4-982738-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 982738
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 982738
    reference: chr 4
allele count: 2
allele frequency: 3.648969166210545e-5
allele num: 54810
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000354721
  ensembl transcript: ENST00000361661
  gene symbol: SLC26A1
  hgvsc: ENST00000361661.2:c.1989C>T
  hgvsp: ENST00000361661.2:c.1989C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381528
  ensembl transcript: ENST00000398516
  gene symbol: SLC26A1
  hgvsc: ENST00000398516.2:c.1989C>T
  hgvsp: ENST00000398516.2:c.1989C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000422952
  ensembl transcript: ENST00000502910
  gene symbol: IDUA
  hgvsc: ENST00000502910.1:c.158+1708G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381532
  ensembl transcript: ENST00000398520
  gene symbol: SLC26A1
  hgvsc: ENST00000398520.2:c.576+2178C>T
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000509744
  gene symbol: IDUA
  hgvsc: ENST00000509744.1:n.36-281G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000424847
  ensembl transcript: ENST00000504568
  gene symbol: IDUA
  hgvsc: ENST00000504568.1:c.259+1039G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000506561
  gene symbol: IDUA
  hgvsc: ENST00000506561.1:n.308+1001G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000514698
  gene symbol: IDUA
  hgvsc: ENST00000514698.1:n.199+1708G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000396458
  ensembl transcript: ENST00000453894
  gene symbol: IDUA
  hgvsc: ENST00000453894.1:c.158+1708G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000508168
  gene symbol: IDUA
  hgvsc: ENST00000508168.1:n.177+1708G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000247933
  ensembl transcript: ENST00000247933
  gene symbol: IDUA
  hgvsc: ENST00000247933.4:c.299+1001G>A
  variant of: http://identifiers.org/hgnc/5391
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2727
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27481
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7963
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13739
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4543
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2879
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1214
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu663Leu
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

4-982744-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 982744
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 982744
    reference: chr 4
allele count: 1
allele frequency: 1.84304618673744e-5
allele num: 54258
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000508168
  gene symbol: IDUA
  hgvsc: ENST00000508168.1:n.177+1714G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000354721
  ensembl transcript: ENST00000361661
  gene symbol: SLC26A1
  hgvsc: ENST00000361661.2:c.1983C>T
  hgvsp: ENST00000361661.2:c.1983C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000514698
  gene symbol: IDUA
  hgvsc: ENST00000514698.1:n.199+1714G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000422952
  ensembl transcript: ENST00000502910
  gene symbol: IDUA
  hgvsc: ENST00000502910.1:c.158+1714G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000424847
  ensembl transcript: ENST00000504568
  gene symbol: IDUA
  hgvsc: ENST00000504568.1:c.259+1045G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381532
  ensembl transcript: ENST00000398520
  gene symbol: SLC26A1
  hgvsc: ENST00000398520.2:c.576+2172C>T
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000509744
  gene symbol: IDUA
  hgvsc: ENST00000509744.1:n.36-275G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000247933
  ensembl transcript: ENST00000247933
  gene symbol: IDUA
  hgvsc: ENST00000247933.4:c.299+1007G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381528
  ensembl transcript: ENST00000398516
  gene symbol: SLC26A1
  hgvsc: ENST00000398516.2:c.1983C>T
  hgvsp: ENST00000398516.2:c.1983C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000506561
  gene symbol: IDUA
  hgvsc: ENST00000506561.1:n.308+1007G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000396458
  ensembl transcript: ENST00000453894
  gene symbol: IDUA
  hgvsc: ENST00000453894.1:c.158+1714G>A
  variant of: http://identifiers.org/hgnc/5391
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2702
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4695
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2500
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8171
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27869
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13391
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly661Gly
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff

4-982746-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 982746
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 982746
    reference: chr 4
allele count: 6
allele frequency: 1.107910480833149e-4
allele num: 54156
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000247933
  ensembl transcript: ENST00000247933
  gene symbol: IDUA
  hgvsc: ENST00000247933.4:c.299+1009C>G
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381528
  ensembl transcript: ENST00000398516
  gene symbol: SLC26A1
  hgvsc: ENST00000398516.2:c.1981G>C
  hgvsp: ENSP00000381528.2:p.Gly661Arg
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000506561
  gene symbol: IDUA
  hgvsc: ENST00000506561.1:n.308+1009C>G
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000354721
  ensembl transcript: ENST00000361661
  gene symbol: SLC26A1
  hgvsc: ENST00000361661.2:c.1981G>C
  hgvsp: ENSP00000354721.2:p.Gly661Arg
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000396458
  ensembl transcript: ENST00000453894
  gene symbol: IDUA
  hgvsc: ENST00000453894.1:c.158+1716C>G
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000424847
  ensembl transcript: ENST00000504568
  gene symbol: IDUA
  hgvsc: ENST00000504568.1:c.259+1047C>G
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381532
  ensembl transcript: ENST00000398520
  gene symbol: SLC26A1
  hgvsc: ENST00000398520.2:c.576+2170G>C
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000514698
  gene symbol: IDUA
  hgvsc: ENST00000514698.1:n.199+1716C>G
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000509744
  gene symbol: IDUA
  hgvsc: ENST00000509744.1:n.36-273C>G
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000508168
  gene symbol: IDUA
  hgvsc: ENST00000508168.1:n.177+1716C>G
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000422952
  ensembl transcript: ENST00000502910
  gene symbol: IDUA
  hgvsc: ENST00000502910.1:c.158+1716C>G
  variant of: http://identifiers.org/hgnc/5391
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27990
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4704
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2396
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2713
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8248
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13276
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4978
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly661Arg
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

4-982746-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 982746
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 982746
    reference: chr 4
allele count: 1
allele frequency: 1.846517468055248e-5
allele num: 54156
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000509744
  gene symbol: IDUA
  hgvsc: ENST00000509744.1:n.36-273C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000514698
  gene symbol: IDUA
  hgvsc: ENST00000514698.1:n.199+1716C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381528
  ensembl transcript: ENST00000398516
  gene symbol: SLC26A1
  hgvsc: ENST00000398516.2:c.1981G>A
  hgvsp: ENSP00000381528.2:p.Gly661Ser
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000396458
  ensembl transcript: ENST00000453894
  gene symbol: IDUA
  hgvsc: ENST00000453894.1:c.158+1716C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000424847
  ensembl transcript: ENST00000504568
  gene symbol: IDUA
  hgvsc: ENST00000504568.1:c.259+1047C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000506561
  gene symbol: IDUA
  hgvsc: ENST00000506561.1:n.308+1009C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381532
  ensembl transcript: ENST00000398520
  gene symbol: SLC26A1
  hgvsc: ENST00000398520.2:c.576+2170G>A
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000354721
  ensembl transcript: ENST00000361661
  gene symbol: SLC26A1
  hgvsc: ENST00000361661.2:c.1981G>A
  hgvsp: ENSP00000354721.2:p.Gly661Ser
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000422952
  ensembl transcript: ENST00000502910
  gene symbol: IDUA
  hgvsc: ENST00000502910.1:c.158+1716C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000508168
  gene symbol: IDUA
  hgvsc: ENST00000508168.1:n.177+1716C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000247933
  ensembl transcript: ENST00000247933
  gene symbol: IDUA
  hgvsc: ENST00000247933.4:c.299+1009C>T
  variant of: http://identifiers.org/hgnc/5391
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2713
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2396
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4704
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13276
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8248
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27990
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly661Ser
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

4-982747-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 982747
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 982747
    reference: chr 4
allele count: 2
allele frequency: 3.686092373474879e-5
allele num: 54258
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000354721
  ensembl transcript: ENST00000361661
  gene symbol: SLC26A1
  hgvsc: ENST00000361661.2:c.1980A>C
  hgvsp: ENST00000361661.2:c.1980A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000424847
  ensembl transcript: ENST00000504568
  gene symbol: IDUA
  hgvsc: ENST00000504568.1:c.259+1048T>G
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000396458
  ensembl transcript: ENST00000453894
  gene symbol: IDUA
  hgvsc: ENST00000453894.1:c.158+1717T>G
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000506561
  gene symbol: IDUA
  hgvsc: ENST00000506561.1:n.308+1010T>G
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000422952
  ensembl transcript: ENST00000502910
  gene symbol: IDUA
  hgvsc: ENST00000502910.1:c.158+1717T>G
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000247933
  ensembl transcript: ENST00000247933
  gene symbol: IDUA
  hgvsc: ENST00000247933.4:c.299+1010T>G
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381528
  ensembl transcript: ENST00000398516
  gene symbol: SLC26A1
  hgvsc: ENST00000398516.2:c.1980A>C
  hgvsp: ENST00000398516.2:c.1980A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381532
  ensembl transcript: ENST00000398520
  gene symbol: SLC26A1
  hgvsc: ENST00000398520.2:c.576+2169A>C
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000514698
  gene symbol: IDUA
  hgvsc: ENST00000514698.1:n.199+1717T>G
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000509744
  gene symbol: IDUA
  hgvsc: ENST00000509744.1:n.36-272T>G
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000508168
  gene symbol: IDUA
  hgvsc: ENST00000508168.1:n.177+1717T>G
  variant of: http://identifiers.org/hgnc/5391
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28027
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4689
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8339
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13266
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2289
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly660Gly
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

4-982748-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 982748
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 982748
    reference: chr 4
allele count: 2
allele frequency: 3.695628071990835e-5
allele num: 54118
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000508168
  gene symbol: IDUA
  hgvsc: ENST00000508168.1:n.177+1718C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381528
  ensembl transcript: ENST00000398516
  gene symbol: SLC26A1
  hgvsc: ENST00000398516.2:c.1979G>A
  hgvsp: ENSP00000381528.2:p.Gly660Glu
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000247933
  ensembl transcript: ENST00000247933
  gene symbol: IDUA
  hgvsc: ENST00000247933.4:c.299+1011C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000506561
  gene symbol: IDUA
  hgvsc: ENST00000506561.1:n.308+1011C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000424847
  ensembl transcript: ENST00000504568
  gene symbol: IDUA
  hgvsc: ENST00000504568.1:c.259+1049C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000509744
  gene symbol: IDUA
  hgvsc: ENST00000509744.1:n.36-271C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000514698
  gene symbol: IDUA
  hgvsc: ENST00000514698.1:n.199+1718C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000354721
  ensembl transcript: ENST00000361661
  gene symbol: SLC26A1
  hgvsc: ENST00000361661.2:c.1979G>A
  hgvsp: ENSP00000354721.2:p.Gly660Glu
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000422952
  ensembl transcript: ENST00000502910
  gene symbol: IDUA
  hgvsc: ENST00000502910.1:c.158+1718C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000396458
  ensembl transcript: ENST00000453894
  gene symbol: IDUA
  hgvsc: ENST00000453894.1:c.158+1718C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381532
  ensembl transcript: ENST00000398520
  gene symbol: SLC26A1
  hgvsc: ENST00000398520.2:c.576+2168G>A
  variant of: http://identifiers.org/hgnc/10993
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4685
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13187
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8424
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28063
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2733
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly660Glu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum

4-982751-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 982751
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 982751
    reference: chr 4
allele count: 1
allele frequency: 1.856527550868855e-5
allele num: 53864
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000508168
  gene symbol: IDUA
  hgvsc: ENST00000508168.1:n.177+1721C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381532
  ensembl transcript: ENST00000398520
  gene symbol: SLC26A1
  hgvsc: ENST00000398520.2:c.576+2165G>A
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000422952
  ensembl transcript: ENST00000502910
  gene symbol: IDUA
  hgvsc: ENST00000502910.1:c.158+1721C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000247933
  ensembl transcript: ENST00000247933
  gene symbol: IDUA
  hgvsc: ENST00000247933.4:c.299+1014C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000509744
  gene symbol: IDUA
  hgvsc: ENST00000509744.1:n.36-268C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381528
  ensembl transcript: ENST00000398516
  gene symbol: SLC26A1
  hgvsc: ENST00000398516.2:c.1976G>A
  hgvsp: ENSP00000381528.2:p.Arg659Lys
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000424847
  ensembl transcript: ENST00000504568
  gene symbol: IDUA
  hgvsc: ENST00000504568.1:c.259+1052C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000396458
  ensembl transcript: ENST00000453894
  gene symbol: IDUA
  hgvsc: ENST00000453894.1:c.158+1721C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000514698
  gene symbol: IDUA
  hgvsc: ENST00000514698.1:n.199+1721C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000506561
  gene symbol: IDUA
  hgvsc: ENST00000506561.1:n.308+1014C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000354721
  ensembl transcript: ENST00000361661
  gene symbol: SLC26A1
  hgvsc: ENST00000361661.2:c.1976G>A
  hgvsp: ENSP00000354721.2:p.Arg659Lys
  variant of: http://identifiers.org/hgnc/10993
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8532
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2737
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13134
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4733
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28091
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1060
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg659Lys
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD

4-982756-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 982756
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 982756
    reference: chr 4
allele count: 1
allele frequency: 1.868250943466726e-5
allele num: 53526
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000422952
  ensembl transcript: ENST00000502910
  gene symbol: IDUA
  hgvsc: ENST00000502910.1:c.158+1726C>G
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000508168
  gene symbol: IDUA
  hgvsc: ENST00000508168.1:n.177+1726C>G
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381528
  ensembl transcript: ENST00000398516
  gene symbol: SLC26A1
  hgvsc: ENST00000398516.2:c.1971G>C
  hgvsp: ENST00000398516.2:c.1971G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000514698
  gene symbol: IDUA
  hgvsc: ENST00000514698.1:n.199+1726C>G
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000509744
  gene symbol: IDUA
  hgvsc: ENST00000509744.1:n.36-263C>G
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000506561
  gene symbol: IDUA
  hgvsc: ENST00000506561.1:n.308+1019C>G
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000354721
  ensembl transcript: ENST00000361661
  gene symbol: SLC26A1
  hgvsc: ENST00000361661.2:c.1971G>C
  hgvsp: ENST00000361661.2:c.1971G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000424847
  ensembl transcript: ENST00000504568
  gene symbol: IDUA
  hgvsc: ENST00000504568.1:c.259+1057C>G
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000247933
  ensembl transcript: ENST00000247933
  gene symbol: IDUA
  hgvsc: ENST00000247933.4:c.299+1019C>G
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000396458
  ensembl transcript: ENST00000453894
  gene symbol: IDUA
  hgvsc: ENST00000453894.1:c.158+1726C>G
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381532
  ensembl transcript: ENST00000398520
  gene symbol: SLC26A1
  hgvsc: ENST00000398520.2:c.576+2160G>C
  variant of: http://identifiers.org/hgnc/10993
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13159
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4922
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2751
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8475
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32910
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu657Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

