteQuality
SIO_000300: 6.42e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.637e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.61e-1

MQ
type: SiteQuality
SIO_000300: 5.907e1

VQSLOD
type: SiteQuality
SIO_000300: -2.886e-1

GenotypeQuality
all individuals: 4164
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1286
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4446
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6585
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15009
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 5.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 6149
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 448
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7356
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1853
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13310
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42858
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4184
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5282
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5512
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 628
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6978
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.52e0

MQRankSum
type: SiteQuality
SIO_000300: -9.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.56e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.17e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.56e-1

DP
type: SiteQuality
SIO_000300: 1.200127e6

QD
type: SiteQuality
SIO_000300: 1.31e1

GenotypeQuality
all individuals: 70
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4053
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2483
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12480
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7163
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8700
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1864
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.254390366281987e-4
allele num: 7972
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1228
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 182
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

DP
type: SiteQuality
SIO_000300: 4.89086e5

BaseQRankSum
type: SiteQuality
SIO_000300: -4.162e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-2

QD
type: SiteQuality
SIO_000300: 1.652e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 5.95e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.24e0

GenotypeQuality
all individuals: 347
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1115
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19649
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1238
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5008
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3656
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4267
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8842
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1868
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.25e-4
allele num: 8000
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 570
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1294
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.379e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.195e0

DP
type: SiteQuality
SIO_000300: 5.11208e5

MQRankSum
type: SiteQuality
SIO_000300: -3.62e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.522e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.52e-1

QD
type: SiteQuality
SIO_000300: 1.041e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.04e-2

GenotypeQuality
all individuals: 3620
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1112
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1169
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20542
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 841
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 450
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 68
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4605
bin: 1.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1876
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1316
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.741581441756049e-4
allele num: 8018
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8904
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -9.18e-1

QD
type: SiteQuality
SIO_000300: 8.390000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: -3.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.94e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.2714e1

VQSLOD
type: SiteQuality
SIO_000300: -1.519e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.54e0

DP
type: SiteQuality
SIO_000300: 5.15149e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

GenotypeQuality
all individuals: 1253
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2018
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1086
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 745
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4797
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 38
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 448
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 1
allele frequency: 4.9800796812749e-4
allele num: 2008
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 720
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 252
num of homozygotes: 0

Other
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: 1514
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9744
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8180
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.62e-1

FS
type: SiteQuality
SIO_000300: 2.617e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.606e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.25e-2

QD
type: SiteQuality
SIO_000300: 6.85e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.92e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.421e-1

DP
type: SiteQuality
SIO_000300: 5.58555e5

GenotypeQuality
all individuals: 754
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1918
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 662
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1086
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 448
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4841
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29612
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1255
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 738
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1554
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9880
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 256
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2032
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.17e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.38e0

QD
type: SiteQuality
SIO_000300: 2.072e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.38e0

VQSLOD
type: SiteQuality
SIO_000300: -2.253e0

DP
type: SiteQuality
SIO_000300: 5.60376e5

GenotypeQuality
all individuals: 60
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2111
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 657
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1078
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 743
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1255
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1598
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10030
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 208
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 254
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 752
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.775e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.14e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.495e0

MQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.796e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.22e-1

DP
type: SiteQuality
SIO_000300: 5.64011e5

GenotypeQuality
all individuals: 237
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5065
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30953
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 727
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 448
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 14359
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1264
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 210
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 6.016847172081829e-4
allele num: 1662
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8294
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2084
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 274
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.925e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.05e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e0

DP
type: SiteQuality
SIO_000300: 5.71587e5

VQSLOD
type: SiteQuality
SIO_000300: -8.265e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.84e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.31e-1

QD
type: SiteQuality
SIO_000300: 1.085e1

GenotypeQuality
all individuals: 1003
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31933
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1331
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1279
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 448
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12606
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1138
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2224
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2094
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 230
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 358
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.22e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.42e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-2

