22-44392247-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44392247
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44392247
    reference: chr 22
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100347
  ensembl protein: ENSP00000345445
  ensembl transcript: ENST00000350028
  gene symbol: SAMM50
  hgvsc: ENST00000350028.4:c.1394G>T
  hgvsp: ENSP00000345445.4:p.Gly465Val
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000474323
  gene symbol: SAMM50
  hgvsc: ENST00000474323.1:n.2206G>T
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000494795
  gene symbol: SAMM50
  hgvsc: ENST00000494795.1:n.3086G>T
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000493621
  gene symbol: SAMM50
  hgvsc: ENST00000493621.1:n.274G>T
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100347
  ensembl protein: ENSP00000379505
  ensembl transcript: ENST00000396202
  gene symbol: SAMM50
  hgvsc: ENST00000396202.3:c.764G>T
  hgvsp: ENSP00000379505.3:p.Gly255Val
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+5961G>T
  variant of: http://identifiers.org/hgnc/24276
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47496
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55822
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly465Val
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/22-44392249-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44392249
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44392249
    reference: chr 22
allele count: 2
allele frequency: 1.647419317638919e-5
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+5963A>C
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100347
  ensembl protein: ENSP00000379505
  ensembl transcript: ENST00000396202
  gene symbol: SAMM50
  hgvsc: ENST00000396202.3:c.766A>C
  hgvsp: ENSP00000379505.3:p.Ile256Leu
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100347
  ensembl protein: ENSP00000345445
  ensembl transcript: ENST00000350028
  gene symbol: SAMM50
  hgvsc: ENST00000350028.4:c.1396A>C
  hgvsp: ENSP00000345445.4:p.Ile466Leu
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000474323
  gene symbol: SAMM50
  hgvsc: ENST00000474323.1:n.2208A>C
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000494795
  gene symbol: SAMM50
  hgvsc: ENST00000494795.1:n.3088A>C
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000493621
  gene symbol: SAMM50
  hgvsc: ENST00000493621.1:n.276A>C
  variant of: http://identifiers.org/hgnc/24276
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47496
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ile466Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

22-44392252-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44392252
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44392252
    reference: chr 22
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100347
  ensembl protein: ENSP00000345445
  ensembl transcript: ENST00000350028
  gene symbol: SAMM50
  hgvsc: ENST00000350028.4:c.1399A>T
  hgvsp: ENSP00000345445.4:p.Arg467Trp
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000493621
  gene symbol: SAMM50
  hgvsc: ENST00000493621.1:n.279A>T
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+5966A>T
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000494795
  gene symbol: SAMM50
  hgvsc: ENST00000494795.1:n.3091A>T
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000474323
  gene symbol: SAMM50
  hgvsc: ENST00000474323.1:n.2211A>T
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100347
  ensembl protein: ENSP00000379505
  ensembl transcript: ENST00000396202
  gene symbol: SAMM50
  hgvsc: ENST00000396202.3:c.769A>T
  hgvsp: ENSP00000379505.3:p.Arg257Trp
  variant of: http://identifiers.org/hgnc/24276
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47496
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55822
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1108
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg467Trp
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

22-44392257-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44392257
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44392257
    reference: chr 22
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000474323
  gene symbol: SAMM50
  hgvsc: ENST00000474323.1:n.2216C>T
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100347
  ensembl protein: ENSP00000345445
  ensembl transcript: ENST00000350028
  gene symbol: SAMM50
  hgvsc: ENST00000350028.4:c.1404C>T
  hgvsp: ENST00000350028.4:c.1404C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100347
  ensembl protein: ENSP00000379505
  ensembl transcript: ENST00000396202
  gene symbol: SAMM50
  hgvsc: ENST00000396202.3:c.774C>T
  hgvsp: ENST00000396202.3:c.774C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000494795
  gene symbol: SAMM50
  hgvsc: ENST00000494795.1:n.3096C>T
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+5971C>T
  variant of: http://identifiers.org/hgnc/24276
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47495
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Phe468Phe
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

22-44392263-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44392263
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44392263
    reference: chr 22
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000100347
  ensembl protein: ENSP00000379505
  ensembl transcript: ENST00000396202
  gene symbol: SAMM50
  hgvsc: ENST00000396202.3:c.780G>C
  hgvsp: ENSP00000379505.3:p.Ter260TyrextTer43
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: true
  consequence: stop_lost
  ensembl gene: ENSG00000100347
  ensembl protein: ENSP00000345445
  ensembl transcript: ENST00000350028
  gene symbol: SAMM50
  hgvsc: ENST00000350028.4:c.1410G>C
  hgvsp: ENSP00000345445.4:p.Ter470TyrextTer43
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000474323
  gene symbol: SAMM50
  hgvsc: ENST00000474323.1:n.2222G>C
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+5977G>C
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000494795
  gene symbol: SAMM50
  hgvsc: ENST00000494795.1:n.3102G>C
  variant of: http://identifiers.org/hgnc/24276
canonical: true
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47495
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ter470TyrextTer43
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/22-44392270-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44392270
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44392270
    reference: chr 22
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000474323
  gene symbol: SAMM50
  hgvsc: ENST00000474323.1:n.2229C>A
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000494795
  gene symbol: SAMM50
  hgvsc: ENST00000494795.1:n.3109C>A
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100347
  ensembl protein: ENSP00000345445
  ensembl transcript: ENST00000350028
  gene symbol: SAMM50
  hgvsc: ENST00000350028.4:c.*7C>A
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100347
  ensembl protein: ENSP00000379505
  ensembl transcript: ENST00000396202
  gene symbol: SAMM50
  hgvsc: ENST00000396202.3:c.*7C>A
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+5984C>A
  variant of: http://identifiers.org/hgnc/24276
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47495
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP

22-44392270-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44392270
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44392270
    reference: chr 22
allele count: 2
allele frequency: 1.647446457990115e-5
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100347
  ensembl protein: ENSP00000379505
  ensembl transcript: ENST00000396202
  gene symbol: SAMM50
  hgvsc: ENST00000396202.3:c.*7C>G
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+5984C>G
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100347
  ensembl protein: ENSP00000345445
  ensembl transcript: ENST00000350028
  gene symbol: SAMM50
  hgvsc: ENST00000350028.4:c.*7C>G
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000474323
  gene symbol: SAMM50
  hgvsc: ENST00000474323.1:n.2229C>G
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000494795
  gene symbol: SAMM50
  hgvsc: ENST00000494795.1:n.3109C>G
  variant of: http://identifiers.org/hgnc/24276
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47495
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

22-44392272-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44392272
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44392272
    reference: chr 22
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100347
  ensembl protein: ENSP00000345445
  ensembl transcript: ENST00000350028
  gene symbol: SAMM50
  hgvsc: ENST00000350028.4:c.*9C>T
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100347
  ensembl protein: ENSP00000379505
  ensembl transcript: ENST00000396202
  gene symbol: SAMM50
  hgvsc: ENST00000396202.3:c.*9C>T
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+5986C>T
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000474323
  gene symbol: SAMM50
  hgvsc: ENST00000474323.1:n.2231C>T
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000494795
  gene symbol: SAMM50
  hgvsc: ENST00000494795.1:n.3111C>T
  variant of: http://identifiers.org/hgnc/24276
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47495
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1092
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

22-44392287-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44392287
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44392287
    reference: chr 22
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100347
  ensembl protein: ENSP00000379505
  ensembl transcript: ENST00000396202
  gene symbol: SAMM50
  hgvsc: ENST00000396202.3:c.*24C>G
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000494795
  gene symbol: SAMM50
  hgvsc: ENST00000494795.1:n.3126C>G
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000474323
  gene symbol: SAMM50
  hgvsc: ENST00000474323.1:n.2246C>G
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+6001C>G
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100347
  ensembl protein: ENSP00000345445
  ensembl transcript: ENST00000350028
  gene symbol: SAMM50
  hgvsc: ENST00000350028.4:c.*24C>G
  variant of: http://identifiers.org/hgnc/24276
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47495
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55821
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

22-44392290-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44392290
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44392290
    reference: chr 22
allele count: 3
allele frequency: 2.471210398853358e-5
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+6004G>A
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000474323
  gene symbol: SAMM50
  hgvsc: ENST00000474323.1:n.2249G>A
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000494795
  gene symbol: SAMM50
  hgvsc: ENST00000494795.1:n.3129G>A
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100347
  ensembl protein: ENSP00000379505
  ensembl transcript: ENST00000396202
  gene symbol: SAMM50
  hgvsc: ENST00000396202.3:c.*27G>A
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100347
  ensembl protein: ENSP00000345445
  ensembl transcript: ENST00000350028
  gene symbol: SAMM50
  hgvsc: ENST00000350028.4:c.*27G>A
  variant of: http://identifiers.org/hgnc/24276
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47496
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

22-44392294-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44392294
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44392294
    reference: chr 22
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100347
  ensembl protein: ENSP00000379505
  ensembl transcript: ENST00000396202
  gene symbol: SAMM50
  hgvsc: ENST00000396202.3:c.*31T>C
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000494795
  gene symbol: SAMM50
  hgvsc: ENST00000494795.1:n.3133T>C
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+6008T>C
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100347
  ensembl protein: ENSP00000345445
  ensembl transcript: ENST00000350028
  gene symbol: SAMM50
  hgvsc: ENST00000350028.4:c.*31T>C
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000474323
  gene symbol: SAMM50
  hgvsc: ENST00000474323.1:n.2253T>C
  variant of: http://identifiers.org/hgnc/24276
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47495
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/22-44392315-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44392315
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44392315
    reference: chr 22
allele count: 94
allele frequency: 7.743636213856166e-4
allele num: 121390
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+6029A>C
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100347
  ensembl protein: ENSP00000345445
  ensembl transcript: ENST00000350028
  gene symbol: SAMM50
  hgvsc: ENST00000350028.4:c.*52A>C
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100347
  ensembl protein: ENSP00000379505
  ensembl transcript: ENST00000396202
  gene symbol: SAMM50
  hgvsc: ENST00000396202.3:c.*52A>C
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000494795
  gene symbol: SAMM50
  hgvsc: ENST00000494795.1:n.3154A>C
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000474323
  gene symbol: SAMM50
  hgvsc: ENST00000474323.1:n.2274A>C
  variant of: http://identifiers.org/hgnc/24276
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 47500
  bin: 9.75e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 1
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

22-44395171-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44395171
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44395171
    reference: chr 22
allele count: 0
allele frequency: 0.0e0
allele num: 52498
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+8885C>T
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000188677
  ensembl protein: ENSP00000384515
  ensembl transcript: ENST00000406477
  gene symbol: PARVB
  hgvsc: ENST00000406477.3:c.-50C>T
  variant of: http://identifiers.org/hgnc/14653
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14397
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4811
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8138
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25377
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3805
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9262
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3193
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1802
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6171
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4028
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14049
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1060
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4824
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5364
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1348
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1385
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8848
  num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