4-982760-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 982760
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 982760
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 53532
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000247933
  ensembl transcript: ENST00000247933
  gene symbol: IDUA
  hgvsc: ENST00000247933.4:c.299+1023A>G
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000422952
  ensembl transcript: ENST00000502910
  gene symbol: IDUA
  hgvsc: ENST00000502910.1:c.158+1730A>G
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000354721
  ensembl transcript: ENST00000361661
  gene symbol: SLC26A1
  hgvsc: ENST00000361661.2:c.1967T>C
  hgvsp: ENSP00000354721.2:p.Ile656Thr
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381532
  ensembl transcript: ENST00000398520
  gene symbol: SLC26A1
  hgvsc: ENST00000398520.2:c.576+2156T>C
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000506561
  gene symbol: IDUA
  hgvsc: ENST00000506561.1:n.308+1023A>G
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000424847
  ensembl transcript: ENST00000504568
  gene symbol: IDUA
  hgvsc: ENST00000504568.1:c.259+1061A>G
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000396458
  ensembl transcript: ENST00000453894
  gene symbol: IDUA
  hgvsc: ENST00000453894.1:c.158+1730A>G
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381528
  ensembl transcript: ENST00000398516
  gene symbol: SLC26A1
  hgvsc: ENST00000398516.2:c.1967T>C
  hgvsp: ENSP00000381528.2:p.Ile656Thr
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000509744
  gene symbol: IDUA
  hgvsc: ENST00000509744.1:n.36-259A>G
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000508168
  gene symbol: IDUA
  hgvsc: ENST00000508168.1:n.177+1730A>G
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000514698
  gene symbol: IDUA
  hgvsc: ENST00000514698.1:n.199+1730A>G
  variant of: http://identifiers.org/hgnc/5391
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 8391
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13193
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5039
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2793
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28144
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1528
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ile656Thr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

4-982762-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 982762
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 982762
    reference: chr 4
allele count: 8
allele frequency: 1.506080801234986e-4
allele num: 53118
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000509744
  gene symbol: IDUA
  hgvsc: ENST00000509744.1:n.36-257G>C
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000424847
  ensembl transcript: ENST00000504568
  gene symbol: IDUA
  hgvsc: ENST00000504568.1:c.259+1063G>C
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000354721
  ensembl transcript: ENST00000361661
  gene symbol: SLC26A1
  hgvsc: ENST00000361661.2:c.1965C>G
  hgvsp: ENSP00000354721.2:p.Asp655Glu
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000508168
  gene symbol: IDUA
  hgvsc: ENST00000508168.1:n.177+1732G>C
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000422952
  ensembl transcript: ENST00000502910
  gene symbol: IDUA
  hgvsc: ENST00000502910.1:c.158+1732G>C
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000506561
  gene symbol: IDUA
  hgvsc: ENST00000506561.1:n.308+1025G>C
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000396458
  ensembl transcript: ENST00000453894
  gene symbol: IDUA
  hgvsc: ENST00000453894.1:c.158+1732G>C
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000514698
  gene symbol: IDUA
  hgvsc: ENST00000514698.1:n.199+1732G>C
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381528
  ensembl transcript: ENST00000398516
  gene symbol: SLC26A1
  hgvsc: ENST00000398516.2:c.1965C>G
  hgvsp: ENSP00000381528.2:p.Asp655Glu
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381532
  ensembl transcript: ENST00000398520
  gene symbol: SLC26A1
  hgvsc: ENST00000398520.2:c.576+2154C>G
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000247933
  ensembl transcript: ENST00000247933
  gene symbol: IDUA
  hgvsc: ENST00000247933.4:c.299+1025G>C
  variant of: http://identifiers.org/hgnc/5391
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27965
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5319
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2774
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8040
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13359
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asp655Glu
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ

4-982763-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 982763
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 982763
    reference: chr 4
allele count: 1
allele frequency: 1.879699248120301e-5
allele num: 53200
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381528
  ensembl transcript: ENST00000398516
  gene symbol: SLC26A1
  hgvsc: ENST00000398516.2:c.1964A>C
  hgvsp: ENSP00000381528.2:p.Asp655Ala
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000506561
  gene symbol: IDUA
  hgvsc: ENST00000506561.1:n.308+1026T>G
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000422952
  ensembl transcript: ENST00000502910
  gene symbol: IDUA
  hgvsc: ENST00000502910.1:c.158+1733T>G
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000396458
  ensembl transcript: ENST00000453894
  gene symbol: IDUA
  hgvsc: ENST00000453894.1:c.158+1733T>G
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000247933
  ensembl transcript: ENST00000247933
  gene symbol: IDUA
  hgvsc: ENST00000247933.4:c.299+1026T>G
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000514698
  gene symbol: IDUA
  hgvsc: ENST00000514698.1:n.199+1733T>G
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000508168
  gene symbol: IDUA
  hgvsc: ENST00000508168.1:n.177+1733T>G
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000424847
  ensembl transcript: ENST00000504568
  gene symbol: IDUA
  hgvsc: ENST00000504568.1:c.259+1064T>G
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000354721
  ensembl transcript: ENST00000361661
  gene symbol: SLC26A1
  hgvsc: ENST00000361661.2:c.1964A>C
  hgvsp: ENSP00000354721.2:p.Asp655Ala
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000509744
  gene symbol: IDUA
  hgvsc: ENST00000509744.1:n.36-256T>G
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381532
  ensembl transcript: ENST00000398520
  gene symbol: SLC26A1
  hgvsc: ENST00000398520.2:c.576+2153A>C
  variant of: http://identifiers.org/hgnc/10993
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8097
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5303
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13333
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2778
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27997
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asp655Ala
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD

4-982768-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 982768
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 982768
    reference: chr 4
allele count: 5
allele frequency: 9.604302727621975e-5
allele num: 52060
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000424847
  ensembl transcript: ENST00000504568
  gene symbol: IDUA
  hgvsc: ENST00000504568.1:c.259+1069C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381532
  ensembl transcript: ENST00000398520
  gene symbol: SLC26A1
  hgvsc: ENST00000398520.2:c.576+2148G>A
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381528
  ensembl transcript: ENST00000398516
  gene symbol: SLC26A1
  hgvsc: ENST00000398516.2:c.1959G>A
  hgvsp: ENST00000398516.2:c.1959G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000514698
  gene symbol: IDUA
  hgvsc: ENST00000514698.1:n.199+1738C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000506561
  gene symbol: IDUA
  hgvsc: ENST00000506561.1:n.308+1031C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000354721
  ensembl transcript: ENST00000361661
  gene symbol: SLC26A1
  hgvsc: ENST00000361661.2:c.1959G>A
  hgvsp: ENST00000361661.2:c.1959G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000508168
  gene symbol: IDUA
  hgvsc: ENST00000508168.1:n.177+1738C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000396458
  ensembl transcript: ENST00000453894
  gene symbol: IDUA
  hgvsc: ENST00000453894.1:c.158+1738C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000422952
  ensembl transcript: ENST00000502910
  gene symbol: IDUA
  hgvsc: ENST00000502910.1:c.158+1738C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000509744
  gene symbol: IDUA
  hgvsc: ENST00000509744.1:n.36-251C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000247933
  ensembl transcript: ENST00000247933
  gene symbol: IDUA
  hgvsc: ENST00000247933.4:c.299+1031C>T
  variant of: http://identifiers.org/hgnc/5391
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13650
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2685
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7345
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5918
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27687
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6167
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val653Val
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: ClippingRankSum

4-982769-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 982769
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 982769
    reference: chr 4
allele count: 15
allele frequency: 2.877201058809989e-4
allele num: 52134
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000509744
  gene symbol: IDUA
  hgvsc: ENST00000509744.1:n.36-250A>G
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000424847
  ensembl transcript: ENST00000504568
  gene symbol: IDUA
  hgvsc: ENST00000504568.1:c.259+1070A>G
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000514698
  gene symbol: IDUA
  hgvsc: ENST00000514698.1:n.199+1739A>G
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000396458
  ensembl transcript: ENST00000453894
  gene symbol: IDUA
  hgvsc: ENST00000453894.1:c.158+1739A>G
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381532
  ensembl transcript: ENST00000398520
  gene symbol: SLC26A1
  hgvsc: ENST00000398520.2:c.576+2147T>C
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000354721
  ensembl transcript: ENST00000361661
  gene symbol: SLC26A1
  hgvsc: ENST00000361661.2:c.1958T>C
  hgvsp: ENSP00000354721.2:p.Val653Ala
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000422952
  ensembl transcript: ENST00000502910
  gene symbol: IDUA
  hgvsc: ENST00000502910.1:c.158+1739A>G
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000247933
  ensembl transcript: ENST00000247933
  gene symbol: IDUA
  hgvsc: ENST00000247933.4:c.299+1032A>G
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381528
  ensembl transcript: ENST00000398516
  gene symbol: SLC26A1
  hgvsc: ENST00000398516.2:c.1958T>C
  hgvsp: ENSP00000381528.2:p.Val653Ala
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000508168
  gene symbol: IDUA
  hgvsc: ENST00000508168.1:n.177+1739A>G
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000506561
  gene symbol: IDUA
  hgvsc: ENST00000506561.1:n.308+1032A>G
  variant of: http://identifiers.org/hgnc/5391
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 27722
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 13636
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7363
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5919
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1453
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val653Ala
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

4-982774-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 982774
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 982774
    reference: chr 4
allele count: 32
allele frequency: 6.279188414897375e-4
allele num: 50962
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381532
  ensembl transcript: ENST00000398520
  gene symbol: SLC26A1
  hgvsc: ENST00000398520.2:c.576+2142G>A
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000508168
  gene symbol: IDUA
  hgvsc: ENST00000508168.1:n.177+1744C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000396458
  ensembl transcript: ENST00000453894
  gene symbol: IDUA
  hgvsc: ENST00000453894.1:c.158+1744C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000514698
  gene symbol: IDUA
  hgvsc: ENST00000514698.1:n.199+1744C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000354721
  ensembl transcript: ENST00000361661
  gene symbol: SLC26A1
  hgvsc: ENST00000361661.2:c.1953G>A
  hgvsp: ENST00000361661.2:c.1953G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000422952
  ensembl transcript: ENST00000502910
  gene symbol: IDUA
  hgvsc: ENST00000502910.1:c.158+1744C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000509744
  gene symbol: IDUA
  hgvsc: ENST00000509744.1:n.36-245C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000247933
  ensembl transcript: ENST00000247933
  gene symbol: IDUA
  hgvsc: ENST00000247933.4:c.299+1037C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381528
  ensembl transcript: ENST00000398516
  gene symbol: SLC26A1
  hgvsc: ENST00000398516.2:c.1953G>A
  hgvsp: ENST00000398516.2:c.1953G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000506561
  gene symbol: IDUA
  hgvsc: ENST00000506561.1:n.308+1037C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000424847
  ensembl transcript: ENST00000504568
  gene symbol: IDUA
  hgvsc: ENST00000504568.1:c.259+1075C>T
  variant of: http://identifiers.org/hgnc/5391
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13565
  bin: 1.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27668
  bin: 7.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 7029
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6315
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1937
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2643
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro651Pro
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum

4-982775-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 982775
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 982775
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 51026
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000514698
  gene symbol: IDUA
  hgvsc: ENST00000514698.1:n.199+1745G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000354721
  ensembl transcript: ENST00000361661
  gene symbol: SLC26A1
  hgvsc: ENST00000361661.2:c.1952C>T
  hgvsp: ENSP00000354721.2:p.Pro651Leu
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000509744
  gene symbol: IDUA
  hgvsc: ENST00000509744.1:n.36-244G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000247933
  ensembl transcript: ENST00000247933
  gene symbol: IDUA
  hgvsc: ENST00000247933.4:c.299+1038G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381528
  ensembl transcript: ENST00000398516
  gene symbol: SLC26A1
  hgvsc: ENST00000398516.2:c.1952C>T
  hgvsp: ENSP00000381528.2:p.Pro651Leu
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381532
  ensembl transcript: ENST00000398520
  gene symbol: SLC26A1
  hgvsc: ENST00000398520.2:c.576+2141C>T
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000396458
  ensembl transcript: ENST00000453894
  gene symbol: IDUA
  hgvsc: ENST00000453894.1:c.158+1745G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000506561
  gene symbol: IDUA
  hgvsc: ENST00000506561.1:n.308+1038G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000424847
  ensembl transcript: ENST00000504568
  gene symbol: IDUA
  hgvsc: ENST00000504568.1:c.259+1076G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000508168
  gene symbol: IDUA
  hgvsc: ENST00000508168.1:n.177+1745G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000422952
  ensembl transcript: ENST00000502910
  gene symbol: IDUA
  hgvsc: ENST00000502910.1:c.158+1745G>A
  variant of: http://identifiers.org/hgnc/5391
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13520
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2648
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27754
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7066
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6323
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro651Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

4-982779-TGCAGCAGGCTA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 982779
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 982768
    reference: chr 4
allele count: 3
allele frequency: 5.960659646334195e-5
allele num: 50330
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000506561
  gene symbol: IDUA
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000509744
  gene symbol: IDUA
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000422952
  ensembl transcript: ENST00000502910
  gene symbol: IDUA
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000354721
  ensembl transcript: ENST00000361661
  gene symbol: SLC26A1
  hgvsp: ENSP00000354721.2:p.Leu646GlnfsTer23
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381532
  ensembl transcript: ENST00000398520
  gene symbol: SLC26A1
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000396458
  ensembl transcript: ENST00000453894
  gene symbol: IDUA
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000424847
  ensembl transcript: ENST00000504568
  gene symbol: IDUA
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381528
  ensembl transcript: ENST00000398516
  gene symbol: SLC26A1
  hgvsp: ENSP00000381528.2:p.Leu646GlnfsTer23
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000514698
  gene symbol: IDUA
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000508168
  gene symbol: IDUA
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000247933
  ensembl transcript: ENST00000247933
  gene symbol: IDUA
  variant of: http://identifiers.org/hgnc/5391
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13365
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6752
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2577
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27800
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6914
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu646GlnfsTer23
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: TGCAGCAGGCTA
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ

4-982788-C-CTAGCA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 982788
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 982793
    reference: chr 4
allele count: 2
allele frequency: 4.085801838610828e-5
allele num: 48950
alternate allele: CTAGCA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381532
  ensembl transcript: ENST00000398520
  gene symbol: SLC26A1
  hgvsc: ENST00000398520.2:c.576+2123_576+2127dupTGCTA
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000424847
  ensembl transcript: ENST00000504568
  gene symbol: IDUA
  hgvsc: ENST00000504568.1:c.259+1090_259+1094dupTAGCA
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000396458
  ensembl transcript: ENST00000453894
  gene symbol: IDUA
  hgvsc: ENST00000453894.1:c.158+1759_158+1763dupTAGCA
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000422952
  ensembl transcript: ENST00000502910
  gene symbol: IDUA
  hgvsc: ENST00000502910.1:c.158+1759_158+1763dupTAGCA
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000514698
  gene symbol: IDUA
  hgvsc: ENST00000514698.1:n.199+1759_199+1763dupTAGCA
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000506561
  gene symbol: IDUA
  hgvsc: ENST00000506561.1:n.308+1052_308+1056dupTAGCA
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381528
  ensembl transcript: ENST00000398516
  gene symbol: SLC26A1
  hgvsc: ENST00000398516.2:c.1934_1938dupTGCTA
  hgvsp: ENSP00000381528.2:p.Ala647CysfsTer2
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000247933
  ensembl transcript: ENST00000247933
  gene symbol: IDUA
  hgvsc: ENST00000247933.4:c.299+1052_299+1056dupTAGCA
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000354721
  ensembl transcript: ENST00000361661
  gene symbol: SLC26A1
  hgvsc: ENST00000361661.2:c.1934_1938dupTGCTA
  hgvsp: ENSP00000354721.2:p.Ala647CysfsTer2
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000509744
  gene symbol: IDUA
  hgvsc: ENST00000509744.1:n.36-230_36-226dupTAGCA
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000508168
  gene symbol: IDUA
  hgvsc: ENST00000508168.1:n.177+1759_177+1763dupTAGCA
  variant of: http://identifiers.org/hgnc/5391
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2522
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13223
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27662
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6491
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7492
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala647CysfsTer2
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum

4-982789-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 982789
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 982789
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 48846
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000354721
  ensembl transcript: ENST00000361661
  gene symbol: SLC26A1
  hgvsc: ENST00000361661.2:c.1938A>C
  hgvsp: ENST00000361661.2:c.1938A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000506561
  gene symbol: IDUA
  hgvsc: ENST00000506561.1:n.308+1052T>G
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381528
  ensembl transcript: ENST00000398516
  gene symbol: SLC26A1
  hgvsc: ENST00000398516.2:c.1938A>C
  hgvsp: ENST00000398516.2:c.1938A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000424847
  ensembl transcript: ENST00000504568
  gene symbol: IDUA
  hgvsc: ENST00000504568.1:c.259+1090T>G
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000509744
  gene symbol: IDUA
  hgvsc: ENST00000509744.1:n.36-230T>G
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381532
  ensembl transcript: ENST00000398520
  gene symbol: SLC26A1
  hgvsc: ENST00000398520.2:c.576+2127A>C
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000247933
  ensembl transcript: ENST00000247933
  gene symbol: IDUA
  hgvsc: ENST00000247933.4:c.299+1052T>G
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000514698
  gene symbol: IDUA
  hgvsc: ENST00000514698.1:n.199+1759T>G
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000422952
  ensembl transcript: ENST00000502910
  gene symbol: IDUA
  hgvsc: ENST00000502910.1:c.158+1759T>G
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000508168
  gene symbol: IDUA
  hgvsc: ENST00000508168.1:n.177+1759T>G
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000396458
  ensembl transcript: ENST00000453894
  gene symbol: IDUA
  hgvsc: ENST00000453894.1:c.158+1759T>G
  variant of: http://identifiers.org/hgnc/5391
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7645
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6417
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27614
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu646Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum

4-982797-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 982797
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 982797
    reference: chr 4
allele count: 1
allele frequency: 2.092312842616228e-5
allele num: 47794
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000506561
  gene symbol: IDUA
  hgvsc: ENST00000506561.1:n.308+1060G>C
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000354721
  ensembl transcript: ENST00000361661
  gene symbol: SLC26A1
  hgvsc: ENST00000361661.2:c.1930C>G
  hgvsp: ENSP00000354721.2:p.Leu644Val
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000422952
  ensembl transcript: ENST00000502910
  gene symbol: IDUA
  hgvsc: ENST00000502910.1:c.158+1767G>C
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000514698
  gene symbol: IDUA
  hgvsc: ENST00000514698.1:n.199+1767G>C
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381528
  ensembl transcript: ENST00000398516
  gene symbol: SLC26A1
  hgvsc: ENST00000398516.2:c.1930C>G
  hgvsp: ENSP00000381528.2:p.Leu644Val
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000247933
  ensembl transcript: ENST00000247933
  gene symbol: IDUA
  hgvsc: ENST00000247933.4:c.299+1060G>C
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000424847
  ensembl transcript: ENST00000504568
  gene symbol: IDUA
  hgvsc: ENST00000504568.1:c.259+1098G>C
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000509744
  gene symbol: IDUA
  hgvsc: ENST00000509744.1:n.36-222G>C
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000396458
  ensembl transcript: ENST00000453894
  gene symbol: IDUA
  hgvsc: ENST00000453894.1:c.158+1767G>C
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381532
  ensembl transcript: ENST00000398520
  gene symbol: SLC26A1
  hgvsc: ENST00000398520.2:c.576+2119C>G
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000508168
  gene symbol: IDUA
  hgvsc: ENST00000508168.1:n.177+1767G>C
  variant of: http://identifiers.org/hgnc/5391
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13097
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2470
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27534
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6019
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8230
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3137
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu644Val
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

4-982806-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 982806
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 982806
    reference: chr 4
allele count: 1
allele frequency: 2.168821028888696e-5
allele num: 46108
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000506561
  gene symbol: IDUA
  hgvsc: ENST00000506561.1:n.308+1069C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381532
  ensembl transcript: ENST00000398520
  gene symbol: SLC26A1
  hgvsc: ENST00000398520.2:c.576+2110G>A
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000354721
  ensembl transcript: ENST00000361661
  gene symbol: SLC26A1
  hgvsc: ENST00000361661.2:c.1921G>A
  hgvsp: ENSP00000354721.2:p.Gly641Ser
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000422952
  ensembl transcript: ENST00000502910
  gene symbol: IDUA
  hgvsc: ENST00000502910.1:c.158+1776C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000247933
  ensembl transcript: ENST00000247933
  gene symbol: IDUA
  hgvsc: ENST00000247933.4:c.299+1069C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000509744
  gene symbol: IDUA
  hgvsc: ENST00000509744.1:n.36-213C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381528
  ensembl transcript: ENST00000398516
  gene symbol: SLC26A1
  hgvsc: ENST00000398516.2:c.1921G>A
  hgvsp: ENSP00000381528.2:p.Gly641Ser
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000424847
  ensembl transcript: ENST00000504568
  gene symbol: IDUA
  hgvsc: ENST00000504568.1:c.259+1107C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000514698
  gene symbol: IDUA
  hgvsc: ENST00000514698.1:n.199+1776C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000396458
  ensembl transcript: ENST00000453894
  gene symbol: IDUA
  hgvsc: ENST00000453894.1:c.158+1776C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000508168
  gene symbol: IDUA
  hgvsc: ENST00000508168.1:n.177+1776C>T
  variant of: http://identifiers.org/hgnc/5391
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2386
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12971
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27081
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9258
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5139
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly641Ser
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

4-982809-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 982809
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 982809
    reference: chr 4
allele count: 2
allele frequency: 4.412867922863068e-5
allele num: 45322
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000509744
  gene symbol: IDUA
  hgvsc: ENST00000509744.1:n.36-210G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381532
  ensembl transcript: ENST00000398520
  gene symbol: SLC26A1
  hgvsc: ENST00000398520.2:c.576+2107C>T
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000247933
  ensembl transcript: ENST00000247933
  gene symbol: IDUA
  hgvsc: ENST00000247933.4:c.299+1072G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000422952
  ensembl transcript: ENST00000502910
  gene symbol: IDUA
  hgvsc: ENST00000502910.1:c.158+1779G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000508168
  gene symbol: IDUA
  hgvsc: ENST00000508168.1:n.177+1779G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000424847
  ensembl transcript: ENST00000504568
  gene symbol: IDUA
  hgvsc: ENST00000504568.1:c.259+1110G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000354721
  ensembl transcript: ENST00000361661
  gene symbol: SLC26A1
  hgvsc: ENST00000361661.2:c.1918C>T
  hgvsp: ENST00000361661.2:c.1918C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000506561
  gene symbol: IDUA
  hgvsc: ENST00000506561.1:n.308+1072G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381528
  ensembl transcript: ENST00000398516
  gene symbol: SLC26A1
  hgvsc: ENST00000398516.2:c.1918C>T
  hgvsp: ENST00000398516.2:c.1918C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000514698
  gene symbol: IDUA
  hgvsc: ENST00000514698.1:n.199+1779G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000396458
  ensembl transcript: ENST00000453894
  gene symbol: IDUA
  hgvsc: ENST00000453894.1:c.158+1779G>A
  variant of: http://identifiers.org/hgnc/5391
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12754
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9544
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2358
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27084
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4959
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1091
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu640Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

4-982815-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 982815
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 982815
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 44150
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381532
  ensembl transcript: ENST00000398520
  gene symbol: SLC26A1
  hgvsc: ENST00000398520.2:c.576+2101G>A
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000247933
  ensembl transcript: ENST00000247933
  gene symbol: IDUA
  hgvsc: ENST00000247933.4:c.299+1078C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000509744
  gene symbol: IDUA
  hgvsc: ENST00000509744.1:n.36-204C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000354721
  ensembl transcript: ENST00000361661
  gene symbol: SLC26A1
  hgvsc: ENST00000361661.2:c.1912G>A
  hgvsp: ENSP00000354721.2:p.Gly638Arg
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000424847
  ensembl transcript: ENST00000504568
  gene symbol: IDUA
  hgvsc: ENST00000504568.1:c.259+1116C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000508168
  gene symbol: IDUA
  hgvsc: ENST00000508168.1:n.177+1785C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381528
  ensembl transcript: ENST00000398516
  gene symbol: SLC26A1
  hgvsc: ENST00000398516.2:c.1912G>A
  hgvsp: ENSP00000381528.2:p.Gly638Arg
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000506561
  gene symbol: IDUA
  hgvsc: ENST00000506561.1:n.308+1078C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000396458
  ensembl transcript: ENST00000453894
  gene symbol: IDUA
  hgvsc: ENST00000453894.1:c.158+1785C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000514698
  gene symbol: IDUA
  hgvsc: ENST00000514698.1:n.199+1785C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000422952
  ensembl transcript: ENST00000502910
  gene symbol: IDUA
  hgvsc: ENST00000502910.1:c.158+1785C>T
  variant of: http://identifiers.org/hgnc/5391
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27261
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4642
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12420
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9886
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly638Arg
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

4-982816-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 982816
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 982816
    reference: chr 4
allele count: 3
allele frequency: 6.867502975917957e-5
allele num: 43684
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381532
  ensembl transcript: ENST00000398520
  gene symbol: SLC26A1
  hgvsc: ENST00000398520.2:c.576+2100C>T
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000514698
  gene symbol: IDUA
  hgvsc: ENST00000514698.1:n.199+1786G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000509744
  gene symbol: IDUA
  hgvsc: ENST00000509744.1:n.36-203G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000424847
  ensembl transcript: ENST00000504568
  gene symbol: IDUA
  hgvsc: ENST00000504568.1:c.259+1117G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381528
  ensembl transcript: ENST00000398516
  gene symbol: SLC26A1
  hgvsc: ENST00000398516.2:c.1911C>T
  hgvsp: ENST00000398516.2:c.1911C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000247933
  ensembl transcript: ENST00000247933
  gene symbol: IDUA
  hgvsc: ENST00000247933.4:c.299+1079G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000396458
  ensembl transcript: ENST00000453894
  gene symbol: IDUA
  hgvsc: ENST00000453894.1:c.158+1786G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000508168
  gene symbol: IDUA
  hgvsc: ENST00000508168.1:n.177+1786G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000506561
  gene symbol: IDUA
  hgvsc: ENST00000506561.1:n.308+1079G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000422952
  ensembl transcript: ENST00000502910
  gene symbol: IDUA
  hgvsc: ENST00000502910.1:c.158+1786G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000354721
  ensembl transcript: ENST00000361661
  gene symbol: SLC26A1
  hgvsc: ENST00000361661.2:c.1911C>T
  hgvsp: ENST00000361661.2:c.1911C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10993
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2618
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12276
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9912
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2205
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4578
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27391
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Tyr637Tyr
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

4-982817-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 982817
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 982817
    reference: chr 4
allele count: 5
allele frequency: 1.147420598494584e-4
allele num: 43576
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000354721
  ensembl transcript: ENST00000361661
  gene symbol: SLC26A1
  hgvsc: ENST00000361661.2:c.1910A>G
  hgvsp: ENSP00000354721.2:p.Tyr637Cys
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000509744
  gene symbol: IDUA
  hgvsc: ENST00000509744.1:n.36-202T>C
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000508168
  gene symbol: IDUA
  hgvsc: ENST00000508168.1:n.177+1787T>C
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000424847
  ensembl transcript: ENST00000504568
  gene symbol: IDUA
  hgvsc: ENST00000504568.1:c.259+1118T>C
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000396458
  ensembl transcript: ENST00000453894
  gene symbol: IDUA
  hgvsc: ENST00000453894.1:c.158+1787T>C
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381528
  ensembl transcript: ENST00000398516
  gene symbol: SLC26A1
  hgvsc: ENST00000398516.2:c.1910A>G
  hgvsp: ENSP00000381528.2:p.Tyr637Cys
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000422952
  ensembl transcript: ENST00000502910
  gene symbol: IDUA
  hgvsc: ENST00000502910.1:c.158+1787T>C
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381532
  ensembl transcript: ENST00000398520
  gene symbol: SLC26A1
  hgvsc: ENST00000398520.2:c.576+2099A>G
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000506561
  gene symbol: IDUA
  hgvsc: ENST00000506561.1:n.308+1080T>C
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000247933
  ensembl transcript: ENST00000247933
  gene symbol: IDUA
  hgvsc: ENST00000247933.4:c.299+1080T>C
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000514698
  gene symbol: IDUA
  hgvsc: ENST00000514698.1:n.199+1787T>C
  variant of: http://identifiers.org/hgnc/5391
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12164
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27503
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4514
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2645
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9986
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 7.75e1
  variant carriers: 1
hgvs: p.Tyr637Cys
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum

4-982819-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 982819
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 982819
    reference: chr 4
allele count: 1
allele frequency: 2.305634971871253e-5
allele num: 43372
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000247933
  ensembl transcript: ENST00000247933
  gene symbol: IDUA
  hgvsc: ENST00000247933.4:c.299+1082G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000506561
  gene symbol: IDUA
  hgvsc: ENST00000506561.1:n.308+1082G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000424847
  ensembl transcript: ENST00000504568
  gene symbol: IDUA
  hgvsc: ENST00000504568.1:c.259+1120G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000396458
  ensembl transcript: ENST00000453894
  gene symbol: IDUA
  hgvsc: ENST00000453894.1:c.158+1789G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000354721
  ensembl transcript: ENST00000361661
  gene symbol: SLC26A1
  hgvsc: ENST00000361661.2:c.1908C>T
  hgvsp: ENST00000361661.2:c.1908C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000509744
  gene symbol: IDUA
  hgvsc: ENST00000509744.1:n.36-200G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381532
  ensembl transcript: ENST00000398520
  gene symbol: SLC26A1
  hgvsc: ENST00000398520.2:c.576+2097C>T
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381528
  ensembl transcript: ENST00000398516
  gene symbol: SLC26A1
  hgvsc: ENST00000398516.2:c.1908C>T
  hgvsp: ENST00000398516.2:c.1908C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000422952
  ensembl transcript: ENST00000502910
  gene symbol: IDUA
  hgvsc: ENST00000502910.1:c.158+1789G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000514698
  gene symbol: IDUA
  hgvsc: ENST00000514698.1:n.199+1789G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000508168
  gene symbol: IDUA
  hgvsc: ENST00000508168.1:n.177+1789G>A
  variant of: http://identifiers.org/hgnc/5391
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12022
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10013
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27649
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4483
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp636Asp
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/4-982821-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 982821
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 982821
    reference: chr 4
allele count: 147
allele frequency: 3.396801922543673e-3
allele num: 43276
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000424847
  ensembl transcript: ENST00000504568
  gene symbol: IDUA
  hgvsc: ENST00000504568.1:c.259+1122C>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000509744
  gene symbol: IDUA
  hgvsc: ENST00000509744.1:n.36-198C>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000247933
  ensembl transcript: ENST00000247933
  gene symbol: IDUA
  hgvsc: ENST00000247933.4:c.299+1084C>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381528
  ensembl transcript: ENST00000398516
  gene symbol: SLC26A1
  hgvsc: ENST00000398516.2:c.1906G>T
  hgvsp: ENSP00000381528.2:p.Asp636Tyr
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000506561
  gene symbol: IDUA
  hgvsc: ENST00000506561.1:n.308+1084C>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000508168
  gene symbol: IDUA
  hgvsc: ENST00000508168.1:n.177+1791C>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000514698
  gene symbol: IDUA
  hgvsc: ENST00000514698.1:n.199+1791C>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000354721
  ensembl transcript: ENST00000361661
  gene symbol: SLC26A1
  hgvsc: ENST00000361661.2:c.1906G>T
  hgvsp: ENSP00000354721.2:p.Asp636Tyr
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381532
  ensembl transcript: ENST00000398520
  gene symbol: SLC26A1
  hgvsc: ENST00000398520.2:c.576+2095G>T
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000396458
  ensembl transcript: ENST00000453894
  gene symbol: IDUA
  hgvsc: ENST00000453894.1:c.158+1791C>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000422952
  ensembl transcript: ENST00000502910
  gene symbol: IDUA
  hgvsc: ENST00000502910.1:c.158+1791C>A
  variant of: http://identifiers.org/hgnc/5391
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2735
  bin: 1.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27705
  bin: 7.5e0
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10026
  bin: 2.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11954
  bin: 1.25e1
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp636Tyr
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD

4-982823-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 982823
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 982823
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 42518
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000424847
  ensembl transcript: ENST00000504568
  gene symbol: IDUA
  hgvsc: ENST00000504568.1:c.259+1124C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000354721
  ensembl transcript: ENST00000361661
  gene symbol: SLC26A1
  hgvsc: ENST00000361661.2:c.1904G>A
  hgvsp: ENSP00000354721.2:p.Arg635Gln
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000514698
  gene symbol: IDUA
  hgvsc: ENST00000514698.1:n.199+1793C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381528
  ensembl transcript: ENST00000398516
  gene symbol: SLC26A1
  hgvsc: ENST00000398516.2:c.1904G>A
  hgvsp: ENSP00000381528.2:p.Arg635Gln
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000508168
  gene symbol: IDUA
  hgvsc: ENST00000508168.1:n.177+1793C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000506561
  gene symbol: IDUA
  hgvsc: ENST00000506561.1:n.308+1086C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000247933
  ensembl transcript: ENST00000247933
  gene symbol: IDUA
  hgvsc: ENST00000247933.4:c.299+1086C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381532
  ensembl transcript: ENST00000398520
  gene symbol: SLC26A1
  hgvsc: ENST00000398520.2:c.576+2093G>A
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000422952
  ensembl transcript: ENST00000502910
  gene symbol: IDUA
  hgvsc: ENST00000502910.1:c.158+1793C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000396458
  ensembl transcript: ENST00000453894
  gene symbol: IDUA
  hgvsc: ENST00000453894.1:c.158+1793C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000509744
  gene symbol: IDUA
  hgvsc: ENST00000509744.1:n.36-196C>T
  variant of: http://identifiers.org/hgnc/5391
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 27856
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10028
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2761
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4342
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11847
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5454
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg635Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP

4-982826-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 982826
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 982826
    reference: chr 4
allele count: 6
allele frequency: 1.405744810458741e-4
allele num: 42682
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000514698
  gene symbol: IDUA
  hgvsc: ENST00000514698.1:n.199+1796C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000506561
  gene symbol: IDUA
  hgvsc: ENST00000506561.1:n.308+1089C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000422952
  ensembl transcript: ENST00000502910
  gene symbol: IDUA
  hgvsc: ENST00000502910.1:c.158+1796C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000509744
  gene symbol: IDUA
  hgvsc: ENST00000509744.1:n.36-193C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381532
  ensembl transcript: ENST00000398520
  gene symbol: SLC26A1
  hgvsc: ENST00000398520.2:c.576+2090G>A
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381528
  ensembl transcript: ENST00000398516
  gene symbol: SLC26A1
  hgvsc: ENST00000398516.2:c.1901G>A
  hgvsp: ENSP00000381528.2:p.Arg634His
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000424847
  ensembl transcript: ENST00000504568
  gene symbol: IDUA
  hgvsc: ENST00000504568.1:c.259+1127C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000396458
  ensembl transcript: ENST00000453894
  gene symbol: IDUA
  hgvsc: ENST00000453894.1:c.158+1796C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000508168
  gene symbol: IDUA
  hgvsc: ENST00000508168.1:n.177+1796C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000354721
  ensembl transcript: ENST00000361661
  gene symbol: SLC26A1
  hgvsc: ENST00000361661.2:c.1901G>A
  hgvsp: ENSP00000354721.2:p.Arg634His
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000247933
  ensembl transcript: ENST00000247933
  gene symbol: IDUA
  hgvsc: ENST00000247933.4:c.299+1089C>T
  variant of: http://identifiers.org/hgnc/5391
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2747
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11816
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 28053
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4315
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9922
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3117
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg634His
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

4-982837-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 982837
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 982837
    reference: chr 4
allele count: 1
allele frequency: 2.298956273851671e-5
allele num: 43498
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000506561
  gene symbol: IDUA
  hgvsc: ENST00000506561.1:n.308+1100C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381528
  ensembl transcript: ENST00000398516
  gene symbol: SLC26A1
  hgvsc: ENST00000398516.2:c.1890G>A
  hgvsp: ENST00000398516.2:c.1890G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000514698
  gene symbol: IDUA
  hgvsc: ENST00000514698.1:n.199+1807C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000396458
  ensembl transcript: ENST00000453894
  gene symbol: IDUA
  hgvsc: ENST00000453894.1:c.158+1807C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000424847
  ensembl transcript: ENST00000504568
  gene symbol: IDUA
  hgvsc: ENST00000504568.1:c.259+1138C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000422952
  ensembl transcript: ENST00000502910
  gene symbol: IDUA
  hgvsc: ENST00000502910.1:c.158+1807C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000509744
  gene symbol: IDUA
  hgvsc: ENST00000509744.1:n.36-182C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000354721
  ensembl transcript: ENST00000361661
  gene symbol: SLC26A1
  hgvsc: ENST00000361661.2:c.1890G>A
  hgvsp: ENST00000361661.2:c.1890G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381532
  ensembl transcript: ENST00000398520
  gene symbol: SLC26A1
  hgvsc: ENST00000398520.2:c.576+2079G>A
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000247933
  ensembl transcript: ENST00000247933
  gene symbol: IDUA
  hgvsc: ENST00000247933.4:c.299+1100C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000508168
  gene symbol: IDUA
  hgvsc: ENST00000508168.1:n.177+1807C>T
  variant of: http://identifiers.org/hgnc/5391
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28786
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8863
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2799
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11935
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4448
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2160
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu630Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: QD

4-982839-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 982839
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 982839
    reference: chr 4
allele count: 1
allele frequency: 2.272520679938188e-5
allele num: 44004
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381528
  ensembl transcript: ENST00000398516
  gene symbol: SLC26A1
  hgvsc: ENST00000398516.2:c.1888C>T
  hgvsp: ENST00000398516.2:c.1888C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000514698
  gene symbol: IDUA
  hgvsc: ENST00000514698.1:n.199+1809G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000506561
  gene symbol: IDUA
  hgvsc: ENST00000506561.1:n.308+1102G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000424847
  ensembl transcript: ENST00000504568
  gene symbol: IDUA
  hgvsc: ENST00000504568.1:c.259+1140G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000247933
  ensembl transcript: ENST00000247933
  gene symbol: IDUA
  hgvsc: ENST00000247933.4:c.299+1102G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000396458
  ensembl transcript: ENST00000453894
  gene symbol: IDUA
  hgvsc: ENST00000453894.1:c.158+1809G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000509744
  gene symbol: IDUA
  hgvsc: ENST00000509744.1:n.36-180G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000354721
  ensembl transcript: ENST00000361661
  gene symbol: SLC26A1
  hgvsc: ENST00000361661.2:c.1888C>T
  hgvsp: ENST00000361661.2:c.1888C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000422952
  ensembl transcript: ENST00000502910
  gene symbol: IDUA
  hgvsc: ENST00000502910.1:c.158+1809G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000508168
  gene symbol: IDUA
  hgvsc: ENST00000508168.1:n.177+1809G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381532
  ensembl transcript: ENST00000398520
  gene symbol: SLC26A1
  hgvsc: ENST00000398520.2:c.576+2077C>T
  variant of: http://identifiers.org/hgnc/10993
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8617
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28967
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11963
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4597
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2154
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu630Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: African
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD

4-982840-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 982840
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 982840
    reference: chr 4
allele count: 1
allele frequency: 2.284774264302687e-5
allele num: 43768
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000422952
  ensembl transcript: ENST00000502910
  gene symbol: IDUA
  hgvsc: ENST00000502910.1:c.158+1810C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381532
  ensembl transcript: ENST00000398520
  gene symbol: SLC26A1
  hgvsc: ENST00000398520.2:c.576+2076G>A
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000396458
  ensembl transcript: ENST00000453894
  gene symbol: IDUA
  hgvsc: ENST00000453894.1:c.158+1810C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000247933
  ensembl transcript: ENST00000247933
  gene symbol: IDUA
  hgvsc: ENST00000247933.4:c.299+1103C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000508168
  gene symbol: IDUA
  hgvsc: ENST00000508168.1:n.177+1810C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000509744
  gene symbol: IDUA
  hgvsc: ENST00000509744.1:n.36-179C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381528
  ensembl transcript: ENST00000398516
  gene symbol: SLC26A1
  hgvsc: ENST00000398516.2:c.1887G>A
  hgvsp: ENST00000398516.2:c.1887G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000424847
  ensembl transcript: ENST00000504568
  gene symbol: IDUA
  hgvsc: ENST00000504568.1:c.259+1141C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000514698
  gene symbol: IDUA
  hgvsc: ENST00000514698.1:n.199+1810C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000354721
  ensembl transcript: ENST00000361661
  gene symbol: SLC26A1
  hgvsc: ENST00000361661.2:c.1887G>A
  hgvsp: ENST00000361661.2:c.1887G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000506561
  gene symbol: IDUA
  hgvsc: ENST00000506561.1:n.308+1103C>T
  variant of: http://identifiers.org/hgnc/5391
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8473
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2153
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29000
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12004
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4578
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2760
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr629Thr
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

4-982841-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 982841
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 982841
    reference: chr 4
allele count: 2
allele frequency: 4.529600942156996e-5
allele num: 44154
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000514698
  gene symbol: IDUA
  hgvsc: ENST00000514698.1:n.199+1811G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000424847
  ensembl transcript: ENST00000504568
  gene symbol: IDUA
  hgvsc: ENST00000504568.1:c.259+1142G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000422952
  ensembl transcript: ENST00000502910
  gene symbol: IDUA
  hgvsc: ENST00000502910.1:c.158+1811G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000354721
  ensembl transcript: ENST00000361661
  gene symbol: SLC26A1
  hgvsc: ENST00000361661.2:c.1886C>T
  hgvsp: ENSP00000354721.2:p.Thr629Met
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381532
  ensembl transcript: ENST00000398520
  gene symbol: SLC26A1
  hgvsc: ENST00000398520.2:c.576+2075C>T
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000396458
  ensembl transcript: ENST00000453894
  gene symbol: IDUA
  hgvsc: ENST00000453894.1:c.158+1811G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000506561
  gene symbol: IDUA
  hgvsc: ENST00000506561.1:n.308+1104G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000509744
  gene symbol: IDUA
  hgvsc: ENST00000509744.1:n.36-178G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381528
  ensembl transcript: ENST00000398516
  gene symbol: SLC26A1
  hgvsc: ENST00000398516.2:c.1886C>T
  hgvsp: ENSP00000381528.2:p.Thr629Met
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000247933
  ensembl transcript: ENST00000247933
  gene symbol: IDUA
  hgvsc: ENST00000247933.4:c.299+1104G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000508168
  gene symbol: IDUA
  hgvsc: ENST00000508168.1:n.177+1811G>A
  variant of: http://identifiers.org/hgnc/5391
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4683
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12041
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2729
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29134
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8240
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr629Met
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