QD
type: SiteQuality
SIO_000300: 1.546e1

DP
type: SiteQuality
SIO_000300: 5.97623e5

GenotypeQuality
all individuals: 438
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31598
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 989
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 918
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 449
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1280
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1416
bin: 1.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8664
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.576329331046312e-4
allele num: 1166
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2206
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12658
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 230
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 362
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.44e-1

QD
type: SiteQuality
SIO_000300: 7.61e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.46e0

VQSLOD
type: SiteQuality
SIO_000300: -1.065e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.64e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.75e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.98184e5

GenotypeQuality
all individuals: 31110
bin: 2.25e1
variant carriers: 2

GenotypeQuality
all individuals: 578
bin: 3.25e1
variant carriers: 4

GenotypeQuality
all individuals: 5568
bin: 6.25e1
variant carriers: 3

GenotypeQuality
all individuals: 171
bin: 5.25e1
variant carriers: 9

GenotypeQuality
all individuals: 2412
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1280
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 9.75e1
variant carriers: 72

GenotypeQuality
all individuals: 29
bin: 5.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1272
bin: 6.75e1
variant carriers: 3

GenotypeQuality
all individuals: 113
bin: 8.75e1
variant carriers: 5

GenotypeQuality
all individuals: 348
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 180
bin: 9.25e1
variant carriers: 4

GenotypeQuality
all individuals: 445
bin: 7.75e1
variant carriers: 5

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 376
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.666360012266176e-5
allele num: 13044
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1278
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 6.880733944954129e-4
allele num: 8720
num of homozygotes: 0

East Asian
type: Population
allele count: 80
allele frequency: 3.568242640499554e-2
allele num: 2242
num of homozygotes: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2230
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 236
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.77e-2

DP
type: SiteQuality
SIO_000300: 6.01394e5

MQRankSum
type: SiteQuality
SIO_000300: 6.5e-2

QD
type: SiteQuality
SIO_000300: 1.132e1

VQSLOD
type: SiteQuality
SIO_000300: 3.43e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 5.18e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 155
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 898
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 534
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 753
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5617
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1284
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33547
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 244
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1364
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2464
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.13947128532361e-4
allele num: 8776
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 546
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.990074094785405e-5
allele num: 14306
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2320
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.61e0

DP
type: SiteQuality
SIO_000300: 6.1056e5

MQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.82e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.829e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.79e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.78e-1

FS
type: SiteQuality
SIO_000300: 1.507e0

GenotypeQuality
all individuals: 3459
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10003
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 29896
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2696
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 425
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 120
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 170
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1284
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 432
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7856
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7002
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.11358574610245e-3
allele num: 898
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.25e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.478e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.186e0

QD
type: SiteQuality
SIO_000300: 9.85e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.49e-2

DP
type: SiteQuality
SIO_000300: 4.37809e5

MQRankSum
type: SiteQuality
SIO_000300: -3.87e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

GenotypeQuality
all individuals: 15
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1989
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8453
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 32576
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 414
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1150
bin: 6.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1130
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 164
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7752
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5904
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.18e-2

DP
type: SiteQuality
SIO_000300: 4.01015e5

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.192e1

VQSLOD
type: SiteQuality
SIO_000300: 3.5e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2509
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 32925
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1143
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8263
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2084
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 415
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.58732212160414e-4
allele num: 7730
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 316
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1100
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5796
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 162
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 606
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.240000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.465e0

FS
type: SiteQuality
SIO_000300: 2.018e0

MQRankSum
type: SiteQuality
SIO_000300: 6.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.63e0

VQSLOD
type: SiteQuality
SIO_000300: -2.092e0

DP
type: SiteQuality
SIO_000300: 3.95429e5

QD
type: SiteQuality
SIO_000300: 1.179e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.98e-1

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8355
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1987
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32947
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1140
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3767
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 104
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 596
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1092
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 162
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.727115716753022e-4
allele num: 5790
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 316
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7728
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.754e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.28e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.731e0