22-44395172-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44395172
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44395172
    reference: chr 22
allele count: 2
allele frequency: 3.785584494245911e-5
allele num: 52832
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000188677
  ensembl protein: ENSP00000384515
  ensembl transcript: ENST00000406477
  gene symbol: PARVB
  hgvsc: ENST00000406477.3:c.-49T>C
  variant of: http://identifiers.org/hgnc/14653
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+8886T>C
  variant of: http://identifiers.org/hgnc/24276
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14382
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2237
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25389
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4721
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8137
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6201
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 855
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3192
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5369
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14984
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3976
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 792
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1128
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1594
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4875
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8448
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1355
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1784
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3821
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 1
  allele frequency: 2.093802345058626e-4
  allele num: 4776
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

22-44395180-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44395180
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44395180
    reference: chr 22
allele count: 0
allele frequency: 0.0e0
allele num: 53464
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000188677
  ensembl protein: ENSP00000384515
  ensembl transcript: ENST00000406477
  gene symbol: PARVB
  hgvsc: ENST00000406477.3:c.-41G>C
  variant of: http://identifiers.org/hgnc/14653
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+8894G>C
  variant of: http://identifiers.org/hgnc/24276
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25935
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7257
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3792
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14472
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 864
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3767
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3156
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20757
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1314
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5397
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4907
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3294
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3630
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6142
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1220
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3194
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 442
  num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

22-44395185-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44395185
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44395185
    reference: chr 22
allele count: 1
allele frequency: 1.832038692657189e-5
allele num: 54584
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000188677
  ensembl protein: ENSP00000384515
  ensembl transcript: ENST00000406477
  gene symbol: PARVB
  hgvsc: ENST00000406477.3:c.-36G>T
  variant of: http://identifiers.org/hgnc/14653
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+8899G>T
  variant of: http://identifiers.org/hgnc/24276
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5294
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26701
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14053
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6045
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2535
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4795
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6024
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4902
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3197
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2240
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4841
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3425
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23348
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2221
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 994
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 3.37655321447866e-5
  allele num: 29616
  num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

22-44395200-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44395200
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44395200
    reference: chr 22
allele count: 1
allele frequency: 1.694800352518473e-5
allele num: 59004
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+8914G>C
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000188677
  ensembl protein: ENSP00000384515
  ensembl transcript: ENST00000406477
  gene symbol: PARVB
  hgvsc: ENST00000406477.3:c.-21G>C
  variant of: http://identifiers.org/hgnc/14653
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27673
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2748
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11208
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10923
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4573
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1958
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2593
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26645
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10298
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4334
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3205
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1259
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 970
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 3304
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

22-44395202-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44395202
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44395202
    reference: chr 22
allele count: 1
allele frequency: 1.650655310158133e-5
allele num: 60582
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000188677
  ensembl protein: ENSP00000384515
  ensembl transcript: ENST00000406477
  gene symbol: PARVB
  hgvsc: ENST00000406477.3:c.-19G>A
  variant of: http://identifiers.org/hgnc/14653
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+8916G>A
  variant of: http://identifiers.org/hgnc/24276
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12044
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2466
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10494
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2190
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27369
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4186
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4383
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11354
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26655
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1855
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1331
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2324
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3209
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 3486
  num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

22-44395212-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44395212
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44395212
    reference: chr 22
allele count: 111
allele frequency: 1.679578743493524e-3
allele num: 66088
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+8926T>C
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000188677
  ensembl protein: ENSP00000384515
  ensembl transcript: ENST00000406477
  gene symbol: PARVB
  hgvsc: ENST00000406477.3:c.-9T>C
  variant of: http://identifiers.org/hgnc/14653
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 25656
  bin: 7.5e0
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8775
  bin: 1.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 1.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2656
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 15676
  bin: 2.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3583
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 8.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1507
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 9.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3537
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25264
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 8.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3307
  bin: 9.75e1
  variant carriers: 104
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 5.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1417
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1516
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14420
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 4.25e1
  variant carriers: 1
num of homozygotes: 1
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4478
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ

22-44395221-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44395221
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44395221
    reference: chr 22
allele count: 1
allele frequency: 1.390008618053432e-5
allele num: 71942
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: start_lost
  ensembl gene: ENSG00000188677
  ensembl protein: ENSP00000384515
  ensembl transcript: ENST00000406477
  gene symbol: PARVB
  hgvsc: ENST00000406477.3:c.1A>G
  hgvsp: ENSP00000384515.3:p.Met1?
  variant of: http://identifiers.org/hgnc/14653
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+8935A>G
  variant of: http://identifiers.org/hgnc/24276
canonical: true
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23285
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19146
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7607
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3149
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18611
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3220
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2952
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23561
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1187
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3104
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1001
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1710
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10780
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

22-44395228-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44395228
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44395228
    reference: chr 22
allele count: 2
allele frequency: 2.615473139090862e-5
allele num: 76468
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+8942A>G
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188677
  ensembl protein: ENSP00000384515
  ensembl transcript: ENST00000406477
  gene symbol: PARVB
  hgvsc: ENST00000406477.3:c.8A>G
  hgvsp: ENSP00000384515.3:p.His3Arg
  variant of: http://identifiers.org/hgnc/14653
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6952
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21265
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3544
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21534
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1847
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2786
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2638
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21827
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3223
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20583
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 4.25e1
  variant carriers: 0
hgvs: p.His3Arg
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 1
  allele frequency: 1.810938065918146e-4
  allele num: 5522
  num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: African
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

22-44395229-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44395229
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44395229
    reference: chr 22
allele count: 2
allele frequency: 2.595717066839715e-5
allele num: 77050
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188677
  ensembl protein: ENSP00000384515
  ensembl transcript: ENST00000406477
  gene symbol: PARVB
  hgvsc: ENST00000406477.3:c.9T>C
  hgvsp: ENST00000406477.3:c.9T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14653
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+8943T>C
  variant of: http://identifiers.org/hgnc/24276
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3568
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21010
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6873
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21925
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3222
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2755
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2584
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21377
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21667
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1865
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 5.25e1
  variant carriers: 0
hgvs: p.His3His
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 616
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD

22-44395230-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44395230
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44395230
    reference: chr 22
allele count: 0
allele frequency: 0.0e0
allele num: 77534
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+8944G>A
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188677
  ensembl protein: ENSP00000384515
  ensembl transcript: ENST00000406477
  gene symbol: PARVB
  hgvsc: ENST00000406477.3:c.10G>A
  hgvsp: ENSP00000384515.3:p.Val4Met
  variant of: http://identifiers.org/hgnc/14653
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3606
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22167
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20734
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6844
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3223
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21429
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21529
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1048
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2739
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2576
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1864
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val4Met
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4914
  num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

22-44395253-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44395253
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44395253
    reference: chr 22
allele count: 1
allele frequency: 1.156256503942835e-5
allele num: 86486
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+8967A>T
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188677
  ensembl protein: ENSP00000384515
  ensembl transcript: ENST00000406477
  gene symbol: PARVB
  hgvsc: ENST00000406477.3:c.33A>T
  hgvsp: ENST00000406477.3:c.33A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14653
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24933
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2415
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4634
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6646
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16617
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18179
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3226
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25015
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2474
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2409
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1161
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2059
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly11Gly
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 664
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum

22-44395254-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44395254
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44395254
    reference: chr 22
allele count: 2
allele frequency: 2.311390532544379e-5
allele num: 86528
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+8968G>T
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000188677
  ensembl protein: ENSP00000384515
  ensembl transcript: ENST00000406477
  gene symbol: PARVB
  hgvsc: ENST00000406477.3:c.34G>T
  hgvsp: ENSP00000384515.3:p.Glu12Ter
  variant of: http://identifiers.org/hgnc/14653
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24383
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4631
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16570
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2731
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6904
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1099
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2561
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1372
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2562
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18158
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3226
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23287
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2018
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu12Ter
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 1
  allele frequency: 1.598976654940838e-4
  allele num: 6254
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

22-44395263-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44395263
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44395263
    reference: chr 22
allele count: 1
allele frequency: 1.13435273832751e-5
allele num: 88156
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+8977G>A
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188677
  ensembl protein: ENSP00000384515
  ensembl transcript: ENST00000406477
  gene symbol: PARVB
  hgvsc: ENST00000406477.3:c.43G>A
  hgvsp: ENSP00000384515.3:p.Gly15Arg
  variant of: http://identifiers.org/hgnc/14653
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3790
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7710
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23192
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15690
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4795
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22606
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1684
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1314
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17718
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1011
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2941
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3226
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2012
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2740
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly15Arg
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 12224
  num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

22-44395269-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44395269
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44395269
    reference: chr 22
allele count: 1
allele frequency: 1.124910007199424e-5
allele num: 88896
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+8983C>G
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188677
  ensembl protein: ENSP00000384515
  ensembl transcript: ENST00000406477
  gene symbol: PARVB
  hgvsc: ENST00000406477.3:c.49C>G
  hgvsp: ENSP00000384515.3:p.Leu17Val
  variant of: http://identifiers.org/hgnc/14653
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22329
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4406
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15276
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8309
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4833
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1076
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17665
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3228
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2010
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1186
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2919
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3175
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1937
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22285
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu17Val
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7356
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

22-44395269-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44395269
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44395269
    reference: chr 22
allele count: 2
allele frequency: 2.249820014398848e-5
allele num: 88896
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188677
  ensembl protein: ENSP00000384515
  ensembl transcript: ENST00000406477
  gene symbol: PARVB
  hgvsc: ENST00000406477.3:c.49C>T
  hgvsp: ENSP00000384515.3:p.Leu17Phe
  variant of: http://identifiers.org/hgnc/14653
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+8983C>T
  variant of: http://identifiers.org/hgnc/24276
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22329
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8309
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4833
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4406
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15276
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2919
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17665
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1937
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1076
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1186
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22285
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2010
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3175
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3228
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu17Phe
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 12324
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

22-44395270-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44395270
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44395270
    reference: chr 22
allele count: 14
allele frequency: 1.571268237934905e-4
allele num: 89100
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188677
  ensembl protein: ENSP00000384515
  ensembl transcript: ENST00000406477
  gene symbol: PARVB
  hgvsc: ENST00000406477.3:c.50T>G
  hgvsp: ENSP00000384515.3:p.Leu17Arg
  variant of: http://identifiers.org/hgnc/14653
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+8984T>G
  variant of: http://identifiers.org/hgnc/24276
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4811
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8456
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15220
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22138
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4535
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22218
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2007
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3210
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3236
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2030
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2924
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1158
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17704
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu17Arg
num of homozygotes: 0
population: Other
  type: Population
  allele count: 1
  allele frequency: 1.449275362318841e-3
  allele num: 690
  num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

22-44395274-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44395274
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44395274
    reference: chr 22
allele count: 1
allele frequency: 1.118568232662192e-5
allele num: 89400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+8988T>G
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188677
  ensembl protein: ENSP00000384515
  ensembl transcript: ENST00000406477
  gene symbol: PARVB
  hgvsc: ENST00000406477.3:c.54T>G
  hgvsp: ENSP00000384515.3:p.Ser18Arg
  variant of: http://identifiers.org/hgnc/14653
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21403
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8917
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4713
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5099
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15007
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21206
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3226
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2017
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2242
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3430
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3045
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17695
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1240
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser18Arg
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 2.009242515571629e-5
  allele num: 49770
  num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