4-982845-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 982845
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 982845
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 44862
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381528
  ensembl transcript: ENST00000398516
  gene symbol: SLC26A1
  hgvsc: ENST00000398516.2:c.1882A>G
  hgvsp: ENSP00000381528.2:p.Ser628Gly
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000354721
  ensembl transcript: ENST00000361661
  gene symbol: SLC26A1
  hgvsc: ENST00000361661.2:c.1882A>G
  hgvsp: ENSP00000354721.2:p.Ser628Gly
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000422952
  ensembl transcript: ENST00000502910
  gene symbol: IDUA
  hgvsc: ENST00000502910.1:c.158+1815T>C
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000509744
  gene symbol: IDUA
  hgvsc: ENST00000509744.1:n.36-174T>C
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381532
  ensembl transcript: ENST00000398520
  gene symbol: SLC26A1
  hgvsc: ENST00000398520.2:c.576+2071A>G
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000514698
  gene symbol: IDUA
  hgvsc: ENST00000514698.1:n.199+1815T>C
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000508168
  gene symbol: IDUA
  hgvsc: ENST00000508168.1:n.177+1815T>C
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000396458
  ensembl transcript: ENST00000453894
  gene symbol: IDUA
  hgvsc: ENST00000453894.1:c.158+1815T>C
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000506561
  gene symbol: IDUA
  hgvsc: ENST00000506561.1:n.308+1108T>C
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000424847
  ensembl transcript: ENST00000504568
  gene symbol: IDUA
  hgvsc: ENST00000504568.1:c.259+1146T>C
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000247933
  ensembl transcript: ENST00000247933
  gene symbol: IDUA
  hgvsc: ENST00000247933.4:c.299+1108T>C
  variant of: http://identifiers.org/hgnc/5391
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2164
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7793
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12218
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4746
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29218
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser628Gly
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/4-982848-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 982848
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 982848
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 45488
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000506561
  gene symbol: IDUA
  hgvsc: ENST00000506561.1:n.308+1111C>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000509744
  gene symbol: IDUA
  hgvsc: ENST00000509744.1:n.36-171C>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000508168
  gene symbol: IDUA
  hgvsc: ENST00000508168.1:n.177+1818C>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000424847
  ensembl transcript: ENST00000504568
  gene symbol: IDUA
  hgvsc: ENST00000504568.1:c.259+1149C>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000354721
  ensembl transcript: ENST00000361661
  gene symbol: SLC26A1
  hgvsc: ENST00000361661.2:c.1879G>T
  hgvsp: ENSP00000354721.2:p.Val627Leu
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000422952
  ensembl transcript: ENST00000502910
  gene symbol: IDUA
  hgvsc: ENST00000502910.1:c.158+1818C>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000247933
  ensembl transcript: ENST00000247933
  gene symbol: IDUA
  hgvsc: ENST00000247933.4:c.299+1111C>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381532
  ensembl transcript: ENST00000398520
  gene symbol: SLC26A1
  hgvsc: ENST00000398520.2:c.576+2068G>T
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000396458
  ensembl transcript: ENST00000453894
  gene symbol: IDUA
  hgvsc: ENST00000453894.1:c.158+1818C>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381528
  ensembl transcript: ENST00000398516
  gene symbol: SLC26A1
  hgvsc: ENST00000398516.2:c.1879G>T
  hgvsp: ENSP00000381528.2:p.Val627Leu
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000514698
  gene symbol: IDUA
  hgvsc: ENST00000514698.1:n.199+1818C>A
  variant of: http://identifiers.org/hgnc/5391
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7479
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2846
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12361
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2201
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29209
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4849
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val627Leu
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

4-982851-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 982851
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 982851
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 46310
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000247933
  ensembl transcript: ENST00000247933
  gene symbol: IDUA
  hgvsc: ENST00000247933.4:c.299+1114C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000396458
  ensembl transcript: ENST00000453894
  gene symbol: IDUA
  hgvsc: ENST00000453894.1:c.158+1821C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000354721
  ensembl transcript: ENST00000361661
  gene symbol: SLC26A1
  hgvsc: ENST00000361661.2:c.1876G>A
  hgvsp: ENSP00000354721.2:p.Gly626Ser
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381532
  ensembl transcript: ENST00000398520
  gene symbol: SLC26A1
  hgvsc: ENST00000398520.2:c.576+2065G>A
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381528
  ensembl transcript: ENST00000398516
  gene symbol: SLC26A1
  hgvsc: ENST00000398516.2:c.1876G>A
  hgvsp: ENSP00000381528.2:p.Gly626Ser
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000422952
  ensembl transcript: ENST00000502910
  gene symbol: IDUA
  hgvsc: ENST00000502910.1:c.158+1821C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000509744
  gene symbol: IDUA
  hgvsc: ENST00000509744.1:n.36-168C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000508168
  gene symbol: IDUA
  hgvsc: ENST00000508168.1:n.177+1821C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000424847
  ensembl transcript: ENST00000504568
  gene symbol: IDUA
  hgvsc: ENST00000504568.1:c.259+1152C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000506561
  gene symbol: IDUA
  hgvsc: ENST00000506561.1:n.308+1114C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000514698
  gene symbol: IDUA
  hgvsc: ENST00000514698.1:n.199+1821C>T
  variant of: http://identifiers.org/hgnc/5391
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2294
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4972
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6964
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12674
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29092
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3608
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly626Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ

4-982852-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 982852
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 982852
    reference: chr 4
allele count: 34776
allele frequency: 5.296052631578947e-1
allele num: 65664
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381528
  ensembl transcript: ENST00000398516
  gene symbol: SLC26A1
  hgvsc: ENST00000398516.2:c.1875C>T
  hgvsp: ENST00000398516.2:c.1875C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000424847
  ensembl transcript: ENST00000504568
  gene symbol: IDUA
  hgvsc: ENST00000504568.1:c.259+1153G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000506561
  gene symbol: IDUA
  hgvsc: ENST00000506561.1:n.308+1115G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000247933
  ensembl transcript: ENST00000247933
  gene symbol: IDUA
  hgvsc: ENST00000247933.4:c.299+1115G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381532
  ensembl transcript: ENST00000398520
  gene symbol: SLC26A1
  hgvsc: ENST00000398520.2:c.576+2064C>T
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000514698
  gene symbol: IDUA
  hgvsc: ENST00000514698.1:n.199+1822G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000354721
  ensembl transcript: ENST00000361661
  gene symbol: SLC26A1
  hgvsc: ENST00000361661.2:c.1875C>T
  hgvsp: ENST00000361661.2:c.1875C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000509744
  gene symbol: IDUA
  hgvsc: ENST00000509744.1:n.36-167G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000396458
  ensembl transcript: ENST00000453894
  gene symbol: IDUA
  hgvsc: ENST00000453894.1:c.158+1822G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000422952
  ensembl transcript: ENST00000502910
  gene symbol: IDUA
  hgvsc: ENST00000502910.1:c.158+1822G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000508168
  gene symbol: IDUA
  hgvsc: ENST00000508168.1:n.177+1822G>A
  variant of: http://identifiers.org/hgnc/5391
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7666
  bin: 1.75e1
  variant carriers: 6736
genotype depth: GenotypeDepth
  all individuals: 20509
  bin: 7.5e0
  variant carriers: 10221
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 17982
  bin: 1.25e1
  variant carriers: 13945
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2059
  bin: 2.75e1
  variant carriers: 1356
genotype depth: GenotypeDepth
  all individuals: 3960
  bin: 2.5e0
  variant carriers: 818
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 3.75e1
  variant carriers: 646
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.75e1
  variant carriers: 247
genotype depth: GenotypeDepth
  all individuals: 4067
  bin: 2.25e1
  variant carriers: 2613
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 81
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 3.25e1
  variant carriers: 960
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.25e1
  variant carriers: 112
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.25e1
  variant carriers: 401
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 2115
  bin: 3.75e1
  variant carriers: 1755
hgvs: p.Ala625Ala
num of homozygotes: 8093
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

http://identifiers.org/exac.variant/4-982854-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 982854
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 982854
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 63910
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000506561
  gene symbol: IDUA
  hgvsc: ENST00000506561.1:n.308+1117C>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000424847
  ensembl transcript: ENST00000504568
  gene symbol: IDUA
  hgvsc: ENST00000504568.1:c.259+1155C>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000396458
  ensembl transcript: ENST00000453894
  gene symbol: IDUA
  hgvsc: ENST00000453894.1:c.158+1824C>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000509744
  gene symbol: IDUA
  hgvsc: ENST00000509744.1:n.36-165C>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381528
  ensembl transcript: ENST00000398516
  gene symbol: SLC26A1
  hgvsc: ENST00000398516.2:c.1873G>T
  hgvsp: ENSP00000381528.2:p.Ala625Ser
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000514698
  gene symbol: IDUA
  hgvsc: ENST00000514698.1:n.199+1824C>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381532
  ensembl transcript: ENST00000398520
  gene symbol: SLC26A1
  hgvsc: ENST00000398520.2:c.576+2062G>T
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000354721
  ensembl transcript: ENST00000361661
  gene symbol: SLC26A1
  hgvsc: ENST00000361661.2:c.1873G>T
  hgvsp: ENSP00000354721.2:p.Ala625Ser
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000508168
  gene symbol: IDUA
  hgvsc: ENST00000508168.1:n.177+1824C>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000422952
  ensembl transcript: ENST00000502910
  gene symbol: IDUA
  hgvsc: ENST00000502910.1:c.158+1824C>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000247933
  ensembl transcript: ENST00000247933
  gene symbol: IDUA
  hgvsc: ENST00000247933.4:c.299+1117C>A
  variant of: http://identifiers.org/hgnc/5391
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6226
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5455
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17701
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2961
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22063
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4104
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4289
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala625Ser
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum

4-982857-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 982857
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 982857
    reference: chr 4
allele count: 4
allele frequency: 6.276872861940181e-5
allele num: 63726
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000354721
  ensembl transcript: ENST00000361661
  gene symbol: SLC26A1
  hgvsc: ENST00000361661.2:c.1870G>A
  hgvsp: ENSP00000354721.2:p.Ala624Thr
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000508168
  gene symbol: IDUA
  hgvsc: ENST00000508168.1:n.177+1827C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000424847
  ensembl transcript: ENST00000504568
  gene symbol: IDUA
  hgvsc: ENST00000504568.1:c.259+1158C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000514698
  gene symbol: IDUA
  hgvsc: ENST00000514698.1:n.199+1827C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381528
  ensembl transcript: ENST00000398516
  gene symbol: SLC26A1
  hgvsc: ENST00000398516.2:c.1870G>A
  hgvsp: ENSP00000381528.2:p.Ala624Thr
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000247933
  ensembl transcript: ENST00000247933
  gene symbol: IDUA
  hgvsc: ENST00000247933.4:c.299+1120C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000509744
  gene symbol: IDUA
  hgvsc: ENST00000509744.1:n.36-162C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000396458
  ensembl transcript: ENST00000453894
  gene symbol: IDUA
  hgvsc: ENST00000453894.1:c.158+1827C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000506561
  gene symbol: IDUA
  hgvsc: ENST00000506561.1:n.308+1120C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000422952
  ensembl transcript: ENST00000502910
  gene symbol: IDUA
  hgvsc: ENST00000502910.1:c.158+1827C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381532
  ensembl transcript: ENST00000398520
  gene symbol: SLC26A1
  hgvsc: ENST00000398520.2:c.576+2059G>A
  variant of: http://identifiers.org/hgnc/10993
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5402
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22153
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2917
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17708
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4275
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala624Thr
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD

4-982858-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 982858
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 982858
    reference: chr 4
allele count: 6
allele frequency: 9.378810141620032e-5
allele num: 63974
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000514698
  gene symbol: IDUA
  hgvsc: ENST00000514698.1:n.199+1828G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381528
  ensembl transcript: ENST00000398516
  gene symbol: SLC26A1
  hgvsc: ENST00000398516.2:c.1869C>T
  hgvsp: ENST00000398516.2:c.1869C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000247933
  ensembl transcript: ENST00000247933
  gene symbol: IDUA
  hgvsc: ENST00000247933.4:c.299+1121G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000396458
  ensembl transcript: ENST00000453894
  gene symbol: IDUA
  hgvsc: ENST00000453894.1:c.158+1828G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000506561
  gene symbol: IDUA
  hgvsc: ENST00000506561.1:n.308+1121G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000508168
  gene symbol: IDUA
  hgvsc: ENST00000508168.1:n.177+1828G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381532
  ensembl transcript: ENST00000398520
  gene symbol: SLC26A1
  hgvsc: ENST00000398520.2:c.576+2058C>T
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000354721
  ensembl transcript: ENST00000361661
  gene symbol: SLC26A1
  hgvsc: ENST00000361661.2:c.1869C>T
  hgvsp: ENST00000361661.2:c.1869C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000422952
  ensembl transcript: ENST00000502910
  gene symbol: IDUA
  hgvsc: ENST00000502910.1:c.158+1828G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000424847
  ensembl transcript: ENST00000504568
  gene symbol: IDUA
  hgvsc: ENST00000504568.1:c.259+1159G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000509744
  gene symbol: IDUA
  hgvsc: ENST00000509744.1:n.36-161G>A
  variant of: http://identifiers.org/hgnc/5391
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2938
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17694
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5302
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4529
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5954
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22228
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6312
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp623Asp
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

4-982860-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 982860
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 982860
    reference: chr 4
allele count: 1
allele frequency: 1.557826520438684e-5
allele num: 64192
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000396458
  ensembl transcript: ENST00000453894
  gene symbol: IDUA
  hgvsc: ENST00000453894.1:c.158+1830C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000247933
  ensembl transcript: ENST00000247933
  gene symbol: IDUA
  hgvsc: ENST00000247933.4:c.299+1123C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000508168
  gene symbol: IDUA
  hgvsc: ENST00000508168.1:n.177+1830C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000424847
  ensembl transcript: ENST00000504568
  gene symbol: IDUA
  hgvsc: ENST00000504568.1:c.259+1161C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000354721
  ensembl transcript: ENST00000361661
  gene symbol: SLC26A1
  hgvsc: ENST00000361661.2:c.1867G>A
  hgvsp: ENSP00000354721.2:p.Asp623Asn
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000514698
  gene symbol: IDUA
  hgvsc: ENST00000514698.1:n.199+1830C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381528
  ensembl transcript: ENST00000398516
  gene symbol: SLC26A1
  hgvsc: ENST00000398516.2:c.1867G>A
  hgvsp: ENSP00000381528.2:p.Asp623Asn
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000506561
  gene symbol: IDUA
  hgvsc: ENST00000506561.1:n.308+1123C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381532
  ensembl transcript: ENST00000398520
  gene symbol: SLC26A1
  hgvsc: ENST00000398520.2:c.576+2056G>A
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000422952
  ensembl transcript: ENST00000502910
  gene symbol: IDUA
  hgvsc: ENST00000502910.1:c.158+1830C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000509744
  gene symbol: IDUA
  hgvsc: ENST00000509744.1:n.36-159C>T
  variant of: http://identifiers.org/hgnc/5391
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17704
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5820
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22300
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5231
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2930
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4668
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asp623Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