DP
type: SiteQuality
SIO_000300: 3.95382e5

FS
type: SiteQuality
SIO_000300: 1.04e0

QD
type: SiteQuality
SIO_000300: 1.793e1

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

GenotypeQuality
all individuals: 2817
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1973
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 31
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 432
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33018
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7864
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 7.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 554
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7704
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 302
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5588
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.216e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.42e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.42e-1

QD
type: SiteQuality
SIO_000300: 1.798e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.88851e5

ClippingRankSum
type: SiteQuality
SIO_000300: 7.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.47e-2

GenotypeQuality
all individuals: 1499
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1098
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33474
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 1628
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3599
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 272
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5440
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7708
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 984
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 524
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

QD
type: SiteQuality
SIO_000300: 7.67e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.83037e5

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.45e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.19e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 36
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1484
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2602
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1098
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33372
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1631
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7704
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 276
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 962
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 526
num of homozygotes: 0

Other
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: 5394
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.331e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.38e0

VQSLOD
type: SiteQuality
SIO_000300: -2.481e0

MQRankSum
type: SiteQuality
SIO_000300: -1.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.530000000000001e-2

DP
type: SiteQuality
SIO_000300: 3.81981e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1456
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1914
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 412
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3546
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 480
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 266
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7684
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5248
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 912
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.65e-2

DP
type: SiteQuality
SIO_000300: 3.76417e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.604e1

VQSLOD
type: SiteQuality
SIO_000300: 9.26e-1

QD
type: SiteQuality
SIO_000300: 1.955e1

GenotypeQuality
all individuals: 34130
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2454
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1084
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3562
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1464
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 433
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5070
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7658
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 434
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.118568232662192e-3
allele num: 894
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.323e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.76e-2

DP
type: SiteQuality
SIO_000300: 3.7064e5

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.25e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.31e0

GenotypeQuality
all individuals: 34558
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2055
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1008
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7526
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1139
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 303
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3548
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1078
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7658
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.030044660982542e-4
allele num: 4926
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 246
num of homozygotes: 0

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

Other
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: 872
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.004e0

DP
type: SiteQuality
SIO_000300: 3.66736e5

MQ
type: SiteQuality
SIO_000300: 5.963e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.388e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.68e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.842e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.75e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.47e-1

GenotypeQuality
all individuals: 303
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 966
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7435
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34674
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4858
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.613695765812859e-4
allele num: 7652
num of homozygotes: 1

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

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

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: 248
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 376
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.729999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.21e-1

QD
type: SiteQuality
SIO_000300: 2.898e1

MQ
type: SiteQuality
SIO_000300: 5.93e1

DP
type: SiteQuality
SIO_000300: 3.64709e5

GenotypeQuality
all individuals: 23
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 431
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6237
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2646
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 54
bin: 3.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 171
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 941
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 8.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 8.333333333333333e-3
allele num: 240
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7644
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 356
num of homozygotes: 0

Other
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: 828
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4686
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.438e1

MQRankSum
type: SiteQuality
SIO_000300: -5.29e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.685e0

DP
type: SiteQuality
SIO_000300: 3.58034e5

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.98e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

GenotypeQuality
all individuals: 754
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34871
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 103
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 595
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 170
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1069
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 434
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 389
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 9.345794392523364e-3
allele num: 214
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.524886877828054e-4
allele num: 4420
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 306
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.311991603253739e-4
allele num: 7622
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 774
num of homozygotes: 0

European (Finnish)
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: 146
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

QD
type: SiteQuality
SIO_000300: 1.338e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.19e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.791e0

VQSLOD
type: SiteQuality
SIO_000300: 1.18e0

DP
type: SiteQuality
SIO_000300: 3.40526e5

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

GenotypeQuality
all individuals: 1042
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 464
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 648
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33771
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3363
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3751
bin: 2.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 272
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4218
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7582
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 140
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.599999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.496e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.884e0