22-44395280-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44395280
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44395280
    reference: chr 22
allele count: 10
allele frequency: 1.109582353202255e-4
allele num: 90124
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188677
  ensembl protein: ENSP00000384515
  ensembl transcript: ENST00000406477
  gene symbol: PARVB
  hgvsc: ENST00000406477.3:c.60G>A
  hgvsp: ENST00000406477.3:c.60G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14653
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+8994G>A
  variant of: http://identifiers.org/hgnc/24276
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20448
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14581
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9561
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5766
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4742
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17608
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2018
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3753
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3182
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20505
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3234
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 2520
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1258
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu20Glu
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 692
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/22-44395283-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44395283
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44395283
    reference: chr 22
allele count: 3
allele frequency: 3.321523472099203e-5
allele num: 90320
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188677
  ensembl protein: ENSP00000384515
  ensembl transcript: ENST00000406477
  gene symbol: PARVB
  hgvsc: ENST00000406477.3:c.63C>A
  hgvsp: ENSP00000384515.3:p.Asn21Lys
  variant of: http://identifiers.org/hgnc/14653
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+8997C>A
  variant of: http://identifiers.org/hgnc/24276
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6313
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14397
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4715
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19660
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9918
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19584
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17537
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3300
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3350
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2765
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1360
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1987
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3931
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asn21Lys
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6442
  num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

22-44395283-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44395283
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44395283
    reference: chr 22
allele count: 132
allele frequency: 1.461470327723649e-3
allele num: 90320
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+8997C>G
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188677
  ensembl protein: ENSP00000384515
  ensembl transcript: ENST00000406477
  gene symbol: PARVB
  hgvsc: ENST00000406477.3:c.63C>G
  hgvsp: ENSP00000384515.3:p.Asn21Lys
  variant of: http://identifiers.org/hgnc/14653
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 14397
  bin: 7.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9918
  bin: 1.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19660
  bin: 2.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4715
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6313
  bin: 1.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 4.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 3.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3300
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3931
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19584
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1360
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2765
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 9.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 3350
  bin: 9.75e1
  variant carriers: 124
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1987
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17537
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asn21Lys
num of homozygotes: 3
population: East Asian
  type: Population
  allele count: 1
  allele frequency: 1.552312946289972e-4
  allele num: 6442
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD

22-44395299-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44395299
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44395299
    reference: chr 22
allele count: 1
allele frequency: 1.092824514239503e-5
allele num: 91506
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188677
  ensembl protein: ENSP00000384515
  ensembl transcript: ENST00000406477
  gene symbol: PARVB
  hgvsc: ENST00000406477.3:c.71+8G>A
  variant of: http://identifiers.org/hgnc/14653
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+9013G>A
  variant of: http://identifiers.org/hgnc/24276
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11264
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4714
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13652
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16782
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8462
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4813
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3733
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16984
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 863
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3745
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16039
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1931
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3242
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1287
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1998
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1595
  bin: 4.25e1
  variant carriers: 0
hgvs: c.71+8G>A
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7608
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

22-44395302-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44395302
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44395302
    reference: chr 22
allele count: 1
allele frequency: 1.089111067546668e-5
allele num: 91818
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+9016A>T
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188677
  ensembl protein: ENSP00000384515
  ensembl transcript: ENST00000406477
  gene symbol: PARVB
  hgvsc: ENST00000406477.3:c.71+11A>T
  variant of: http://identifiers.org/hgnc/14653
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8758
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13504
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11458
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16410
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4696
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3787
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3241
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5000
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15047
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1674
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3939
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 882
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2067
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2014
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1473
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16663
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 1
  allele frequency: 1.537988311288834e-4
  allele num: 6502
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

22-44395304-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44395304
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44395304
    reference: chr 22
allele count: 1
allele frequency: 1.087452967659149e-5
allele num: 91958
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188677
  ensembl protein: ENSP00000384515
  ensembl transcript: ENST00000406477
  gene symbol: PARVB
  hgvsc: ENST00000406477.3:c.71+13T>A
  variant of: http://identifiers.org/hgnc/14653
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+9018T>A
  variant of: http://identifiers.org/hgnc/24276
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16422
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13436
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4715
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8778
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11452
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1354
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5003
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3783
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 911
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16663
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2029
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2082
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3960
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1669
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15572
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3242
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6494
  num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff

22-44395313-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44395313
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44395313
    reference: chr 22
allele count: 1
allele frequency: 1.078841755491305e-5
allele num: 92692
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+9027A>G
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188677
  ensembl protein: ENSP00000384515
  ensembl transcript: ENST00000406477
  gene symbol: PARVB
  hgvsc: ENST00000406477.3:c.71+22A>G
  variant of: http://identifiers.org/hgnc/14653
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11337
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16488
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9053
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12993
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4807
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4141
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2090
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15915
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5152
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2202
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1010
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1390
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3784
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1716
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3243
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15298
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 51466
  num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

22-44395314-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44395314
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44395314
    reference: chr 22
allele count: 6
allele frequency: 6.483962998184491e-5
allele num: 92536
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+9028C>T
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188677
  ensembl protein: ENSP00000384515
  ensembl transcript: ENST00000406477
  gene symbol: PARVB
  hgvsc: ENST00000406477.3:c.71+23C>T
  variant of: http://identifiers.org/hgnc/14653
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16430
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4876
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11317
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9116
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12870
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 815
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2076
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4140
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5154
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1416
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3246
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 756
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15777
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3778
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15145
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1706
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2264
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6482
  num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

22-44395317-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44395317
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44395317
    reference: chr 22
allele count: 1
allele frequency: 1.073122572060181e-5
allele num: 93186
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+9031A>G
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188677
  ensembl protein: ENSP00000384515
  ensembl transcript: ENST00000406477
  gene symbol: PARVB
  hgvsc: ENST00000406477.3:c.71+26A>G
  variant of: http://identifiers.org/hgnc/14653
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16707
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12667
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4946
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9085
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15249
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15412
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1725
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4137
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3738
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3244
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2310
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1037
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5157
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1529
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2168
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5712
  num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD

22-44395318-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44395318
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44395318
    reference: chr 22
allele count: 1
allele frequency: 1.070045155905579e-5
allele num: 93454
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188677
  ensembl protein: ENSP00000384515
  ensembl transcript: ENST00000406477
  gene symbol: PARVB
  hgvsc: ENST00000406477.3:c.71+27T>A
  variant of: http://identifiers.org/hgnc/14653
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+9032T>A
  variant of: http://identifiers.org/hgnc/24276
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8917
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12600
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16964
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4970
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3714
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1681
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2219
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15443
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1355
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3244
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2178
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5116
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4088
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16039
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6534
  num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

22-44395322-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44395322
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44395322
    reference: chr 22
allele count: 0
allele frequency: 0.0e0
allele num: 93720
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+9036G>T
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188677
  ensembl protein: ENSP00000384515
  ensembl transcript: ENST00000406477
  gene symbol: PARVB
  hgvsc: ENST00000406477.3:c.71+31G>T
  variant of: http://identifiers.org/hgnc/14653
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 10874
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8842
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12293
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4996
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2265
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3656
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1068
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15492
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4030
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14749
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3245
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2269
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5062
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1648
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 814
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1675
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 980
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 13334
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

22-44395333-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44395333
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44395333
    reference: chr 22
allele count: 3
allele frequency: 3.11701265507138e-5
allele num: 96246
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188677
  ensembl protein: ENSP00000384515
  ensembl transcript: ENST00000406477
  gene symbol: PARVB
  hgvsc: ENST00000406477.3:c.71+42G>A
  variant of: http://identifiers.org/hgnc/14653
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+9047G>A
  variant of: http://identifiers.org/hgnc/24276
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7070
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11135
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5632
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9803
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20777
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13122
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3464
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1399
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 939
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18814
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3237
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 975
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1528
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1038
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2756
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1852
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4513
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3257
  bin: 9.75e1
  variant carriers: 5
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.877158732542424e-5
  allele num: 53272
  num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

22-44395333-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44395333
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44395333
    reference: chr 22
allele count: 3
allele frequency: 3.11701265507138e-5
allele num: 96246
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+9047G>T
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188677
  ensembl protein: ENSP00000384515
  ensembl transcript: ENST00000406477
  gene symbol: PARVB
  hgvsc: ENST00000406477.3:c.71+42G>T
  variant of: http://identifiers.org/hgnc/14653
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9803
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7070
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5632
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20777
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18814
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13122
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 975
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1399
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3257
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4513
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1852
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 939
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3464
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1528
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2756
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3237
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1038
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7984
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ

22-44395338-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44395338
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44395338
    reference: chr 22
allele count: 1
allele frequency: 1.020845668551828e-5
allele num: 97958
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+9052A>G
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188677
  ensembl protein: ENSP00000384515
  ensembl transcript: ENST00000406477
  gene symbol: PARVB
  hgvsc: ENST00000406477.3:c.71+47A>G
  variant of: http://identifiers.org/hgnc/14653
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 6257
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10410
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22460
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9191
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6040
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3099
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1080
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12370
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1606
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4111
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2939
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3255
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1392
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1191
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21316
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3129
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 742
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

22-44395339-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44395339
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44395339
    reference: chr 22
allele count: 13
allele frequency: 1.325664871920379e-4
allele num: 98064
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+9053C>T
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188677
  ensembl protein: ENSP00000384515
  ensembl transcript: ENST00000406477
  gene symbol: PARVB
  hgvsc: ENST00000406477.3:c.71+48C>T
  variant of: http://identifiers.org/hgnc/14653
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10252
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9045
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6422
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22679
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5888
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2891
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3184
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3061
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12094
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1207
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1577
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1083
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4038
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1470
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20970
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3269
  bin: 9.75e1
  variant carriers: 13
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 14050
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD

22-44395340-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44395340
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44395340
    reference: chr 22
allele count: 1
allele frequency: 1.013335495115723e-5
allele num: 98684
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188677
  ensembl protein: ENSP00000384515
  ensembl transcript: ENST00000406477
  gene symbol: PARVB
  hgvsc: ENST00000406477.3:c.71+49T>C
  variant of: http://identifiers.org/hgnc/14653
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+9054T>C
  variant of: http://identifiers.org/hgnc/24276
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5623
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6583
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23109
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8853
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1488
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1126
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1271
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1136
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11946
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3344
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2932
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3954
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3264
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2801
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22019
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1275
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8174
  num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP

22-44395340-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44395340
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44395340
    reference: chr 22
allele count: 1
allele frequency: 1.013335495115723e-5
allele num: 98684
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188677
  ensembl protein: ENSP00000384515
  ensembl transcript: ENST00000406477
  gene symbol: PARVB
  hgvsc: ENST00000406477.3:c.71+49T>G
  variant of: http://identifiers.org/hgnc/14653
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+9054T>G
  variant of: http://identifiers.org/hgnc/24276
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23109
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8853
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6583
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5623
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11946
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2932
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3264
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3344
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1271
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3954
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1126
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1136
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22019
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2801
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1275
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1488
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6020
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