4-982863-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 982863
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 982863
    reference: chr 4
allele count: 2
allele frequency: 3.111194076286479e-5
allele num: 64284
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000247933
  ensembl transcript: ENST00000247933
  gene symbol: IDUA
  hgvsc: ENST00000247933.4:c.299+1126G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000424847
  ensembl transcript: ENST00000504568
  gene symbol: IDUA
  hgvsc: ENST00000504568.1:c.259+1164G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000506561
  gene symbol: IDUA
  hgvsc: ENST00000506561.1:n.308+1126G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381532
  ensembl transcript: ENST00000398520
  gene symbol: SLC26A1
  hgvsc: ENST00000398520.2:c.576+2053C>T
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000422952
  ensembl transcript: ENST00000502910
  gene symbol: IDUA
  hgvsc: ENST00000502910.1:c.158+1833G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000509744
  gene symbol: IDUA
  hgvsc: ENST00000509744.1:n.36-156G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381528
  ensembl transcript: ENST00000398516
  gene symbol: SLC26A1
  hgvsc: ENST00000398516.2:c.1864C>T
  hgvsp: ENST00000398516.2:c.1864C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000514698
  gene symbol: IDUA
  hgvsc: ENST00000514698.1:n.199+1833G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000354721
  ensembl transcript: ENST00000361661
  gene symbol: SLC26A1
  hgvsc: ENST00000361661.2:c.1864C>T
  hgvsp: ENST00000361661.2:c.1864C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000396458
  ensembl transcript: ENST00000453894
  gene symbol: IDUA
  hgvsc: ENST00000453894.1:c.158+1833G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000508168
  gene symbol: IDUA
  hgvsc: ENST00000508168.1:n.177+1833G>A
  variant of: http://identifiers.org/hgnc/5391
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5077
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5057
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17724
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5548
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2922
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22353
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6298
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu622Leu
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

4-982867-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 982867
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 982867
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 64658
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381532
  ensembl transcript: ENST00000398520
  gene symbol: SLC26A1
  hgvsc: ENST00000398520.2:c.576+2049G>A
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000506561
  gene symbol: IDUA
  hgvsc: ENST00000506561.1:n.308+1130C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000422952
  ensembl transcript: ENST00000502910
  gene symbol: IDUA
  hgvsc: ENST00000502910.1:c.158+1837C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000396458
  ensembl transcript: ENST00000453894
  gene symbol: IDUA
  hgvsc: ENST00000453894.1:c.158+1837C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000508168
  gene symbol: IDUA
  hgvsc: ENST00000508168.1:n.177+1837C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000424847
  ensembl transcript: ENST00000504568
  gene symbol: IDUA
  hgvsc: ENST00000504568.1:c.259+1168C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000514698
  gene symbol: IDUA
  hgvsc: ENST00000514698.1:n.199+1837C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381528
  ensembl transcript: ENST00000398516
  gene symbol: SLC26A1
  hgvsc: ENST00000398516.2:c.1860G>A
  hgvsp: ENST00000398516.2:c.1860G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000247933
  ensembl transcript: ENST00000247933
  gene symbol: IDUA
  hgvsc: ENST00000247933.4:c.299+1130C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000354721
  ensembl transcript: ENST00000361661
  gene symbol: SLC26A1
  hgvsc: ENST00000361661.2:c.1860G>A
  hgvsp: ENST00000361661.2:c.1860G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000509744
  gene symbol: IDUA
  hgvsc: ENST00000509744.1:n.36-152C>T
  variant of: http://identifiers.org/hgnc/5391
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 5357
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17750
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4834
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5442
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22386
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2908
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu620Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/4-982873-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 982873
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 982873
    reference: chr 4
allele count: 1
allele frequency: 1.53444836581249e-5
allele num: 65170
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000354721
  ensembl transcript: ENST00000361661
  gene symbol: SLC26A1
  hgvsc: ENST00000361661.2:c.1854G>T
  hgvsp: ENST00000361661.2:c.1854G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381532
  ensembl transcript: ENST00000398520
  gene symbol: SLC26A1
  hgvsc: ENST00000398520.2:c.576+2043G>T
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000422952
  ensembl transcript: ENST00000502910
  gene symbol: IDUA
  hgvsc: ENST00000502910.1:c.158+1843C>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000506561
  gene symbol: IDUA
  hgvsc: ENST00000506561.1:n.308+1136C>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381528
  ensembl transcript: ENST00000398516
  gene symbol: SLC26A1
  hgvsc: ENST00000398516.2:c.1854G>T
  hgvsp: ENST00000398516.2:c.1854G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000508168
  gene symbol: IDUA
  hgvsc: ENST00000508168.1:n.177+1843C>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000424847
  ensembl transcript: ENST00000504568
  gene symbol: IDUA
  hgvsc: ENST00000504568.1:c.259+1174C>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000509744
  gene symbol: IDUA
  hgvsc: ENST00000509744.1:n.36-146C>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000247933
  ensembl transcript: ENST00000247933
  gene symbol: IDUA
  hgvsc: ENST00000247933.4:c.299+1136C>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000396458
  ensembl transcript: ENST00000453894
  gene symbol: IDUA
  hgvsc: ENST00000453894.1:c.158+1843C>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000514698
  gene symbol: IDUA
  hgvsc: ENST00000514698.1:n.199+1843C>A
  variant of: http://identifiers.org/hgnc/5391
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6389
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4437
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17650
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22241
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5051
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2950
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 9.25e1
  variant carriers: 1
hgvs: p.Pro618Pro
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD

4-982873-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 982873
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 982873
    reference: chr 4
allele count: 6
allele frequency: 9.206690194874942e-5
allele num: 65170
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000508168
  gene symbol: IDUA
  hgvsc: ENST00000508168.1:n.177+1843C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000354721
  ensembl transcript: ENST00000361661
  gene symbol: SLC26A1
  hgvsc: ENST00000361661.2:c.1854G>A
  hgvsp: ENST00000361661.2:c.1854G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381528
  ensembl transcript: ENST00000398516
  gene symbol: SLC26A1
  hgvsc: ENST00000398516.2:c.1854G>A
  hgvsp: ENST00000398516.2:c.1854G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000509744
  gene symbol: IDUA
  hgvsc: ENST00000509744.1:n.36-146C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381532
  ensembl transcript: ENST00000398520
  gene symbol: SLC26A1
  hgvsc: ENST00000398520.2:c.576+2043G>A
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000424847
  ensembl transcript: ENST00000504568
  gene symbol: IDUA
  hgvsc: ENST00000504568.1:c.259+1174C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000247933
  ensembl transcript: ENST00000247933
  gene symbol: IDUA
  hgvsc: ENST00000247933.4:c.299+1136C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000514698
  gene symbol: IDUA
  hgvsc: ENST00000514698.1:n.199+1843C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000422952
  ensembl transcript: ENST00000502910
  gene symbol: IDUA
  hgvsc: ENST00000502910.1:c.158+1843C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000396458
  ensembl transcript: ENST00000453894
  gene symbol: IDUA
  hgvsc: ENST00000453894.1:c.158+1843C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000506561
  gene symbol: IDUA
  hgvsc: ENST00000506561.1:n.308+1136C>T
  variant of: http://identifiers.org/hgnc/5391
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6389
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5051
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2950
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22241
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4437
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17650
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1208
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro618Pro
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD

4-982878-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 982878
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 982878
    reference: chr 4
allele count: 4
allele frequency: 6.001320290463902e-5
allele num: 66652
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000424847
  ensembl transcript: ENST00000504568
  gene symbol: IDUA
  hgvsc: ENST00000504568.1:c.259+1179C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381532
  ensembl transcript: ENST00000398520
  gene symbol: SLC26A1
  hgvsc: ENST00000398520.2:c.576+2038G>A
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000247933
  ensembl transcript: ENST00000247933
  gene symbol: IDUA
  hgvsc: ENST00000247933.4:c.299+1141C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000509744
  gene symbol: IDUA
  hgvsc: ENST00000509744.1:n.36-141C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000396458
  ensembl transcript: ENST00000453894
  gene symbol: IDUA
  hgvsc: ENST00000453894.1:c.158+1848C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000514698
  gene symbol: IDUA
  hgvsc: ENST00000514698.1:n.199+1848C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381528
  ensembl transcript: ENST00000398516
  gene symbol: SLC26A1
  hgvsc: ENST00000398516.2:c.1849G>A
  hgvsp: ENSP00000381528.2:p.Ala617Thr
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000354721
  ensembl transcript: ENST00000361661
  gene symbol: SLC26A1
  hgvsc: ENST00000361661.2:c.1849G>A
  hgvsp: ENSP00000354721.2:p.Ala617Thr
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000506561
  gene symbol: IDUA
  hgvsc: ENST00000506561.1:n.308+1141C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000508168
  gene symbol: IDUA
  hgvsc: ENST00000508168.1:n.177+1848C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000422952
  ensembl transcript: ENST00000502910
  gene symbol: IDUA
  hgvsc: ENST00000502910.1:c.158+1848C>T
  variant of: http://identifiers.org/hgnc/5391
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17175
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7799
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22044
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4630
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2997
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala617Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ

4-982879-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 982879
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 982879
    reference: chr 4
allele count: 27
allele frequency: 4.03478884605039e-4
allele num: 66918
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000424847
  ensembl transcript: ENST00000504568
  gene symbol: IDUA
  hgvsc: ENST00000504568.1:c.259+1180G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000354721
  ensembl transcript: ENST00000361661
  gene symbol: SLC26A1
  hgvsc: ENST00000361661.2:c.1848C>T
  hgvsp: ENST00000361661.2:c.1848C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000422952
  ensembl transcript: ENST00000502910
  gene symbol: IDUA
  hgvsc: ENST00000502910.1:c.158+1849G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381532
  ensembl transcript: ENST00000398520
  gene symbol: SLC26A1
  hgvsc: ENST00000398520.2:c.576+2037C>T
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000396458
  ensembl transcript: ENST00000453894
  gene symbol: IDUA
  hgvsc: ENST00000453894.1:c.158+1849G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000508168
  gene symbol: IDUA
  hgvsc: ENST00000508168.1:n.177+1849G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000514698
  gene symbol: IDUA
  hgvsc: ENST00000514698.1:n.199+1849G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381528
  ensembl transcript: ENST00000398516
  gene symbol: SLC26A1
  hgvsc: ENST00000398516.2:c.1848C>T
  hgvsp: ENST00000398516.2:c.1848C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000247933
  ensembl transcript: ENST00000247933
  gene symbol: IDUA
  hgvsc: ENST00000247933.4:c.299+1142G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000509744
  gene symbol: IDUA
  hgvsc: ENST00000509744.1:n.36-140G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000506561
  gene symbol: IDUA
  hgvsc: ENST00000506561.1:n.308+1142G>A
  variant of: http://identifiers.org/hgnc/5391
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4538
  bin: 1.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21926
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 16927
  bin: 1.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3992
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3079
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8299
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1071
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Cys616Cys
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

4-982880-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 982880
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 982880
    reference: chr 4
allele count: 1
allele frequency: 1.477148512511448e-5
allele num: 67698
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381528
  ensembl transcript: ENST00000398516
  gene symbol: SLC26A1
  hgvsc: ENST00000398516.2:c.1847G>C
  hgvsp: ENSP00000381528.2:p.Cys616Ser
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000424847
  ensembl transcript: ENST00000504568
  gene symbol: IDUA
  hgvsc: ENST00000504568.1:c.259+1181C>G
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000396458
  ensembl transcript: ENST00000453894
  gene symbol: IDUA
  hgvsc: ENST00000453894.1:c.158+1850C>G
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000506561
  gene symbol: IDUA
  hgvsc: ENST00000506561.1:n.308+1143C>G
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000508168
  gene symbol: IDUA
  hgvsc: ENST00000508168.1:n.177+1850C>G
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000422952
  ensembl transcript: ENST00000502910
  gene symbol: IDUA
  hgvsc: ENST00000502910.1:c.158+1850C>G
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000509744
  gene symbol: IDUA
  hgvsc: ENST00000509744.1:n.36-139C>G
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381532
  ensembl transcript: ENST00000398520
  gene symbol: SLC26A1
  hgvsc: ENST00000398520.2:c.576+2036G>C
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000354721
  ensembl transcript: ENST00000361661
  gene symbol: SLC26A1
  hgvsc: ENST00000361661.2:c.1847G>C
  hgvsp: ENSP00000354721.2:p.Cys616Ser
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000247933
  ensembl transcript: ENST00000247933
  gene symbol: IDUA
  hgvsc: ENST00000247933.4:c.299+1143C>G
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000514698
  gene symbol: IDUA
  hgvsc: ENST00000514698.1:n.199+1850C>G
  variant of: http://identifiers.org/hgnc/5391
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3938
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8613
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4428
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3115
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21874
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16797
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5973
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Cys616Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

4-982882-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 982882
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 982882
    reference: chr 4
allele count: 2
allele frequency: 2.92654375182909e-5
allele num: 68340
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000509744
  gene symbol: IDUA
  hgvsc: ENST00000509744.1:n.36-137G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381532
  ensembl transcript: ENST00000398520
  gene symbol: SLC26A1
  hgvsc: ENST00000398520.2:c.576+2034C>T
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000422952
  ensembl transcript: ENST00000502910
  gene symbol: IDUA
  hgvsc: ENST00000502910.1:c.158+1852G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381528
  ensembl transcript: ENST00000398516
  gene symbol: SLC26A1
  hgvsc: ENST00000398516.2:c.1845C>T
  hgvsp: ENST00000398516.2:c.1845C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000424847
  ensembl transcript: ENST00000504568
  gene symbol: IDUA
  hgvsc: ENST00000504568.1:c.259+1183G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000396458
  ensembl transcript: ENST00000453894
  gene symbol: IDUA
  hgvsc: ENST00000453894.1:c.158+1852G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000247933
  ensembl transcript: ENST00000247933
  gene symbol: IDUA
  hgvsc: ENST00000247933.4:c.299+1145G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000508168
  gene symbol: IDUA
  hgvsc: ENST00000508168.1:n.177+1852G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000354721
  ensembl transcript: ENST00000361661
  gene symbol: SLC26A1
  hgvsc: ENST00000361661.2:c.1845C>T
  hgvsp: ENST00000361661.2:c.1845C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000506561
  gene symbol: IDUA
  hgvsc: ENST00000506561.1:n.308+1145G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000514698
  gene symbol: IDUA
  hgvsc: ENST00000514698.1:n.199+1852G>A
  variant of: http://identifiers.org/hgnc/5391
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3746
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9699
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3180
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21774
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16289
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4091
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 7.75e1
  variant carriers: 1
hgvs: p.Asp615Asp
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