MQRankSum
type: SiteQuality
SIO_000300: -1.495e0

DP
type: SiteQuality
SIO_000300: 3.19342e5

ClippingRankSum
type: SiteQuality
SIO_000300: 9.22e-1

GenotypeQuality
all individuals: 30
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25256
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 426
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 100
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 952
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 7.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 170
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.341201716738197e-4
allele num: 7456
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 570
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3720
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.184e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.387e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e0

VQSLOD
type: SiteQuality
SIO_000300: -2.716e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.89e-1

DP
type: SiteQuality
SIO_000300: 2.66619e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.11e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.17e-1

GenotypeQuality
all individuals: 108
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4859
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2662
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 530
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 158
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7436
num of homozygotes: 0

Other
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: 0.0e0
allele num: 4
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3618
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.29e0

VQSLOD
type: SiteQuality
SIO_000300: -2.064e0

DP
type: SiteQuality
SIO_000300: 2.57659e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.19e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.231e0

GenotypeQuality
all individuals: 259
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1246
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 930
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22485
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 364
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2651
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 530
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 208
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.345895020188425e-4
allele num: 7430
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3602
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.237e0

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.446e0

VQSLOD
type: SiteQuality
SIO_000300: -3.078e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.28e0

QD
type: SiteQuality
SIO_000300: 6.97e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.21e-2

DP
type: SiteQuality
SIO_000300: 2.55707e5

MQ
type: SiteQuality
SIO_000300: 5.949e1

GenotypeQuality
all individuals: 232
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 769
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5759
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17173
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6179
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 597
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 494
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5943
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4556
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 754
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1300
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3808
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 424
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2762
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4842
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1940
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6292
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.7135569304244e-5
allele num: 36852
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.29e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.06e0

VQSLOD
type: SiteQuality
SIO_000300: -4.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

DP
type: SiteQuality
SIO_000300: 8.27488e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.869e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.474e0

QD
type: SiteQuality
SIO_000300: 1.539e1

GenotypeQuality
all individuals: 2848
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6681
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4556
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 687
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5760
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 573
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3194
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1545
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 765
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 608
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6328
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37126
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4858
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 432
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1968
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.1726288754357e-5
allele num: 10902
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2782
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.56e-1

FS
type: SiteQuality
SIO_000300: 7.104e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.22e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.066e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.022e0

DP
type: SiteQuality
SIO_000300: 8.30515e5

VQSLOD
type: SiteQuality
SIO_000300: -2.93e-1

QD
type: SiteQuality
SIO_000300: 1.286e1

GenotypeQuality
all individuals: 19297
bin: 2.25e1
variant carriers: 5

GenotypeQuality
all individuals: 1657
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 264
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 4475
bin: 7.5e0
variant carriers: 2

GenotypeQuality
all individuals: 5584
bin: 3.25e1
variant carriers: 5

GenotypeQuality
all individuals: 4444
bin: 2.75e1
variant carriers: 5

GenotypeQuality
all individuals: 241
bin: 5.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1126
bin: 4.25e1
variant carriers: 3

GenotypeQuality
all individuals: 8548
bin: 6.25e1
variant carriers: 7

GenotypeQuality
all individuals: 458
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1260
bin: 9.75e1
variant carriers: 33

GenotypeQuality
all individuals: 404
bin: 5.25e1
variant carriers: 5

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2862
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 27
allele frequency: 7.497084467151663e-4
allele num: 36014
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.04582651391162e-4
allele num: 4888
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 402
num of homozygotes: 0

African
type: Population
allele count: 40
allele frequency: 7.010164738871364e-3
allele num: 5706
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10998
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 4
allele frequency: 2.136752136752137e-3
allele num: 1872
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.942e1

FS
type: SiteQuality
SIO_000300: 4.3962e1

VQSLOD
type: SiteQuality
SIO_000300: -1.034e1

QD
type: SiteQuality
SIO_000300: 1.78e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-2

DP
type: SiteQuality
SIO_000300: 8.41048e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.77e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.396e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.71e0