22-44395368-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44395368
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44395368
    reference: chr 22
allele count: 1
allele frequency: 8.505571149102662e-6
allele num: 117570
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+9082G>A
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188677
  ensembl protein: ENSP00000384515
  ensembl transcript: ENST00000406477
  gene symbol: PARVB
  hgvsc: ENST00000406477.3:c.72-46G>A
  variant of: http://identifiers.org/hgnc/14653
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4900
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11551
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10268
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4326
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2720
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6723
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9908
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2469
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2311
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9221
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3131
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5571
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16886
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1616
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4462
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1088
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1319
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1311
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2271
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3171
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4121
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1794
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 878
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/22-44395369-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44395369
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44395369
    reference: chr 22
allele count: 1
allele frequency: 8.496465470364328e-6
allele num: 117696
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+9083A>C
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188677
  ensembl protein: ENSP00000384515
  ensembl transcript: ENST00000406477
  gene symbol: PARVB
  hgvsc: ENST00000406477.3:c.72-45A>C
  variant of: http://identifiers.org/hgnc/14653
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11579
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2713
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2468
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9961
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4521
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10566
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6732
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4331
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1298
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4167
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1399
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10006
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4510
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1332
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2104
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1583
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16895
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3194
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2318
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5640
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3161
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16454
  num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

22-44395370-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44395370
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44395370
    reference: chr 22
allele count: 1
allele frequency: 8.499787505312367e-6
allele num: 117650
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188677
  ensembl protein: ENSP00000384515
  ensembl transcript: ENST00000406477
  gene symbol: PARVB
  hgvsc: ENST00000406477.3:c.72-44G>A
  variant of: http://identifiers.org/hgnc/14653
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+9084G>A
  variant of: http://identifiers.org/hgnc/24276
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2696
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10006
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4336
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10803
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2469
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6737
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4205
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11627
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1954
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3160
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4508
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1280
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1338
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4179
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5668
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2329
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16896
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3195
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10310
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1572
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 64782
  num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum

22-44395375-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44395375
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44395375
    reference: chr 22
allele count: 2
allele frequency: 1.698398410299088e-5
allele num: 117758
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188677
  ensembl protein: ENSP00000384515
  ensembl transcript: ENST00000406477
  gene symbol: PARVB
  hgvsc: ENST00000406477.3:c.72-39T>A
  variant of: http://identifiers.org/hgnc/14653
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+9089T>A
  variant of: http://identifiers.org/hgnc/24276
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2469
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11930
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4347
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2462
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11954
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2690
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6773
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10272
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4572
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1216
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5844
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1181
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1426
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12057
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2366
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4256
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3203
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3224
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16915
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1338
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 878
  num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum

22-44395380-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44395380
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44395380
    reference: chr 22
allele count: 1
allele frequency: 8.4870911343846e-6
allele num: 117826
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+9094C>G
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188677
  ensembl protein: ENSP00000384515
  ensembl transcript: ENST00000406477
  gene symbol: PARVB
  hgvsc: ENST00000406477.3:c.72-34C>G
  variant of: http://identifiers.org/hgnc/14653
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4373
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2005
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12784
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12313
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6845
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10597
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2409
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1051
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1418
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3261
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4687
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3261
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13068
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6001
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16943
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4363
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 880
  num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

22-44395381-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44395381
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44395381
    reference: chr 22
allele count: 1
allele frequency: 8.490838385382172e-6
allele num: 117774
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+9095C>T
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188677
  ensembl protein: ENSP00000384515
  ensembl transcript: ENST00000406477
  gene symbol: PARVB
  hgvsc: ENST00000406477.3:c.72-33C>T
  variant of: http://identifiers.org/hgnc/14653
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12569
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12696
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4399
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10754
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6889
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3241
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 967
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 932
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13137
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4384
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1408
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5975
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4710
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16957
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3266
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2416
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 64886
  num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

22-44395382-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44395382
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44395382
    reference: chr 22
allele count: 3
allele frequency: 2.543364362378554e-5
allele num: 117954
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188677
  ensembl protein: ENSP00000384515
  ensembl transcript: ENST00000406477
  gene symbol: PARVB
  hgvsc: ENST00000406477.3:c.72-32G>A
  variant of: http://identifiers.org/hgnc/14653
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+9096G>A
  variant of: http://identifiers.org/hgnc/24276
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6915
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2493
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10924
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12782
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4417
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1386
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3310
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4840
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13319
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17026
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2458
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4500
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6088
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3303
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16428
  num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/22-44395389-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44395389
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44395389
    reference: chr 22
allele count: 52967
allele frequency: 4.431791559289133e-1
allele num: 119516
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+9103A>C
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188677
  ensembl protein: ENSP00000384515
  ensembl transcript: ENST00000406477
  gene symbol: PARVB
  hgvsc: ENST00000406477.3:c.72-25A>C
  variant of: http://identifiers.org/hgnc/14653
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3364
  bin: 5.75e1
  variant carriers: 3066
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 1.25e1
  variant carriers: 312
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.5e0
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 7602
  bin: 3.75e1
  variant carriers: 5290
genotype depth: GenotypeDepth
  all individuals: 7066
  bin: 4.25e1
  variant carriers: 5511
genotype depth: GenotypeDepth
  all individuals: 7958
  bin: 3.25e1
  variant carriers: 4242
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 1.75e1
  variant carriers: 644
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 8.75e1
  variant carriers: 415
genotype depth: GenotypeDepth
  all individuals: 5740
  bin: 2.25e1
  variant carriers: 1538
genotype depth: GenotypeDepth
  all individuals: 2425
  bin: 6.25e1
  variant carriers: 2258
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 9.25e1
  variant carriers: 329
genotype depth: GenotypeDepth
  all individuals: 7201
  bin: 2.75e1
  variant carriers: 2756
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 7.25e1
  variant carriers: 1176
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 7.75e1
  variant carriers: 800
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 6.75e1
  variant carriers: 1568
genotype depth: GenotypeDepth
  all individuals: 4594
  bin: 5.25e1
  variant carriers: 4068
genotype depth: GenotypeDepth
  all individuals: 5736
  bin: 4.75e1
  variant carriers: 4894
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 9.75e1
  variant carriers: 1621
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 8.25e1
  variant carriers: 550
genotype quality: GenotypeQuality
  all individuals: 2318
  bin: 6.75e1
  variant carriers: 264
genotype quality: GenotypeQuality
  all individuals: 43050
  bin: 9.75e1
  variant carriers: 38087
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.5e0
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 4.25e1
  variant carriers: 90
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 4.75e1
  variant carriers: 111
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.75e1
  variant carriers: 40
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 3.25e1
  variant carriers: 82
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 3.75e1
  variant carriers: 87
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.75e1
  variant carriers: 40
genotype quality: GenotypeQuality
  all individuals: 994
  bin: 8.75e1
  variant carriers: 226
genotype quality: GenotypeQuality
  all individuals: 1912
  bin: 7.75e1
  variant carriers: 375
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 5.75e1
  variant carriers: 125
genotype quality: GenotypeQuality
  all individuals: 1511
  bin: 9.25e1
  variant carriers: 476
genotype quality: GenotypeQuality
  all individuals: 5423
  bin: 6.25e1
  variant carriers: 205
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 5.25e1
  variant carriers: 141
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 7.5e0
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 1265
  bin: 7.25e1
  variant carriers: 219
genotype quality: GenotypeQuality
  all individuals: 1800
  bin: 8.25e1
  variant carriers: 451
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 2.25e1
  variant carriers: 30
num of homozygotes: 12015
population: East Asian
  type: Population
  allele count: 4174
  allele frequency: 4.963139120095125e-1
  allele num: 8410
  num of homozygotes: 1013
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

22-44395405-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44395405
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44395405
    reference: chr 22
allele count: 1
allele frequency: 8.295726041943191e-6
allele num: 120544
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188677
  ensembl protein: ENSP00000384515
  ensembl transcript: ENST00000406477
  gene symbol: PARVB
  hgvsc: ENST00000406477.3:c.72-9T>C
  variant of: http://identifiers.org/hgnc/14653
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+9119T>C
  variant of: http://identifiers.org/hgnc/24276
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8097
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5785
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7251
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6582
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7550
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7080
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3386
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4601
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1831
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7422
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1906
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36303
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3285
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3051
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3115
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3068
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 898
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS

22-44395411-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44395411
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44395411
    reference: chr 22
allele count: 1
allele frequency: 8.288849839196314e-6
allele num: 120644
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188677
  ensembl protein: ENSP00000384515
  ensembl transcript: ENST00000406477
  gene symbol: PARVB
  hgvsc: ENST00000406477.3:c.72-3C>T
  variant of: http://identifiers.org/hgnc/14653
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+9125C>T
  variant of: http://identifiers.org/hgnc/24276
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4602
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3386
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7560
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8140
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6653
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7277
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5793
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7092
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3131
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1834
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7532
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1915
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3058
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3302
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3076
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36321
  bin: 9.75e1
  variant carriers: 1
hgvs: c.72-3C>T
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD

22-44395416-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44395416
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44395416
    reference: chr 22
allele count: 1
allele frequency: 8.28363154406892e-6
allele num: 120720
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000188677
  ensembl protein: ENSP00000384515
  ensembl transcript: ENST00000406477
  gene symbol: PARVB
  hgvsc: ENST00000406477.3:c.74G>C
  hgvsp: ENSP00000384515.3:p.Arg25Thr
  variant of: http://identifiers.org/hgnc/14653
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+9130G>C
  variant of: http://identifiers.org/hgnc/24276
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5795
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7290
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7094
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3387
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8170
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7558
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6675
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4604
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1922
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3089
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3149
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36335
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3310
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3073
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7570
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1835
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg25Thr
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8618
  num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum

22-44395417-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44395417
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44395417
    reference: chr 22
allele count: 1
allele frequency: 8.283357078956959e-6
allele num: 120724
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+9131G>C
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188677
  ensembl protein: ENSP00000384515
  ensembl transcript: ENST00000406477
  gene symbol: PARVB
  hgvsc: ENST00000406477.3:c.75G>C
  hgvsp: ENSP00000384515.3:p.Arg25Ser
  variant of: http://identifiers.org/hgnc/14653
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6675
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8168
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7094
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4605
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3387
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7293
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7561
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5794
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3311
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3150
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3090
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36335
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7576
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1922
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3074
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1835
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg25Ser
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8622
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

22-44395423-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44395423
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44395423
    reference: chr 22
allele count: 2
allele frequency: 1.656342134031205e-5
allele num: 120748
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+9137G>A
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188677
  ensembl protein: ENSP00000384515
  ensembl transcript: ENST00000406477
  gene symbol: PARVB
  hgvsc: ENST00000406477.3:c.81G>A
  hgvsp: ENST00000406477.3:c.81G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14653
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7095
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4604
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7557
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5798
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6669
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7304
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3389
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8184
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3309
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3155
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3079
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1837
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7583
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3091
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1922
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36344
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Leu27Leu
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 900
  num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

22-44395429-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44395429
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44395429
    reference: chr 22
allele count: 18
allele frequency: 1.490609162277651e-4
allele num: 120756
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+9143G>T
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188677
  ensembl protein: ENSP00000384515
  ensembl transcript: ENST00000406477
  gene symbol: PARVB
  hgvsc: ENST00000406477.3:c.87G>T
  hgvsp: ENST00000406477.3:c.87G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14653
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5802
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6661
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7097
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7302
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8193
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3392
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7550
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4604
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1834
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3308
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3081
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1921
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3157
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7582
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3093
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36354
  bin: 9.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu29Leu
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16512
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