4-982884-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 982884
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 982884
    reference: chr 4
allele count: 4
allele frequency: 5.841121495327103e-5
allele num: 68480
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000509744
  gene symbol: IDUA
  hgvsc: ENST00000509744.1:n.36-135C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381528
  ensembl transcript: ENST00000398516
  gene symbol: SLC26A1
  hgvsc: ENST00000398516.2:c.1843G>A
  hgvsp: ENSP00000381528.2:p.Asp615Asn
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000247933
  ensembl transcript: ENST00000247933
  gene symbol: IDUA
  hgvsc: ENST00000247933.4:c.299+1147C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000514698
  gene symbol: IDUA
  hgvsc: ENST00000514698.1:n.199+1854C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381532
  ensembl transcript: ENST00000398520
  gene symbol: SLC26A1
  hgvsc: ENST00000398520.2:c.576+2032G>A
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000506561
  gene symbol: IDUA
  hgvsc: ENST00000506561.1:n.308+1147C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000354721
  ensembl transcript: ENST00000361661
  gene symbol: SLC26A1
  hgvsc: ENST00000361661.2:c.1843G>A
  hgvsp: ENSP00000354721.2:p.Asp615Asn
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000424847
  ensembl transcript: ENST00000504568
  gene symbol: IDUA
  hgvsc: ENST00000504568.1:c.259+1185C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000396458
  ensembl transcript: ENST00000453894
  gene symbol: IDUA
  hgvsc: ENST00000453894.1:c.158+1854C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000508168
  gene symbol: IDUA
  hgvsc: ENST00000508168.1:n.177+1854C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000422952
  ensembl transcript: ENST00000502910
  gene symbol: IDUA
  hgvsc: ENST00000502910.1:c.158+1854C>T
  variant of: http://identifiers.org/hgnc/5391
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21502
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3977
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3631
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15955
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10438
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3797
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp615Asn
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

4-982894-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 982894
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 982894
    reference: chr 4
allele count: 2
allele frequency: 2.744161795779479e-5
allele num: 72882
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000508168
  gene symbol: IDUA
  hgvsc: ENST00000508168.1:n.177+1864T>C
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000396458
  ensembl transcript: ENST00000453894
  gene symbol: IDUA
  hgvsc: ENST00000453894.1:c.158+1864T>C
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000247933
  ensembl transcript: ENST00000247933
  gene symbol: IDUA
  hgvsc: ENST00000247933.4:c.299+1157T>C
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000422952
  ensembl transcript: ENST00000502910
  gene symbol: IDUA
  hgvsc: ENST00000502910.1:c.158+1864T>C
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000509744
  gene symbol: IDUA
  hgvsc: ENST00000509744.1:n.36-125T>C
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000506561
  gene symbol: IDUA
  hgvsc: ENST00000506561.1:n.308+1157T>C
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000354721
  ensembl transcript: ENST00000361661
  gene symbol: SLC26A1
  hgvsc: ENST00000361661.2:c.1833A>G
  hgvsp: ENST00000361661.2:c.1833A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381532
  ensembl transcript: ENST00000398520
  gene symbol: SLC26A1
  hgvsc: ENST00000398520.2:c.576+2022A>G
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381528
  ensembl transcript: ENST00000398516
  gene symbol: SLC26A1
  hgvsc: ENST00000398516.2:c.1833A>G
  hgvsp: ENST00000398516.2:c.1833A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000424847
  ensembl transcript: ENST00000504568
  gene symbol: IDUA
  hgvsc: ENST00000504568.1:c.259+1195T>C
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000514698
  gene symbol: IDUA
  hgvsc: ENST00000514698.1:n.199+1864T>C
  variant of: http://identifiers.org/hgnc/5391
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14485
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13596
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3036
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3619
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3769
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 906
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr611Thr
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP

4-982896-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 982896
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 982896
    reference: chr 4
allele count: 1
allele frequency: 1.368176221097277e-5
allele num: 73090
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000506561
  gene symbol: IDUA
  hgvsc: ENST00000506561.1:n.308+1159T>C
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000514698
  gene symbol: IDUA
  hgvsc: ENST00000514698.1:n.199+1866T>C
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381528
  ensembl transcript: ENST00000398516
  gene symbol: SLC26A1
  hgvsc: ENST00000398516.2:c.1831A>G
  hgvsp: ENSP00000381528.2:p.Thr611Ala
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381532
  ensembl transcript: ENST00000398520
  gene symbol: SLC26A1
  hgvsc: ENST00000398520.2:c.576+2020A>G
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000247933
  ensembl transcript: ENST00000247933
  gene symbol: IDUA
  hgvsc: ENST00000247933.4:c.299+1159T>C
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000354721
  ensembl transcript: ENST00000361661
  gene symbol: SLC26A1
  hgvsc: ENST00000361661.2:c.1831A>G
  hgvsp: ENSP00000354721.2:p.Thr611Ala
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000396458
  ensembl transcript: ENST00000453894
  gene symbol: IDUA
  hgvsc: ENST00000453894.1:c.158+1866T>C
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000509744
  gene symbol: IDUA
  hgvsc: ENST00000509744.1:n.36-123T>C
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000422952
  ensembl transcript: ENST00000502910
  gene symbol: IDUA
  hgvsc: ENST00000502910.1:c.158+1866T>C
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000424847
  ensembl transcript: ENST00000504568
  gene symbol: IDUA
  hgvsc: ENST00000504568.1:c.259+1197T>C
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000508168
  gene symbol: IDUA
  hgvsc: ENST00000508168.1:n.177+1866T>C
  variant of: http://identifiers.org/hgnc/5391
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13439
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3690
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3025
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4045
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19982
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14481
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3292
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr611Ala
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD

4-982897-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 982897
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 982897
    reference: chr 4
allele count: 2
allele frequency: 2.735529051318525e-5
allele num: 73112
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000422952
  ensembl transcript: ENST00000502910
  gene symbol: IDUA
  hgvsc: ENST00000502910.1:c.158+1867G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381532
  ensembl transcript: ENST00000398520
  gene symbol: SLC26A1
  hgvsc: ENST00000398520.2:c.576+2019C>T
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000508168
  gene symbol: IDUA
  hgvsc: ENST00000508168.1:n.177+1867G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000247933
  ensembl transcript: ENST00000247933
  gene symbol: IDUA
  hgvsc: ENST00000247933.4:c.299+1160G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000509744
  gene symbol: IDUA
  hgvsc: ENST00000509744.1:n.36-122G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000514698
  gene symbol: IDUA
  hgvsc: ENST00000514698.1:n.199+1867G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000424847
  ensembl transcript: ENST00000504568
  gene symbol: IDUA
  hgvsc: ENST00000504568.1:c.259+1198G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000506561
  gene symbol: IDUA
  hgvsc: ENST00000506561.1:n.308+1160G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381528
  ensembl transcript: ENST00000398516
  gene symbol: SLC26A1
  hgvsc: ENST00000398516.2:c.1830C>T
  hgvsp: ENST00000398516.2:c.1830C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000354721
  ensembl transcript: ENST00000361661
  gene symbol: SLC26A1
  hgvsc: ENST00000361661.2:c.1830C>T
  hgvsp: ENST00000361661.2:c.1830C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000396458
  ensembl transcript: ENST00000453894
  gene symbol: IDUA
  hgvsc: ENST00000453894.1:c.158+1867G>A
  variant of: http://identifiers.org/hgnc/5391
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19859
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3031
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4154
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3749
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13391
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14448
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3311
  bin: 7.5e0
  variant carriers: 0
hgvs: p.His610His
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

4-982899-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 982899
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 982899
    reference: chr 4
allele count: 1
allele frequency: 1.356410395529271e-5
allele num: 73724
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000506561
  gene symbol: IDUA
  hgvsc: ENST00000506561.1:n.308+1162G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381528
  ensembl transcript: ENST00000398516
  gene symbol: SLC26A1
  hgvsc: ENST00000398516.2:c.1828C>T
  hgvsp: ENSP00000381528.2:p.His610Tyr
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000396458
  ensembl transcript: ENST00000453894
  gene symbol: IDUA
  hgvsc: ENST00000453894.1:c.158+1869G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000509744
  gene symbol: IDUA
  hgvsc: ENST00000509744.1:n.36-120G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000508168
  gene symbol: IDUA
  hgvsc: ENST00000508168.1:n.177+1869G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000354721
  ensembl transcript: ENST00000361661
  gene symbol: SLC26A1
  hgvsc: ENST00000361661.2:c.1828C>T
  hgvsp: ENSP00000354721.2:p.His610Tyr
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000247933
  ensembl transcript: ENST00000247933
  gene symbol: IDUA
  hgvsc: ENST00000247933.4:c.299+1162G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381532
  ensembl transcript: ENST00000398520
  gene symbol: SLC26A1
  hgvsc: ENST00000398520.2:c.576+2017C>T
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000424847
  ensembl transcript: ENST00000504568
  gene symbol: IDUA
  hgvsc: ENST00000504568.1:c.259+1200G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000422952
  ensembl transcript: ENST00000502910
  gene symbol: IDUA
  hgvsc: ENST00000502910.1:c.158+1869G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000514698
  gene symbol: IDUA
  hgvsc: ENST00000514698.1:n.199+1869G>A
  variant of: http://identifiers.org/hgnc/5391
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4232
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19603
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2987
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3876
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13231
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14667
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 5.75e1
  variant carriers: 0
hgvs: p.His610Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

4-982901-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 982901
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 982901
    reference: chr 4
allele count: 1
allele frequency: 1.346329904679843e-5
allele num: 74276
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000509744
  gene symbol: IDUA
  hgvsc: ENST00000509744.1:n.36-118A>G
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000514698
  gene symbol: IDUA
  hgvsc: ENST00000514698.1:n.199+1871A>G
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000354721
  ensembl transcript: ENST00000361661
  gene symbol: SLC26A1
  hgvsc: ENST00000361661.2:c.1826T>C
  hgvsp: ENSP00000354721.2:p.Phe609Ser
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381528
  ensembl transcript: ENST00000398516
  gene symbol: SLC26A1
  hgvsc: ENST00000398516.2:c.1826T>C
  hgvsp: ENSP00000381528.2:p.Phe609Ser
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000508168
  gene symbol: IDUA
  hgvsc: ENST00000508168.1:n.177+1871A>G
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000424847
  ensembl transcript: ENST00000504568
  gene symbol: IDUA
  hgvsc: ENST00000504568.1:c.259+1202A>G
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000396458
  ensembl transcript: ENST00000453894
  gene symbol: IDUA
  hgvsc: ENST00000453894.1:c.158+1871A>G
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381532
  ensembl transcript: ENST00000398520
  gene symbol: SLC26A1
  hgvsc: ENST00000398520.2:c.576+2015T>C
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000422952
  ensembl transcript: ENST00000502910
  gene symbol: IDUA
  hgvsc: ENST00000502910.1:c.158+1871A>G
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000506561
  gene symbol: IDUA
  hgvsc: ENST00000506561.1:n.308+1164A>G
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000247933
  ensembl transcript: ENST00000247933
  gene symbol: IDUA
  hgvsc: ENST00000247933.4:c.299+1164A>G
  variant of: http://identifiers.org/hgnc/5391
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19401
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2977
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13062
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14914
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4269
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3954
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21435
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Phe609Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

http://identifiers.org/exac.variant/4-982902-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 982902
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 982902
    reference: chr 4
allele count: 1
allele frequency: 1.343111182743707e-5
allele num: 74454
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000509744
  gene symbol: IDUA
  hgvsc: ENST00000509744.1:n.36-117A>C
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000354721
  ensembl transcript: ENST00000361661
  gene symbol: SLC26A1
  hgvsc: ENST00000361661.2:c.1825T>G
  hgvsp: ENSP00000354721.2:p.Phe609Val
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381528
  ensembl transcript: ENST00000398516
  gene symbol: SLC26A1
  hgvsc: ENST00000398516.2:c.1825T>G
  hgvsp: ENSP00000381528.2:p.Phe609Val
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000424847
  ensembl transcript: ENST00000504568
  gene symbol: IDUA
  hgvsc: ENST00000504568.1:c.259+1203A>C
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000514698
  gene symbol: IDUA
  hgvsc: ENST00000514698.1:n.199+1872A>C
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000396458
  ensembl transcript: ENST00000453894
  gene symbol: IDUA
  hgvsc: ENST00000453894.1:c.158+1872A>C
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000508168
  gene symbol: IDUA
  hgvsc: ENST00000508168.1:n.177+1872A>C
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381532
  ensembl transcript: ENST00000398520
  gene symbol: SLC26A1
  hgvsc: ENST00000398520.2:c.576+2014T>G
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000247933
  ensembl transcript: ENST00000247933
  gene symbol: IDUA
  hgvsc: ENST00000247933.4:c.299+1165A>C
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000506561
  gene symbol: IDUA
  hgvsc: ENST00000506561.1:n.308+1165A>C
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000422952
  ensembl transcript: ENST00000502910
  gene symbol: IDUA
  hgvsc: ENST00000502910.1:c.158+1872A>C
  variant of: http://identifiers.org/hgnc/5391
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3991
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2972
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15140
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19295
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4253
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12920
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Phe609Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

4-982905-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 982905
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 982905
    reference: chr 4
allele count: 6
allele frequency: 7.973421926910299e-5
allele num: 75250
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000509744
  gene symbol: IDUA
  hgvsc: ENST00000509744.1:n.36-114C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381528
  ensembl transcript: ENST00000398516
  gene symbol: SLC26A1
  hgvsc: ENST00000398516.2:c.1822G>A
  hgvsp: ENSP00000381528.2:p.Gly608Ser
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000424847
  ensembl transcript: ENST00000504568
  gene symbol: IDUA
  hgvsc: ENST00000504568.1:c.259+1206C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381532
  ensembl transcript: ENST00000398520
  gene symbol: SLC26A1
  hgvsc: ENST00000398520.2:c.576+2011G>A
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000396458
  ensembl transcript: ENST00000453894
  gene symbol: IDUA
  hgvsc: ENST00000453894.1:c.158+1875C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000354721
  ensembl transcript: ENST00000361661
  gene symbol: SLC26A1
  hgvsc: ENST00000361661.2:c.1822G>A
  hgvsp: ENSP00000354721.2:p.Gly608Ser
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000506561
  gene symbol: IDUA
  hgvsc: ENST00000506561.1:n.308+1168C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000508168
  gene symbol: IDUA
  hgvsc: ENST00000508168.1:n.177+1875C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000247933
  ensembl transcript: ENST00000247933
  gene symbol: IDUA
  hgvsc: ENST00000247933.4:c.299+1168C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000514698
  gene symbol: IDUA
  hgvsc: ENST00000514698.1:n.199+1875C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000422952
  ensembl transcript: ENST00000502910
  gene symbol: IDUA
  hgvsc: ENST00000502910.1:c.158+1875C>T
  variant of: http://identifiers.org/hgnc/5391
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2949
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18697
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4445
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12665
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15512
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4247
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14215
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly608Ser
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