GenotypeQuality
all individuals: 283
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 814
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4478
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1822
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 670
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20373
bin: 2.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1042
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 455
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2057
bin: 1.25e1
variant carriers: 3

GenotypeQuality
all individuals: 9530
bin: 6.25e1
variant carriers: 3

GenotypeQuality
all individuals: 300
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 858
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 1.0674067353365e-4
allele num: 37474
num of homozygotes: 0

African
type: Population
allele count: 11
allele frequency: 1.747141041931385e-3
allele num: 6296
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4936
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2910
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11010
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 426
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1988
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.14e-2

FS
type: SiteQuality
SIO_000300: 2.0198e1

MQRankSum
type: SiteQuality
SIO_000300: -3.54e-1

DP
type: SiteQuality
SIO_000300: 8.47087e5

MQ
type: SiteQuality
SIO_000300: 5.906e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.975e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.41e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.506e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.26e0

QD
type: SiteQuality
SIO_000300: 4.43e0

GenotypeQuality
all individuals: 4514
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 966
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 640
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21329
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1480
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 776
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1469
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11104
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6484
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2192
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38672
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 3.160556257901391e-4
allele num: 3164
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11164
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5048
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.396e0

FS
type: SiteQuality
SIO_000300: 6.929e0

DP
type: SiteQuality
SIO_000300: 8.70793e5

VQSLOD
type: SiteQuality
SIO_000300: -3.257e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.52e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.18e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.93e0

QD
type: SiteQuality
SIO_000300: 2.945e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 724
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 784
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2165
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1351
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5112
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11762
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 621
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21656
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1471
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4464
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2591
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6488
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2200
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38880
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5092
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11214
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 3.123048094940662e-4
allele num: 3202
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 444
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

VQSLOD
type: SiteQuality
SIO_000300: -1.028e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.054e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

MQ
type: SiteQuality
SIO_000300: 5.863e1

DP
type: SiteQuality
SIO_000300: 8.77821e5

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.201e1

GenotypeQuality
all individuals: 609
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1959
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4886
bin: 3.25e1
variant carriers: 2

GenotypeQuality
all individuals: 779
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1643
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 273
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11206
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1406
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 906
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 730
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2570
bin: 3.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 1
allele frequency: 4.930966469428008e-4
allele num: 2028
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 1.101321585903084e-3
allele num: 6356
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 438
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 7.846419417272584e-5
allele num: 38234
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11188
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.985702938840349e-4
allele num: 5036
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3158
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.0352e2

QD
type: SiteQuality
SIO_000300: 1.3e0

MQRankSum
type: SiteQuality
SIO_000300: 1.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.591e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.24e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

DP
type: SiteQuality
SIO_000300: 8.8616e5

MQ
type: SiteQuality
SIO_000300: 5.931e1

VQSLOD
type: SiteQuality
SIO_000300: -4.927e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

GenotypeQuality
all individuals: 19017
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2661
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1420
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 499
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3369
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 707
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1574
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1117
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6972
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5666
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.514986376021798e-5
allele num: 11744
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 504
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4172
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.290635880520433e-5
allele num: 43656
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2800
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.4e1

DP
type: SiteQuality
SIO_000300: 1.001083e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.877e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.46e-1

FS
type: SiteQuality
SIO_000300: 6.842e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

GenotypeQuality
all individuals: 3196
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1215
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 929
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 721
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 461
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2770
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1147
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1582
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 317
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44734
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5814
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 6.756756756756757e-4
allele num: 4440
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2942
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11888
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 514
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7092
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.846e0

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.054e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

QD
type: SiteQuality
SIO_000300: 9.51e0

FS
type: SiteQuality
SIO_000300: 1.3956e1

DP
type: SiteQuality
SIO_000300: 1.021919e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.11e-1

GenotypeQuality
all individuals: 2881
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1586
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2657
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1127
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 551
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1165
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 742
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22331
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4672
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5994
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3108
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 534
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7252
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.16797467805576e-5
allele num: 46126
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12028
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.52e-1