22-44395433-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44395433
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44395433
    reference: chr 22
allele count: 1
allele frequency: 8.281299170213822e-6
allele num: 120754
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188677
  ensembl protein: ENSP00000384515
  ensembl transcript: ENST00000406477
  gene symbol: PARVB
  hgvsc: ENST00000406477.3:c.91C>T
  hgvsp: ENSP00000384515.3:p.Arg31Cys
  variant of: http://identifiers.org/hgnc/14653
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+9147C>T
  variant of: http://identifiers.org/hgnc/24276
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8198
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3392
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4606
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6655
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5801
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7550
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7097
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7304
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36355
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1833
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3091
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3082
  bin: 9.25e1
  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: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3159
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3311
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7583
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1924
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg31Cys
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16510
  num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD

22-44395434-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44395434
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44395434
    reference: chr 22
allele count: 163
allele frequency: 1.34978469691951e-3
allele num: 120760
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+9148G>A
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188677
  ensembl protein: ENSP00000384515
  ensembl transcript: ENST00000406477
  gene symbol: PARVB
  hgvsc: ENST00000406477.3:c.92G>A
  hgvsp: ENSP00000384515.3:p.Arg31His
  variant of: http://identifiers.org/hgnc/14653
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7536
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4603
  bin: 5.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 8184
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 8.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 7282
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 6.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 3390
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 6654
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5785
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7074
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 9.75e1
  variant carriers: 71
genotype quality: GenotypeQuality
  all individuals: 1921
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3306
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36401
  bin: 9.75e1
  variant carriers: 162
genotype quality: GenotypeQuality
  all individuals: 3150
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1831
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7586
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3082
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3074
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg31His
num of homozygotes: 1
population: African
  type: Population
  allele count: 152
  allele frequency: 1.550703937971843e-2
  allele num: 9802
  num of homozygotes: 1
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

22-44395443-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44395443
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44395443
    reference: chr 22
allele count: 1
allele frequency: 8.280476292996373e-6
allele num: 120766
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+9157C>T
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188677
  ensembl protein: ENSP00000384515
  ensembl transcript: ENST00000406477
  gene symbol: PARVB
  hgvsc: ENST00000406477.3:c.101C>T
  hgvsp: ENSP00000384515.3:p.Ser34Phe
  variant of: http://identifiers.org/hgnc/14653
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7076
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5784
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8180
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7538
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4603
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1829
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7285
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2554
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3386
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6659
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3306
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3072
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36405
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3084
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7587
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1921
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3153
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1830
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser34Phe
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 6.056201550387597e-5
  allele num: 16512
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

22-44395445-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44395445
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44395445
    reference: chr 22
allele count: 1
allele frequency: 8.280476292996373e-6
allele num: 120766
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188677
  ensembl protein: ENSP00000384515
  ensembl transcript: ENST00000406477
  gene symbol: PARVB
  hgvsc: ENST00000406477.3:c.103T>G
  hgvsp: ENSP00000384515.3:p.Cys35Gly
  variant of: http://identifiers.org/hgnc/14653
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+9159T>G
  variant of: http://identifiers.org/hgnc/24276
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6659
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4603
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7285
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7537
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3386
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8180
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7075
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5784
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3304
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1831
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36409
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7582
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3154
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3085
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3070
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1921
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Cys35Gly
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16512
  num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

22-44395447-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44395447
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44395447
    reference: chr 22
allele count: 1
allele frequency: 8.280339162692104e-6
allele num: 120768
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+9161C>T
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188677
  ensembl protein: ENSP00000384515
  ensembl transcript: ENST00000406477
  gene symbol: PARVB
  hgvsc: ENST00000406477.3:c.105C>T
  hgvsp: ENST00000406477.3:c.105C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14653
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7289
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7074
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4603
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6658
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5785
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7535
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3386
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2556
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8181
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3155
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3086
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3070
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7581
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1921
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3305
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36409
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1831
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Cys35Cys
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11576
  num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

22-44395449-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44395449
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44395449
    reference: chr 22
allele count: 1
allele frequency: 8.280339162692104e-6
allele num: 120768
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188677
  ensembl protein: ENSP00000384515
  ensembl transcript: ENST00000406477
  gene symbol: PARVB
  hgvsc: ENST00000406477.3:c.107G>T
  hgvsp: ENSP00000384515.3:p.Ser36Ile
  variant of: http://identifiers.org/hgnc/14653
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+9163G>T
  variant of: http://identifiers.org/hgnc/24276
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2556
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7291
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7074
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8182
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6656
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5784
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4603
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7535
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3386
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3070
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1831
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1921
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3087
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3304
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36410
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3155
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7579
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser36Ile
num of homozygotes: 0
population: African
  type: Population
  allele count: 1
  allele frequency: 1.020199959192002e-4
  allele num: 9802
  num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: DP

22-44395451-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44395451
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44395451
    reference: chr 22
allele count: 53479
allele frequency: 4.429562999039194e-1
allele num: 120732
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+9165T>C
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188677
  ensembl protein: ENSP00000384515
  ensembl transcript: ENST00000406477
  gene symbol: PARVB
  hgvsc: ENST00000406477.3:c.109T>C
  hgvsp: ENSP00000384515.3:p.Trp37Arg
  variant of: http://identifiers.org/hgnc/14653
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4509
  bin: 2.75e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 7.25e1
  variant carriers: 961
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 4.25e1
  variant carriers: 120
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 6.25e1
  variant carriers: 618
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 5.25e1
  variant carriers: 314
genotype depth: GenotypeDepth
  all individuals: 3890
  bin: 3.25e1
  variant carriers: 78
genotype depth: GenotypeDepth
  all individuals: 31752
  bin: 9.75e1
  variant carriers: 31578
genotype depth: GenotypeDepth
  all individuals: 2449
  bin: 3.75e1
  variant carriers: 108
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 8.25e1
  variant carriers: 1383
genotype depth: GenotypeDepth
  all individuals: 4445
  bin: 2.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 9.25e1
  variant carriers: 1781
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 4.75e1
  variant carriers: 255
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 5.75e1
  variant carriers: 492
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 6.75e1
  variant carriers: 727
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 8.75e1
  variant carriers: 1542
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 7.75e1
  variant carriers: 1202
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2192
  bin: 6.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1091
  bin: 7.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 46415
  bin: 9.75e1
  variant carriers: 41179
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 8.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1608
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 5651
  bin: 6.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1119
  bin: 9.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 1432
  bin: 8.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 2
hgvs: p.Trp37Arg
num of homozygotes: 12254
population: Other
  type: Population
  allele count: 414
  allele frequency: 4.6e-1
  allele num: 900
  num of homozygotes: 87
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

22-44395452-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44395452
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44395452
    reference: chr 22
allele count: 8
allele frequency: 6.624381034397098e-5
allele num: 120766
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000188677
  ensembl protein: ENSP00000384515
  ensembl transcript: ENST00000406477
  gene symbol: PARVB
  hgvsc: ENST00000406477.3:c.110G>A
  hgvsp: ENSP00000384515.3:p.Trp37Ter
  variant of: http://identifiers.org/hgnc/14653
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+9166G>A
  variant of: http://identifiers.org/hgnc/24276
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5656
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3257
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3065
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3730
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3890
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1832
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7423
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5223
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3545
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5008
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3999
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2322
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3839
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2740
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2196
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9549
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2067
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1273
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3413
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1526
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38396
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 1940
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Trp37Ter
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11576
  num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

22-44395459-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44395459
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44395459
    reference: chr 22
allele count: 1
allele frequency: 8.280339162692104e-6
allele num: 120768
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+9173G>T
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188677
  ensembl protein: ENSP00000384515
  ensembl transcript: ENST00000406477
  gene symbol: PARVB
  hgvsc: ENST00000406477.3:c.117G>T
  hgvsp: ENST00000406477.3:c.117G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14653
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5225
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5003
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3729
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3842
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5655
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3064
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3546
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3891
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2740
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3257
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7423
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4000
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1833
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2198
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9550
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1940
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1273
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1527
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38392
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2068
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3410
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu39Leu
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

22-44395475-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44395475
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44395475
    reference: chr 22
allele count: 1
allele frequency: 8.280887711162637e-6
allele num: 120760
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188677
  ensembl protein: ENSP00000384515
  ensembl transcript: ENST00000406477
  gene symbol: PARVB
  hgvsc: ENST00000406477.3:c.133A>T
  hgvsp: ENSP00000384515.3:p.Met45Leu
  variant of: http://identifiers.org/hgnc/14653
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+9189A>T
  variant of: http://identifiers.org/hgnc/24276
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3544
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3256
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5003
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4000
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5224
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7416
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3728
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3064
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3891
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3843
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2740
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5653
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2195
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1271
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1525
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1940
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38381
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9553
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2067
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3404
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Met45Leu
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

22-44395476-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44395476
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44395476
    reference: chr 22
allele count: 1
allele frequency: 8.280887711162637e-6
allele num: 120760
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+9190T>C
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188677
  ensembl protein: ENSP00000384515
  ensembl transcript: ENST00000406477
  gene symbol: PARVB
  hgvsc: ENST00000406477.3:c.134T>C
  hgvsp: ENSP00000384515.3:p.Met45Thr
  variant of: http://identifiers.org/hgnc/14653
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1832
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3256
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5225
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3891
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5003
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4001
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7416
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3544
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3063
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3729
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5647
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2740
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3842
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9533
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1271
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2067
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2194
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1524
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3393
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38381
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1940
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Met45Thr
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9802
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum

22-44395481-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44395481
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44395481
    reference: chr 22
allele count: 1
allele frequency: 8.28225940036442e-6
allele num: 120740
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188677
  ensembl protein: ENSP00000384515
  ensembl transcript: ENST00000406477
  gene symbol: PARVB
  hgvsc: ENST00000406477.3:c.139T>A
  hgvsp: ENSP00000384515.3:p.Ser47Thr
  variant of: http://identifiers.org/hgnc/14653
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+9195T>A
  variant of: http://identifiers.org/hgnc/24276
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5005
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3323
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5641
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3064
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2322
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3253
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5228
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3727
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3547
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2741
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4001
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3840
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3891
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1832
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7418
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2194
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38368
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1523
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2067
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3394
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1939
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9562
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1269
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser47Thr
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.498666187093487e-5
  allele num: 66726
  num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

22-44395482-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44395482
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44395482
    reference: chr 22
allele count: 69
allele frequency: 5.767205496397586e-4
allele num: 119642
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188677
  ensembl protein: ENSP00000384515
  ensembl transcript: ENST00000406477
  gene symbol: PARVB
  hgvsc: ENST00000406477.3:c.140C>T
  hgvsp: ENSP00000384515.3:p.Ser47Phe
  variant of: http://identifiers.org/hgnc/14653
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+9196C>T
  variant of: http://identifiers.org/hgnc/24276
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5206
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5062
  bin: 9.75e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 2755
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4004
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3227
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2324
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5608
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3311
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3738
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3836
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3520
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7380
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3907
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2168
  bin: 7.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 9516
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1508
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3373
  bin: 6.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 37649
  bin: 9.75e1
  variant carriers: 39
genotype quality: GenotypeQuality
  all individuals: 1897
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2035
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1248
  bin: 8.75e1
  variant carriers: 1
hgvs: p.Ser47Phe
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 17
  allele frequency: 2.574977279612239e-4
  allele num: 66020
  num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

22-44395485-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44395485
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44395485
    reference: chr 22
allele count: 1
allele frequency: 8.285827919925758e-6
allele num: 120688
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+9199T>C
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188677
  ensembl protein: ENSP00000384515
  ensembl transcript: ENST00000406477
  gene symbol: PARVB
  hgvsc: ENST00000406477.3:c.143T>C
  hgvsp: ENSP00000384515.3:p.Leu48Pro
  variant of: http://identifiers.org/hgnc/14653
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5658
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3875
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3084
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3752
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5219
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2314
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3582
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3289
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4717
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3370
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3938
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7414
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4039
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2756
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2064
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1514
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1267
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1922
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38344
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9581
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2194
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3402
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu48Pro
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11574
  num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

22-44395486-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44395486
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44395486
    reference: chr 22
allele count: 4
allele frequency: 3.314386092835955e-5
allele num: 120686
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+9200G>A
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188677
  ensembl protein: ENSP00000384515
  ensembl transcript: ENST00000406477
  gene symbol: PARVB
  hgvsc: ENST00000406477.3:c.144G>A
  hgvsp: ENST00000406477.3:c.144G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14653
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3370
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5222
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3288
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4039
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3752
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3876
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7416
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2756
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3084
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3580
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5655
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3938
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4718
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2314
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2193
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1922
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2064
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1513
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1267
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3402
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9580
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38344
  bin: 9.75e1
  variant carriers: 4
hgvs: p.Leu48Leu
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 900
  num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

22-44395487-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44395487
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44395487
    reference: chr 22
allele count: 1
allele frequency: 8.285553309249991e-6
allele num: 120692
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100347
  ensembl transcript: ENST00000465768
  gene symbol: SAMM50
  hgvsc: ENST00000465768.1:n.79+9201G>T
  variant of: http://identifiers.org/hgnc/24276
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188677
  ensembl protein: ENSP00000384515
  ensembl transcript: ENST00000406477
  gene symbol: PARVB
  hgvsc: ENST00000406477.3:c.145G>T
  hgvsp: ENSP00000384515.3:p.Ala49Ser
  variant of: http://identifiers.org/hgnc/14653
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4039
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3877
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5224
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5656
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4714
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3580
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7415
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3938
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3371
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala49Ser
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 730
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 700
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1113
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 651
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 484
bin: 7.25e1
variant carriers: 0

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

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

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

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

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.966e1

VQSLOD
type: SiteQuality
SIO_000300: -2.092e0

FS
type: SiteQuality
SIO_000300: 1.5745e1

MQRankSum
type: SiteQuality
SIO_000300: 1.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.436e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.172e0

QD
type: SiteQuality
SIO_000300: 1.351e1

DP
type: SiteQuality
SIO_000300: 8.945748e6

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

GenotypeQuality
all individuals: 700
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 651
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1115
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 55822
bin: 9.75e1
variant carriers: 2

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

East Asian
type: Population
allele count: 2
allele frequency: 2.31107002542177e-4
allele num: 8654
num of homozygotes: 0

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

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 2.68e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.431e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.35e0

QD
type: SiteQuality
SIO_000300: 1.528e1

MQ
type: SiteQuality
SIO_000300: 5.951e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.869999999999999e0

FS
type: SiteQuality
SIO_000300: 2.868e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 8.945604e6

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

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

GenotypeQuality
all individuals: 699
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 731
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 464
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -6.4e-2

QD
type: SiteQuality
SIO_000300: 1.319e1

FS
type: SiteQuality
SIO_000300: 4.712e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -8.65e-1

DP
type: SiteQuality
SIO_000300: 8.945311e6

VQSLOD
type: SiteQuality
SIO_000300: 6.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.901e0

MQ
type: SiteQuality
SIO_000300: 5.926e1

GenotypeQuality
all individuals: 729
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 55822
bin: 9.75e1
variant carriers: 1

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

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

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

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 6.56e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.985e0

FS
type: SiteQuality
SIO_000300: 2.559e0

DP
type: SiteQuality
SIO_000300: 8.945214e6

QD
type: SiteQuality
SIO_000300: 1.118e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

MQ
type: SiteQuality
SIO_000300: 5.923e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.77e-1

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

GenotypeQuality
all individuals: 651
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55822
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 464
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.59e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.499e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.4e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.22e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.468e-1

DP
type: SiteQuality
SIO_000300: 8.944956e6

QD
type: SiteQuality
SIO_000300: 1.329e1

MQ
type: SiteQuality
SIO_000300: 5.971e1

GenotypeQuality
all individuals: 55822
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 733
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 726
bin: 8.25e1
variant carriers: 0

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

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

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 1.663e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.42e0

MQRankSum
type: SiteQuality
SIO_000300: 4.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 9.75e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

QD
type: SiteQuality
SIO_000300: 1.307e1

MQ
type: SiteQuality
SIO_000300: 5.968e1

DP
type: SiteQuality
SIO_000300: 8.944745e6

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

GenotypeQuality
all individuals: 650
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55822
bin: 9.75e1
variant carriers: 2

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

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

East Asian
type: Population
allele count: 2
allele frequency: 2.31107002542177e-4
allele num: 8654
num of homozygotes: 0

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

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.42e0

MQRankSum
type: SiteQuality
SIO_000300: 4.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

FS
type: SiteQuality
SIO_000300: 1.663e0

DP
type: SiteQuality
SIO_000300: 8.944745e6

ClippingRankSum
type: SiteQuality
SIO_000300: 9.75e-1

QD
type: SiteQuality
SIO_000300: 1.307e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

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

GenotypeQuality
all individuals: 55822
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 731
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 695
bin: 7.75e1
variant carriers: 0

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

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

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

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.854e0

VQSLOD
type: SiteQuality
SIO_000300: -9.784e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.048e0

FS
type: SiteQuality
SIO_000300: 9.189e0

DP
type: SiteQuality
SIO_000300: 8.944437e6

MQ
type: SiteQuality
SIO_000300: 5.968e1

MQRankSum
type: SiteQuality
SIO_000300: -1.054e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e0

QD
type: SiteQuality
SIO_000300: 1.463e1

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

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

GenotypeQuality
all individuals: 462
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 692
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 729
bin: 6.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.04e0

QD
type: SiteQuality
SIO_000300: 1.519e1

DP
type: SiteQuality
SIO_000300: 8.943598e6

VQSLOD
type: SiteQuality
SIO_000300: -1.228e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.419e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.326e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

MQRankSum
type: SiteQuality
SIO_000300: 1.69e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.05e0

GenotypeQuality
all individuals: 20
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 55823
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 722
bin: 8.25e1
variant carriers: 0

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

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

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

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

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

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

African
type: Population
allele count: 3
allele frequency: 2.882952142994427e-4
allele num: 10406
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.988e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.63e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e0

DP
type: SiteQuality
SIO_000300: 8.943508e6

QD
type: SiteQuality
SIO_000300: 1.408e1

MQRankSum
type: SiteQuality
SIO_000300: 3.13e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.94e-1

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1012
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 694
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55822
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 462
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 8.943179e6

FS
type: SiteQuality
SIO_000300: 8.316000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.46e-1

MQ
type: SiteQuality
SIO_000300: 5.952e1

MQRankSum
type: SiteQuality
SIO_000300: -3.51e-1

QD
type: SiteQuality
SIO_000300: 1.354e1

VQSLOD
type: SiteQuality
SIO_000300: 1.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.163e0

GenotypeQuality
all individuals: 40
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55826
bin: 9.75e1
variant carriers: 93

GenotypeQuality
all individuals: 35
bin: 4.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 15
allele frequency: 9.085402786190188e-4
allele num: 16510
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: 79
allele frequency: 9.128726600415993e-3
allele num: 8654
num of homozygotes: 1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -6.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.14e-2

MQ
type: SiteQuality
SIO_000300: 5.972e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.7e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.199999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.93e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.75e0

DP
type: SiteQuality
SIO_000300: 8.942164e6

QD
type: SiteQuality
SIO_000300: 1.588e1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 424
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4728
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28474
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2730
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3788
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3506
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.21e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.56e-2

DP
type: SiteQuality
SIO_000300: 7.76788e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.58e0

QD
type: SiteQuality
SIO_000300: 1.786e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.589e0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3814
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2736
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28588
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.801120448179272e-4
allele num: 3570
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8914
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 434
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.45e-1

FS
type: SiteQuality
SIO_000300: 1.979e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.74e-1

QD
type: SiteQuality
SIO_000300: 1.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.49e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.82e-1

DP
type: SiteQuality
SIO_000300: 7.78012e5

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4828
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3852
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8996
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28974
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2786
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3586
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.67e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.71e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.134e0

MQRankSum
type: SiteQuality
SIO_000300: 1.18e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.666e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.666e0

DP
type: SiteQuality
SIO_000300: 8.00517e5

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2878
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3682
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4928
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3906
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9120
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.589e0

DP
type: SiteQuality
SIO_000300: 8.24299e5

MQRankSum
type: SiteQuality
SIO_000300: -3.8e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.17e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.049e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

QD
type: SiteQuality
SIO_000300: 7.82e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.87e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4134
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4046
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9598
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.889644746787604e-4
allele num: 5292
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32138
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 492
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.52e-1

FS
type: SiteQuality
SIO_000300: 4.228e0

DP
type: SiteQuality
SIO_000300: 9.14423e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.161e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.15e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.54e-1

QD
type: SiteQuality
SIO_000300: 1.672e1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4192
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.36630383341221e-4
allele num: 4226
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5362
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33066
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.08e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -7.758e-1

QD
type: SiteQuality
SIO_000300: 6.86e0

DP
type: SiteQuality
SIO_000300: 9.28967e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.85e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.631e0

Other
type: Population
allele count: 1
allele frequency: 1.845018450184502e-3
allele num: 542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 26
allele frequency: 7.17162244166161e-4
allele num: 36254
num of homozygotes: 0

Latino
type: Population
allele count: 17
allele frequency: 4.13625304136253e-3
allele num: 4110
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4650
num of homozygotes: 0

African
type: Population
allele count: 49
allele frequency: 8.486317977138898e-3
allele num: 5774
num of homozygotes: 1

South Asian
type: Population
allele count: 18
allele frequency: 1.750972762645914e-3
allele num: 10280
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

DP
type: SiteQuality
SIO_000300: 9.91463e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.21e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.9e-2

QD
type: SiteQuality
SIO_000300: 1.309e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.29e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4710
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 582
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.08073241781107e-4
allele num: 4806
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6212
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39722
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5130
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.1e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.6e-1

FS
type: SiteQuality
SIO_000300: 4.022e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.35e0