DP
type: SiteQuality
SIO_000300: 1.048979e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.317e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.3e-2

QD
type: SiteQuality
SIO_000300: 1.692e1

FS
type: SiteQuality
SIO_000300: 1.588e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.8e-1

GenotypeQuality
all individuals: 441
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3145
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 448
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2198
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17193
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27555
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 776
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6398
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7690
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3622
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5682
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 586
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.991476480662764e-5
allele num: 50214
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12506
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.123965e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.435e0

MQRankSum
type: SiteQuality
SIO_000300: 5.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

FS
type: SiteQuality
SIO_000300: 1.8343e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.29e-1

QD
type: SiteQuality
SIO_000300: 1.942e1

VQSLOD
type: SiteQuality
SIO_000300: -1.466e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 930
bin: 7.25e1
variant carriers: 38

GenotypeQuality
all individuals: 1084
bin: 7.75e1
variant carriers: 61

GenotypeQuality
all individuals: 855
bin: 3.75e1
variant carriers: 64

GenotypeQuality
all individuals: 535
bin: 5.25e1
variant carriers: 59

GenotypeQuality
all individuals: 329
bin: 8.75e1
variant carriers: 43

GenotypeQuality
all individuals: 363
bin: 4.25e1
variant carriers: 51

GenotypeQuality
all individuals: 228
bin: 1.75e1
variant carriers: 28

GenotypeQuality
all individuals: 15566
bin: 2.25e1
variant carriers: 49

GenotypeQuality
all individuals: 495
bin: 5.75e1
variant carriers: 43

GenotypeQuality
all individuals: 2058
bin: 2.75e1
variant carriers: 29

GenotypeQuality
all individuals: 134
bin: 1.25e1
variant carriers: 15

GenotypeQuality
all individuals: 379
bin: 9.25e1
variant carriers: 50

African
type: Population
allele count: 4428
allele frequency: 4.857393593681439e-1
allele num: 9116
num of homozygotes: 1022

Latino
type: Population
allele count: 290
allele frequency: 4.796559708898445e-2
allele num: 6046
num of homozygotes: 5

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3680
num of homozygotes: 0

South Asian
type: Population
allele count: 61
allele frequency: 4.843576306177545e-3
allele num: 12594
num of homozygotes: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6424
num of homozygotes: 0

Other
type: Population
allele count: 26
allele frequency: 4.29042904290429e-2
allele num: 606
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 839
allele frequency: 1.642714492696871e-2
allele num: 51074
num of homozygotes: 5

QD
type: SiteQuality
SIO_000300: 1.807e1

VQSLOD
type: SiteQuality
SIO_000300: 1.384e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.004e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.76e-1

FS
type: SiteQuality
SIO_000300: 5.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.48e-1

DP
type: SiteQuality
SIO_000300: 1.201569e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.395e0

MQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 433
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1882
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1070
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 661
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 933
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13542
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 738
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3534
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1227
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1853
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 650
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4150
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9288
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54022
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6976
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.679311933650745e-5
allele num: 13022
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6806
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.352e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.85e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.217278e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.072e0

FS
type: SiteQuality
SIO_000300: 5.793e0

MQRankSum
type: SiteQuality
SIO_000300: 1.46e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.49e-1

GenotypeQuality
all individuals: 409
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1564
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1686
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11680
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1125
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 881
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 741
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1851
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 32569
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 879
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13382
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4496
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7050
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7618
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.332954101041704e-5
allele num: 56254
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9376
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 682
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e-1

QD
type: SiteQuality
SIO_000300: 5.56e0

VQSLOD
type: SiteQuality
SIO_000300: -8.026e-1

FS
type: SiteQuality
SIO_000300: 8.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.88e-1

MQ
type: SiteQuality
SIO_000300: 5.907e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.45e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.28e-1

DP
type: SiteQuality
SIO_000300: 1.255167e6

GenotypeQuality
all individuals: 874
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3696
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 740
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32845
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 639
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1851
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 113
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1676
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 848
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 526
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1538
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9380
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13462
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7730
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7114
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.765287388786895e-5
allele num: 56648
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.36e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.38e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