DP
type: SiteQuality
SIO_000300: 1.049125e6

QD
type: SiteQuality
SIO_000300: 1.311e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.359714946434471e-5
allele num: 42378
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4872
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 616
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5414
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11132
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6534
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.08e-1

MQ
type: SiteQuality
SIO_000300: 5.849e1

VQSLOD
type: SiteQuality
SIO_000300: -2.028e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.54e-1

QD
type: SiteQuality
SIO_000300: 6.53e0

FS
type: SiteQuality
SIO_000300: 1.333e0

DP
type: SiteQuality
SIO_000300: 1.091438e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.62e-1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42750
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5498
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 3.045066991473812e-4
allele num: 6568
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4896
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11162
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.83e-1

QD
type: SiteQuality
SIO_000300: 1.359e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.133e0

FS
type: SiteQuality
SIO_000300: 7.238e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

MQ
type: SiteQuality
SIO_000300: 5.922e1

DP
type: SiteQuality
SIO_000300: 1.09698e6

VQSLOD
type: SiteQuality
SIO_000300: 6.73e-1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5540
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5602
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11194
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43058
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 618
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.47e-1

QD
type: SiteQuality
SIO_000300: 1.355e1

FS
type: SiteQuality
SIO_000300: 1.1307e1

MQRankSum
type: SiteQuality
SIO_000300: 3.15e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

DP
type: SiteQuality
SIO_000300: 1.10195e6

VQSLOD
type: SiteQuality
SIO_000300: -9.717e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.017e0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5288
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48222
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7216
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.602564102564103e-4
allele num: 6240
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6852
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12004
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.01e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.66e-1

DP
type: SiteQuality
SIO_000300: 1.175201e6

FS
type: SiteQuality
SIO_000300: 1.477e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.47e0

VQSLOD
type: SiteQuality
SIO_000300: 3.9e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6858
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5282
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.073742275310025e-5
allele num: 48222
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 664
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7208
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12040
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -5.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

VQSLOD
type: SiteQuality
SIO_000300: -9.003e-1

DP
type: SiteQuality
SIO_000300: 1.171938e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.804e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 6.74e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7108
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6350
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5374
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 676
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.370238421485339e-4
allele num: 7298
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49126
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.86e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.23e-1

DP
type: SiteQuality
SIO_000300: 1.173706e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -6.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

QD
type: SiteQuality
SIO_000300: 9.69e0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5414
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 686
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7228
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12324
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6416
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.021345407503234e-5
allele num: 49472
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.3e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.76e-1

DP
type: SiteQuality
SIO_000300: 1.171633e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -6.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

QD
type: SiteQuality
SIO_000300: 1.442e1

VQSLOD
type: SiteQuality
SIO_000300: 5.18e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5414
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 686
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7228
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6416
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7356
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.042690815006469e-5
allele num: 49472
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.67e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

FS
type: SiteQuality
SIO_000300: 2.3e0

QD
type: SiteQuality
SIO_000300: 1.442e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.171633e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

South Asian
type: Population
allele count: 12
allele frequency: 9.722897423432182e-4
allele num: 12342
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7380
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6408
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5422
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49616
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.380834023750345e-4
allele num: 7242
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.62e-1

QD
type: SiteQuality
SIO_000300: 9.41e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.15e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.49e-1

FS
type: SiteQuality
SIO_000300: 1.107e0

DP
type: SiteQuality
SIO_000300: 1.17025e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.15e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7418
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6434
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7254
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12396
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5436
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 6.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.32e-1

DP
type: SiteQuality
SIO_000300: 1.164813e6

FS
type: SiteQuality
SIO_000300: 2.022e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

QD
type: SiteQuality
SIO_000300: 1.318e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.84e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.65e0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.99314358606394e-4
allele num: 50172
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7310
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7480
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12502
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5510
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6458
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e-2

FS
type: SiteQuality
SIO_000300: 1.759e0

MQRankSum
type: SiteQuality
SIO_000300: -3.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.506e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.115e1

DP
type: SiteQuality
SIO_000300: 1.161814e6

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.54e-1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12584
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.668801708033093e-4
allele num: 7494
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50250
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.360914534567229e-4
allele num: 7348
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.3e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.09e-2

QD
type: SiteQuality
SIO_000300: 1.084e1

FS
type: SiteQuality
SIO_000300: 1.148e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.7e-1

DP
type: SiteQuality
SIO_000300: 1.159542e6

South Asian
type: Population
allele count: 114
allele frequency: 9.059122695486331e-3
allele num: 12584
num of homozygotes: 3

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7494
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 9.526401741970605e-4
allele num: 7348
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.791044776119403e-4
allele num: 50250
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.445086705202312e-3
allele num: 692
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.09e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.5e-2

FS
type: SiteQuality
SIO_000300: 1.148e0

DP
type: SiteQuality
SIO_000300: 1.159542e6

QD
type: SiteQuality
SIO_000300: 1.084e1

VQSLOD
type: SiteQuality
SIO_000300: 3.3e0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12844
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50900
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.792114695340502e-4
allele num: 5580
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7400
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6472
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.679999999999999e-1

FS
type: SiteQuality
SIO_000300: 5.891e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.586e0

QD
type: SiteQuality
SIO_000300: 1.036e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

DP
type: SiteQuality
SIO_000300: 1.143425e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12902
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5584
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7642
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7454
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51022
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 7.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.53e0

DP
type: SiteQuality
SIO_000300: 1.141348e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.78e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.913e0

FS
type: SiteQuality
SIO_000300: 2.046e0

MQRankSum
type: SiteQuality
SIO_000300: 1.71e0

QD
type: SiteQuality
SIO_000300: 2.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7660
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5616
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 710
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7480
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.958556935250108e-5
allele num: 51058
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12940
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.1e0

DP
type: SiteQuality
SIO_000300: 1.142414e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e-1

FS
type: SiteQuality
SIO_000300: 1.107e0

QD
type: SiteQuality
SIO_000300: 1.717e1

MQRankSum
type: SiteQuality
SIO_000300: 1.25e0

VQSLOD
type: SiteQuality
SIO_000300: -5.039e-1

MQ
type: SiteQuality
SIO_000300: 5.925e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

East Asian
type: Population
allele count: 1
allele frequency: 1.536098310291859e-4
allele num: 6510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7680
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5668
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7554
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13102
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -8.771e-1

QD
type: SiteQuality
SIO_000300: 6.24e0

MQRankSum
type: SiteQuality
SIO_000300: -6.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.39e0

DP
type: SiteQuality
SIO_000300: 1.148496e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.1e-2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7690
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.630093087135663e-5
allele num: 13106
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5648
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.658160552897395e-4
allele num: 7524
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.839075090505664e-5
allele num: 51378
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 708
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.21e-1

FS
type: SiteQuality
SIO_000300: 1.726e0

QD
type: SiteQuality
SIO_000300: 1.271e1

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-1

DP
type: SiteQuality
SIO_000300: 1.150987e6

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7576
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6520
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13224
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.29366106080207e-4
allele num: 7730
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51712
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -7.53e-1

FS
type: SiteQuality
SIO_000300: 1.68e0

VQSLOD
type: SiteQuality
SIO_000300: 1.12e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.53e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.94e0

DP
type: SiteQuality
SIO_000300: 1.155289e6

MQRankSum
type: SiteQuality
SIO_000300: -1.16e-1

QD
type: SiteQuality
SIO_000300: 1.298e1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 714
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7750
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13258
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.927525057825752e-5
allele num: 51880
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5722
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.377e0

DP
type: SiteQuality
SIO_000300: 1.158021e6

MQ
type: SiteQuality
SIO_000300: 5.945e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

QD
type: SiteQuality
SIO_000300: 1.47e1

MQRankSum
type: SiteQuality
SIO_000300: -4.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.51e-1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51992
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7786
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7618
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5742
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.881e0

VQSLOD
type: SiteQuality
SIO_000300: -2.751e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.87e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.87e-1

DP
type: SiteQuality
SIO_000300: 1.165205e6

FS
type: SiteQuality
SIO_000300: 7.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.87e-1

QD
type: SiteQuality
SIO_000300: 8.050000000000001e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5898
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.50501002004008e-4
allele num: 7984
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 736
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13804
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6632
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7920
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.72e-1

DP
type: SiteQuality
SIO_000300: 1.207999e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.699999999999999e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.57e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.56e0

QD
type: SiteQuality
SIO_000300: 1.405e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.594e0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53272
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.448855404230658e-4
allele num: 13804
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6632
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.358695652173913e-3
allele num: 736
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7920
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5898
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.699999999999999e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.57e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.594e0

QD
type: SiteQuality
SIO_000300: 1.405e1

VQSLOD
type: SiteQuality
SIO_000300: 5.56e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.72e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.2e-1

DP
type: SiteQuality
SIO_000300: 1.207999e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8154
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5996
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54164
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.13063320022818e-5
allele num: 14024
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6756
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8122
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.235455e6

VQSLOD
type: SiteQuality
SIO_000300: -3.039e0

QD
type: SiteQuality
SIO_000300: 2.15e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.92e0

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.84e-1

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 2.028023598820059e-4
allele num: 54240
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.45398773006135e-4
allele num: 8150
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5998
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6762
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8126
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.03e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.181e0

DP
type: SiteQuality
SIO_000300: 1.241847e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.75e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.95e-1

FS
type: SiteQuality
SIO_000300: 3.226e0

QD
type: SiteQuality
SIO_000300: 1.348e1

Latino
type: Population
allele count: 1
allele frequency: 1.212121212121212e-4
allele num: 8250
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54564
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6020
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14140
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 742
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

VQSLOD
type: SiteQuality
SIO_000300: 4.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.66e-1

QD
type: SiteQuality
SIO_000300: 1.519e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.22e-1

FS
type: SiteQuality
SIO_000300: 4.695e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

DP
type: SiteQuality
SIO_000300: 1.248671e6

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54564
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8174
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14140
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: 1
allele frequency: 1.212121212121212e-4
allele num: 8250
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 4.2e-1

DP
type: SiteQuality
SIO_000300: 1.248671e6

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.22e-1

FS
type: SiteQuality
SIO_000300: 4.695e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

QD
type: SiteQuality
SIO_000300: 1.519e1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16448
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64728
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.039284971939306e-4
allele num: 9622
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8058
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11262
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.083e0

MQRankSum
type: SiteQuality
SIO_000300: -2.546e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.639e0

VQSLOD
type: SiteQuality
SIO_000300: -2.302e0

MQ
type: SiteQuality
SIO_000300: 5.385e1

QD
type: SiteQuality
SIO_000300: 9.5e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

DP
type: SiteQuality
SIO_000300: 2.00427e6

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8070
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11272
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64820
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.038637307852098e-4
allele num: 9628
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.798e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.01e0

MQRankSum
type: SiteQuality
SIO_000300: -3.32e0

QD
type: SiteQuality
SIO_000300: 8.6e0

DP
type: SiteQuality
SIO_000300: 2.007144e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -4.044e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.977e0

MQ
type: SiteQuality
SIO_000300: 5.208e1

African
type: Population
allele count: 1
allele frequency: 1.038637307852098e-4
allele num: 9628
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11264
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16450
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8070
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.210000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: -3.666e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.031e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.367e0