QD
type: SiteQuality
SIO_000300: 9.18e0

DP
type: SiteQuality
SIO_000300: 1.26416e6

MQRankSum
type: SiteQuality
SIO_000300: -2.75e-1

FS
type: SiteQuality
SIO_000300: 1.528e0

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.02e-1

GenotypeQuality
all individuals: 1853
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 343
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 731
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 767
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10199
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3801
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 799
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1143
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4864
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9464
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13724
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.722534192303717e-5
allele num: 58054
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8204
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7342
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

MQ
type: SiteQuality
SIO_000300: 5.936e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.513e0

FS
type: SiteQuality
SIO_000300: 8.427e0

DP
type: SiteQuality
SIO_000300: 1.287682e6

MQRankSum
type: SiteQuality
SIO_000300: -3.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.67e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.151e-1

QD
type: SiteQuality
SIO_000300: 9.57e0

GenotypeQuality
all individuals: 112
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 774
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1285
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9304
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1294
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3874
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1169
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35962
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1853
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5036
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7454
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9510
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 742
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8526
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13916
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.691990118777706e-5
allele num: 59102
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 3.37e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.48e-1

DP
type: SiteQuality
SIO_000300: 1.307966e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 8.84e-1

MQ
type: SiteQuality
SIO_000300: 5.884e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.855e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.502e0

GenotypeQuality
all individuals: 826
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1287
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37007
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 602
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3994
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 778
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1851
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1178
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5360
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.959910913140311e-5
allele num: 14368
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 782
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9592
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7768
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9136
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60764
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.16e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

DP
type: SiteQuality
SIO_000300: 1.337567e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.91e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.04e0

QD
type: SiteQuality
SIO_000300: 1.031e1

GenotypeQuality
all individuals: 35931
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 533
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1790
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1258
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1211
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4046
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 889
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 836
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.270648030495553e-4
allele num: 7870
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5496
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.252244048393391e-5
allele num: 61496
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9426
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14630
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.94e-1

FS
type: SiteQuality
SIO_000300: 2.481e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.53e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.81e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.13e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.071e1

DP
type: SiteQuality
SIO_000300: 1.3455e6

GenotypeQuality
all individuals: 721
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4044
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1851
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 7430
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1636
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 893
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 938
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35375
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 589
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1875
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1264
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14658
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9452
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.246753246753247e-5
allele num: 61600
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7880
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9660
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

FS
type: SiteQuality
SIO_000300: 2.325e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.83e0

QD
type: SiteQuality
SIO_000300: 9.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.6e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.344921e6

VQSLOD
type: SiteQuality
SIO_000300: 3.09e-1

GenotypeQuality
all individuals: 108
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2257
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33681
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 766
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1851
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 400
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1728
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3985
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1237
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1146
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14762
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61932
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9598
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5566
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.26008064516129e-4
allele num: 7936
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9676
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.338798e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

MQ
type: SiteQuality
SIO_000300: 5.281e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 9.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.6e-2

QD
type: SiteQuality
SIO_000300: 1.229e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.94e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.131e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.54e-1

GenotypeQuality
all individuals: 30326
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1214
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3730
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2092
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1493
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2082
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2157
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1718
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 716
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1851
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1098
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9670
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.259763164525069e-4
allele num: 7938
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61928
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9604
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14786
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5564
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.6e0

FS
type: SiteQuality
SIO_000300: 2.188e0

MQRankSum
type: SiteQuality
SIO_000300: 1.52e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.74e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.18e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

MQ
type: SiteQuality
SIO_000300: 5.922e1

QD
type: SiteQuality
SIO_000300: 1.165e1

DP
type: SiteQuality
SIO_000300: 1.33373e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.72e-1

GenotypeQuality
all individuals: 149
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1579
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 711
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2264
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1190
bin: 7.75e1
variant carriers: 0