DP
type: SiteQuality
SIO_000300: 2.009719e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.198e0

MQ
type: SiteQuality
SIO_000300: 5.245e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.749e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11266
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16448
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9630
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.08289915836853e-5
allele num: 64874
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8088
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.183e0

FS
type: SiteQuality
SIO_000300: 2.995e0

DP
type: SiteQuality
SIO_000300: 2.025021e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.2e-1

MQ
type: SiteQuality
SIO_000300: 5.911e1

VQSLOD
type: SiteQuality
SIO_000300: 5.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

QD
type: SiteQuality
SIO_000300: 1.174e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.67e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11284
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.087168249330411e-5
allele num: 16428
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9630
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8098
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64930
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

QD
type: SiteQuality
SIO_000300: 2.997e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.043353e6

MQ
type: SiteQuality
SIO_000300: 5.949e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.3e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.42e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.309e0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16420
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.868393047179851e-5
allele num: 11276
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8108
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9628
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.5e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.132e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.67e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 3.37e1

VQSLOD
type: SiteQuality
SIO_000300: -1.641e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

DP
type: SiteQuality
SIO_000300: 2.050797e6

African
type: Population
allele count: 2
allele frequency: 2.074258452603194e-4
allele num: 9642
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8114
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11302
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.538130248869474e-5
allele num: 65014
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.5e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

QD
type: SiteQuality
SIO_000300: 1.351e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.5e0

MQ
type: SiteQuality
SIO_000300: 5.939e1

VQSLOD
type: SiteQuality
SIO_000300: 1.9e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.9e-2

DP
type: SiteQuality
SIO_000300: 2.057516e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

European (Finnish)
type: Population
allele count: 3087
allele frequency: 4.687215305192833e-1
allele num: 6586
num of homozygotes: 729

South Asian
type: Population
allele count: 7762
allele frequency: 4.707666181465308e-1
allele num: 16488
num of homozygotes: 1850

European (Non-Finnish)
type: Population
allele count: 26512
allele frequency: 4.01709142701294e-1
allele num: 65998
num of homozygotes: 5369

Latino
type: Population
allele count: 5046
allele frequency: 4.423211781206171e-1
allele num: 11408
num of homozygotes: 1135

Other
type: Population
allele count: 413
allele frequency: 4.619686800894854e-1
allele num: 894
num of homozygotes: 87

African
type: Population
allele count: 5973
allele frequency: 6.137484586929717e-1
allele num: 9732
num of homozygotes: 1832

ClippingRankSum
type: SiteQuality
SIO_000300: -7.9e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.51e0

DP
type: SiteQuality
SIO_000300: 2.654068e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.51e0

QD
type: SiteQuality
SIO_000300: 2.175e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.42e-2

MQ
type: SiteQuality
SIO_000300: 5.964e1

Latino
type: Population
allele count: 1
allele frequency: 8.662508662508663e-5
allele num: 11544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66598
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9790
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.45e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.5e-1

DP
type: SiteQuality
SIO_000300: 2.668357e6

MQ
type: SiteQuality
SIO_000300: 5.948e1

VQSLOD
type: SiteQuality
SIO_000300: -1.322e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.88e0

QD
type: SiteQuality
SIO_000300: 1.836e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.671257e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.62e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.601e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

QD
type: SiteQuality
SIO_000300: 1.187e1

MQRankSum
type: SiteQuality
SIO_000300: -4.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.67e-1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.54e-1

DP
type: SiteQuality
SIO_000300: 2.672688e6

FS
type: SiteQuality
SIO_000300: 2.154e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.66e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.523e0

QD
type: SiteQuality
SIO_000300: 1.644e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.7e-3

MQ
type: SiteQuality
SIO_000300: 5.951e1

MQRankSum
type: SiteQuality
SIO_000300: -1.6e-2

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

African
type: Population
allele count: 1
allele frequency: 1.020408163265306e-4
allele num: 9800
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 2.672848e6

MQRankSum
type: SiteQuality
SIO_000300: -2.002e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.87e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.331e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.9e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.554e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.28e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997332374186974e-5
allele num: 66726
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.58e0

DP
type: SiteQuality
SIO_000300: 2.673539e6

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-1

QD
type: SiteQuality
SIO_000300: 1.491e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.751e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.924e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e-1

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

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

African
type: Population
allele count: 18
allele frequency: 1.836359926545603e-3
allele num: 9802
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66732
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: 900
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.393e0

MQRankSum
type: SiteQuality
SIO_000300: 8.999999999999999e-3

DP
type: SiteQuality
SIO_000300: 2.674477e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.49e-1

QD
type: SiteQuality
SIO_000300: 1.409e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.72e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

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

African
type: Population
allele count: 1
allele frequency: 1.020199959192002e-4
allele num: 9802
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 2.674686e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.3e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.405e0

VQSLOD
type: SiteQuality
SIO_000300: -9.71e-1

FS
type: SiteQuality
SIO_000300: 1.248e0

MQ
type: SiteQuality
SIO_000300: 5.839e1

QD
type: SiteQuality
SIO_000300: 1.734e1

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

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

Latino
type: Population
allele count: 6
allele frequency: 5.184033177812338e-4
allele num: 11574
num of homozygotes: 0

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

South Asian
type: Population
allele count: 4
allele frequency: 2.422480620155039e-4
allele num: 16512
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.959e1

DP
type: SiteQuality
SIO_000300: 2.681478e6

FS
type: SiteQuality
SIO_000300: 8.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -8.999999999999999e-3

QD
type: SiteQuality
SIO_000300: 1.516e1

VQSLOD
type: SiteQuality
SIO_000300: 3.68e0

MQRankSum
type: SiteQuality
SIO_000300: 2.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.78e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.928e1

MQRankSum
type: SiteQuality
SIO_000300: 3.97e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.31e-1

FS
type: SiteQuality
SIO_000300: 1.007e0

VQSLOD
type: SiteQuality
SIO_000300: -3.327e0

DP
type: SiteQuality
SIO_000300: 2.681684e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 3.24e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.319e0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.395e0

FS
type: SiteQuality
SIO_000300: 1.46e0

DP
type: SiteQuality
SIO_000300: 2.681884e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e0

MQRankSum
type: SiteQuality
SIO_000300: 4.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

MQ
type: SiteQuality
SIO_000300: 5.89e1

QD
type: SiteQuality
SIO_000300: 2.645e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.34e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.742e0

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

African
type: Population
allele count: 1
allele frequency: 1.020199959192002e-4
allele num: 9802
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.89e-1

DP
type: SiteQuality
SIO_000300: 2.682018e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.34e-1

MQ
type: SiteQuality
SIO_000300: 5.837e1

MQRankSum
type: SiteQuality
SIO_000300: -3.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.185e0

VQSLOD
type: SiteQuality
SIO_000300: -1.83e0

QD
type: SiteQuality
SIO_000300: 2.359e1

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

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.854e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.88e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

QD
type: SiteQuality
SIO_000300: 1.182e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.682092e6

South Asian
type: Population
allele count: 7800
allele frequency: 4.723837209302326e-1
allele num: 16512
num of homozygotes: 1870

East Asian
type: Population
allele count: 4230
allele frequency: 4.919748778785764e-1
allele num: 8598
num of homozygotes: 1034

African
type: Population
allele count: 6179
allele frequency: 6.303815547847378e-1
allele num: 9802
num of homozygotes: 1951

European (Finnish)
type: Population
allele count: 3098
allele frequency: 4.685420447670902e-1
allele num: 6612
num of homozygotes: 734

European (Non-Finnish)
type: Population
allele count: 26655
allele frequency: 3.994096140014385e-1
allele num: 66736
num of homozygotes: 5418

Latino
type: Population
allele count: 5103
allele frequency: 4.409782232976149e-1
allele num: 11572
num of homozygotes: 1160

ClippingRankSum
type: SiteQuality
SIO_000300: -3.0e-3

DP
type: SiteQuality
SIO_000300: 5.758736e6

MQ
type: SiteQuality
SIO_000300: 5.959e1

MQRankSum
type: SiteQuality
SIO_000300: 9.2e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.52e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.83e-2

QD
type: SiteQuality
SIO_000300: 2.052e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.43e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.19871737241152e-4
allele num: 66738
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.963e1

FS
type: SiteQuality
SIO_000300: 7.73e-1

QD
type: SiteQuality
SIO_000300: 1.464e1

DP
type: SiteQuality
SIO_000300: 3.334124e6

VQSLOD
type: SiteQuality
SIO_000300: 3.94e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.79e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.643e0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.257e0

VQSLOD
type: SiteQuality
SIO_000300: -7.698e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

DP
type: SiteQuality
SIO_000300: 3.333592e6

MQRankSum
type: SiteQuality
SIO_000300: -2.54e-1

QD
type: SiteQuality
SIO_000300: 1.796e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.112e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.732e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 9.960000000000001e0

DP
type: SiteQuality
SIO_000300: 3.333269e6

VQSLOD
type: SiteQuality
SIO_000300: -1.024e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.74e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.96e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.568e0

QD
type: SiteQuality
SIO_000300: 1.905e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

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

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

FS
type: SiteQuality
SIO_000300: 1.803e0

DP
type: SiteQuality
SIO_000300: 3.333118e6

VQSLOD
type: SiteQuality
SIO_000300: -1.356e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.83e0

MQRankSum
type: SiteQuality
SIO_000300: -9.82e-1

MQ
type: SiteQuality
SIO_000300: 5.928e1

QD
type: SiteQuality
SIO_000300: 9.390000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.3e0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -7.98e-1

DP
type: SiteQuality
SIO_000300: 3.333375e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.196e0

VQSLOD
type: SiteQuality
SIO_000300: 6.49e-1

FS
type: SiteQuality
SIO_000300: 1.696e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.23e-1

MQ
type: SiteQuality
SIO_000300: 5.939e1

QD
type: SiteQuality
SIO_000300: 1.325e1

East Asian
type: Population
allele count: 3
allele frequency: 3.486750348675035e-4
allele num: 8604
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.267573696145125e-3
allele num: 882
num of homozygotes: 0

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

African
type: Population
allele count: 3
allele frequency: 3.107520198881293e-4
allele num: 9654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 44
allele frequency: 6.845052893590542e-3
allele num: 6428
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.589e0

DP
type: SiteQuality
SIO_000300: 3.338536e6

QD
type: SiteQuality
SIO_000300: 7.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.343e0

FS
type: SiteQuality
SIO_000300: 1.78537e2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.818e0

VQSLOD
type: SiteQuality
SIO_000300: -1.525e2

MQ
type: SiteQuality
SIO_000300: 5.719e1

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.307005e6

MQRankSum
type: SiteQuality
SIO_000300: 1.54e-1

FS
type: SiteQuality
SIO_000300: 1.265e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.09e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.206e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.076e1

MQ
type: SiteQuality
SIO_000300: 5.96e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.783e0

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.997361161089121e-5
allele num: 66696
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.25e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.620000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

DP
type: SiteQuality
SIO_000300: 3.307253e6

FS
type: SiteQuality
SIO_000300: 1.756e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.273e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.153e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.73e-1