4-982906-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 982906
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 982906
    reference: chr 4
allele count: 1
allele frequency: 1.308660716622608e-5
allele num: 76414
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000509744
  gene symbol: IDUA
  hgvsc: ENST00000509744.1:n.36-113G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381532
  ensembl transcript: ENST00000398520
  gene symbol: SLC26A1
  hgvsc: ENST00000398520.2:c.576+2010C>T
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000424847
  ensembl transcript: ENST00000504568
  gene symbol: IDUA
  hgvsc: ENST00000504568.1:c.259+1207G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000506561
  gene symbol: IDUA
  hgvsc: ENST00000506561.1:n.308+1169G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000396458
  ensembl transcript: ENST00000453894
  gene symbol: IDUA
  hgvsc: ENST00000453894.1:c.158+1876G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381528
  ensembl transcript: ENST00000398516
  gene symbol: SLC26A1
  hgvsc: ENST00000398516.2:c.1821C>T
  hgvsp: ENST00000398516.2:c.1821C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000247933
  ensembl transcript: ENST00000247933
  gene symbol: IDUA
  hgvsc: ENST00000247933.4:c.299+1169G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000508168
  gene symbol: IDUA
  hgvsc: ENST00000508168.1:n.177+1876G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000514698
  gene symbol: IDUA
  hgvsc: ENST00000514698.1:n.199+1876G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000354721
  ensembl transcript: ENST00000361661
  gene symbol: SLC26A1
  hgvsc: ENST00000361661.2:c.1821C>T
  hgvsp: ENST00000361661.2:c.1821C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000422952
  ensembl transcript: ENST00000502910
  gene symbol: IDUA
  hgvsc: ENST00000502910.1:c.158+1876G>A
  variant of: http://identifiers.org/hgnc/5391
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16355
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4323
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12244
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4501
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2873
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18212
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1369
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala607Ala
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

4-982909-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 982909
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 982909
    reference: chr 4
allele count: 11
allele frequency: 1.400952647800504e-4
allele num: 78518
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381528
  ensembl transcript: ENST00000398516
  gene symbol: SLC26A1
  hgvsc: ENST00000398516.2:c.1818G>A
  hgvsp: ENST00000398516.2:c.1818G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000509744
  gene symbol: IDUA
  hgvsc: ENST00000509744.1:n.36-110C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381532
  ensembl transcript: ENST00000398520
  gene symbol: SLC26A1
  hgvsc: ENST00000398520.2:c.576+2007G>A
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000354721
  ensembl transcript: ENST00000361661
  gene symbol: SLC26A1
  hgvsc: ENST00000361661.2:c.1818G>A
  hgvsp: ENST00000361661.2:c.1818G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000422952
  ensembl transcript: ENST00000502910
  gene symbol: IDUA
  hgvsc: ENST00000502910.1:c.158+1879C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000506561
  gene symbol: IDUA
  hgvsc: ENST00000506561.1:n.308+1172C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000514698
  gene symbol: IDUA
  hgvsc: ENST00000514698.1:n.199+1879C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000396458
  ensembl transcript: ENST00000453894
  gene symbol: IDUA
  hgvsc: ENST00000453894.1:c.158+1879C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000247933
  ensembl transcript: ENST00000247933
  gene symbol: IDUA
  hgvsc: ENST00000247933.4:c.299+1172C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000424847
  ensembl transcript: ENST00000504568
  gene symbol: IDUA
  hgvsc: ENST00000504568.1:c.259+1210C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000508168
  gene symbol: IDUA
  hgvsc: ENST00000508168.1:n.177+1879C>T
  variant of: http://identifiers.org/hgnc/5391
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4086
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17619
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11655
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4803
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17504
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19984
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala606Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

4-982910-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 982910
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 982910
    reference: chr 4
allele count: 8
allele frequency: 1.002782722053699e-4
allele num: 79778
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000509744
  gene symbol: IDUA
  hgvsc: ENST00000509744.1:n.36-109G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000422952
  ensembl transcript: ENST00000502910
  gene symbol: IDUA
  hgvsc: ENST00000502910.1:c.158+1880G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000424847
  ensembl transcript: ENST00000504568
  gene symbol: IDUA
  hgvsc: ENST00000504568.1:c.259+1211G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000506561
  gene symbol: IDUA
  hgvsc: ENST00000506561.1:n.308+1173G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000514698
  gene symbol: IDUA
  hgvsc: ENST00000514698.1:n.199+1880G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381528
  ensembl transcript: ENST00000398516
  gene symbol: SLC26A1
  hgvsc: ENST00000398516.2:c.1817C>T
  hgvsp: ENSP00000381528.2:p.Ala606Val
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000247933
  ensembl transcript: ENST00000247933
  gene symbol: IDUA
  hgvsc: ENST00000247933.4:c.299+1173G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000396458
  ensembl transcript: ENST00000453894
  gene symbol: IDUA
  hgvsc: ENST00000453894.1:c.158+1880G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000354721
  ensembl transcript: ENST00000361661
  gene symbol: SLC26A1
  hgvsc: ENST00000361661.2:c.1817C>T
  hgvsp: ENSP00000354721.2:p.Ala606Val
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000508168
  gene symbol: IDUA
  hgvsc: ENST00000508168.1:n.177+1880G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381532
  ensembl transcript: ENST00000398520
  gene symbol: SLC26A1
  hgvsc: ENST00000398520.2:c.576+2006C>T
  variant of: http://identifiers.org/hgnc/10993
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4976
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11063
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2720
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16830
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18864
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3928
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala606Val
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

4-982913-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 982913
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 982913
    reference: chr 4
allele count: 1
allele frequency: 1.228108957826738e-5
allele num: 81426
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000506561
  gene symbol: IDUA
  hgvsc: ENST00000506561.1:n.308+1176G>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000514698
  gene symbol: IDUA
  hgvsc: ENST00000514698.1:n.199+1883G>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000396458
  ensembl transcript: ENST00000453894
  gene symbol: IDUA
  hgvsc: ENST00000453894.1:c.158+1883G>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000354721
  ensembl transcript: ENST00000361661
  gene symbol: SLC26A1
  hgvsc: ENST00000361661.2:c.1814C>A
  hgvsp: ENSP00000354721.2:p.Ala605Glu
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000508168
  gene symbol: IDUA
  hgvsc: ENST00000508168.1:n.177+1883G>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000422952
  ensembl transcript: ENST00000502910
  gene symbol: IDUA
  hgvsc: ENST00000502910.1:c.158+1883G>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381532
  ensembl transcript: ENST00000398520
  gene symbol: SLC26A1
  hgvsc: ENST00000398520.2:c.576+2003C>A
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381528
  ensembl transcript: ENST00000398516
  gene symbol: SLC26A1
  hgvsc: ENST00000398516.2:c.1814C>A
  hgvsp: ENSP00000381528.2:p.Ala605Glu
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000509744
  gene symbol: IDUA
  hgvsc: ENST00000509744.1:n.36-106G>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000424847
  ensembl transcript: ENST00000504568
  gene symbol: IDUA
  hgvsc: ENST00000504568.1:c.259+1214G>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000247933
  ensembl transcript: ENST00000247933
  gene symbol: IDUA
  hgvsc: ENST00000247933.4:c.299+1176G>T
  variant of: http://identifiers.org/hgnc/5391
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10572
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2702
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19787
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5213
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1359
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala605Glu
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP

4-982914-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 982914
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 982914
    reference: chr 4
allele count: 1
allele frequency: 1.224769743288262e-5
allele num: 81648
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000422952
  ensembl transcript: ENST00000502910
  gene symbol: IDUA
  hgvsc: ENST00000502910.1:c.158+1884C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000508168
  gene symbol: IDUA
  hgvsc: ENST00000508168.1:n.177+1884C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000247933
  ensembl transcript: ENST00000247933
  gene symbol: IDUA
  hgvsc: ENST00000247933.4:c.299+1177C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000424847
  ensembl transcript: ENST00000504568
  gene symbol: IDUA
  hgvsc: ENST00000504568.1:c.259+1215C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000354721
  ensembl transcript: ENST00000361661
  gene symbol: SLC26A1
  hgvsc: ENST00000361661.2:c.1813G>A
  hgvsp: ENSP00000354721.2:p.Ala605Thr
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000509744
  gene symbol: IDUA
  hgvsc: ENST00000509744.1:n.36-105C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000396458
  ensembl transcript: ENST00000453894
  gene symbol: IDUA
  hgvsc: ENST00000453894.1:c.158+1884C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000506561
  gene symbol: IDUA
  hgvsc: ENST00000506561.1:n.308+1177C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381528
  ensembl transcript: ENST00000398516
  gene symbol: SLC26A1
  hgvsc: ENST00000398516.2:c.1813G>A
  hgvsp: ENSP00000381528.2:p.Ala605Thr
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000514698
  gene symbol: IDUA
  hgvsc: ENST00000514698.1:n.199+1884C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381532
  ensembl transcript: ENST00000398520
  gene symbol: SLC26A1
  hgvsc: ENST00000398520.2:c.576+2002G>A
  variant of: http://identifiers.org/hgnc/10993
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15817
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4051
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10410
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19938
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5384
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2778
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala605Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

4-982915-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 982915
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 982915
    reference: chr 4
allele count: 5
allele frequency: 6.04814322003145e-5
allele num: 82670
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381528
  ensembl transcript: ENST00000398516
  gene symbol: SLC26A1
  hgvsc: ENST00000398516.2:c.1812C>T
  hgvsp: ENST00000398516.2:c.1812C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000247933
  ensembl transcript: ENST00000247933
  gene symbol: IDUA
  hgvsc: ENST00000247933.4:c.299+1178G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381532
  ensembl transcript: ENST00000398520
  gene symbol: SLC26A1
  hgvsc: ENST00000398520.2:c.576+2001C>T
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000506561
  gene symbol: IDUA
  hgvsc: ENST00000506561.1:n.308+1178G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000509744
  gene symbol: IDUA
  hgvsc: ENST00000509744.1:n.36-104G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000424847
  ensembl transcript: ENST00000504568
  gene symbol: IDUA
  hgvsc: ENST00000504568.1:c.259+1216G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000396458
  ensembl transcript: ENST00000453894
  gene symbol: IDUA
  hgvsc: ENST00000453894.1:c.158+1885G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000422952
  ensembl transcript: ENST00000502910
  gene symbol: IDUA
  hgvsc: ENST00000502910.1:c.158+1885G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000508168
  gene symbol: IDUA
  hgvsc: ENST00000508168.1:n.177+1885G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000354721
  ensembl transcript: ENST00000361661
  gene symbol: SLC26A1
  hgvsc: ENST00000361661.2:c.1812C>T
  hgvsp: ENST00000361661.2:c.1812C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000514698
  gene symbol: IDUA
  hgvsc: ENST00000514698.1:n.199+1885G>A
  variant of: http://identifiers.org/hgnc/5391
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5540
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3969
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15434
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2649
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20548
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10144
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17725
  bin: 2.25e1
  variant carriers: 2
hgvs: p.Pro604Pro
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/4-982924-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 982924
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 982924
    reference: chr 4
allele count: 1
allele frequency: 1.149319602795145e-5
allele num: 87008
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381532
  ensembl transcript: ENST00000398520
  gene symbol: SLC26A1
  hgvsc: ENST00000398520.2:c.576+1992G>T
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000506561
  gene symbol: IDUA
  hgvsc: ENST00000506561.1:n.308+1187C>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000396458
  ensembl transcript: ENST00000453894
  gene symbol: IDUA
  hgvsc: ENST00000453894.1:c.158+1894C>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000509744
  gene symbol: IDUA
  hgvsc: ENST00000509744.1:n.36-95C>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000514698
  gene symbol: IDUA
  hgvsc: ENST00000514698.1:n.199+1894C>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000354721
  ensembl transcript: ENST00000361661
  gene symbol: SLC26A1
  hgvsc: ENST00000361661.2:c.1803G>T
  hgvsp: ENST00000361661.2:c.1803G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381528
  ensembl transcript: ENST00000398516
  gene symbol: SLC26A1
  hgvsc: ENST00000398516.2:c.1803G>T
  hgvsp: ENST00000398516.2:c.1803G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000247933
  ensembl transcript: ENST00000247933
  gene symbol: IDUA
  hgvsc: ENST00000247933.4:c.299+1187C>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000422952
  ensembl transcript: ENST00000502910
  gene symbol: IDUA
  hgvsc: ENST00000502910.1:c.158+1894C>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000424847
  ensembl transcript: ENST00000504568
  gene symbol: IDUA
  hgvsc: ENST00000504568.1:c.259+1225C>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000508168
  gene symbol: IDUA
  hgvsc: ENST00000508168.1:n.177+1894C>A
  variant of: http://identifiers.org/hgnc/5391
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8988
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3835
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13644
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6223
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22976
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ala601Ala
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

4-982924-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 982924
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 982924
    reference: chr 4
allele count: 4
allele frequency: 4.597278411180581e-5
allele num: 87008
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000396458
  ensembl transcript: ENST00000453894
  gene symbol: IDUA
  hgvsc: ENST00000453894.1:c.158+1894C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381532
  ensembl transcript: ENST00000398520
  gene symbol: SLC26A1
  hgvsc: ENST00000398520.2:c.576+1992G>A
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381528
  ensembl transcript: ENST00000398516
  gene symbol: SLC26A1
  hgvsc: ENST00000398516.2:c.1803G>A
  hgvsp: ENST00000398516.2:c.1803G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000506561
  gene symbol: IDUA
  hgvsc: ENST00000506561.1:n.308+1187C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000422952
  ensembl transcript: ENST00000502910
  gene symbol: IDUA
  hgvsc: ENST00000502910.1:c.158+1894C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000509744
  gene symbol: IDUA
  hgvsc: ENST00000509744.1:n.36-95C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000354721
  ensembl transcript: ENST00000361661
  gene symbol: SLC26A1
  hgvsc: ENST00000361661.2:c.1803G>A
  hgvsp: ENST00000361661.2:c.1803G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000514698
  gene symbol: IDUA
  hgvsc: ENST00000514698.1:n.199+1894C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000247933
  ensembl transcript: ENST00000247933
  gene symbol: IDUA
  hgvsc: ENST00000247933.4:c.299+1187C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000508168
  gene symbol: IDUA
  hgvsc: ENST00000508168.1:n.177+1894C>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000424847
  ensembl transcript: ENST00000504568
  gene symbol: IDUA
  hgvsc: ENST00000504568.1:c.259+1225C>T
  variant of: http://identifiers.org/hgnc/5391
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22976
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13644
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6223
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8988
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3835
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1262
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala601Ala
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

4-982925-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 982925
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 982925
    reference: chr 4
allele count: 8
allele frequency: 9.130127137020383e-5
allele num: 87622
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381532
  ensembl transcript: ENST00000398520
  gene symbol: SLC26A1
  hgvsc: ENST00000398520.2:c.576+1991C>T
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000514698
  gene symbol: IDUA
  hgvsc: ENST00000514698.1:n.199+1895G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381528
  ensembl transcript: ENST00000398516
  gene symbol: SLC26A1
  hgvsc: ENST00000398516.2:c.1802C>T
  hgvsp: ENSP00000381528.2:p.Ala601Val
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000396458
  ensembl transcript: ENST00000453894
  gene symbol: IDUA
  hgvsc: ENST00000453894.1:c.158+1895G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000354721
  ensembl transcript: ENST00000361661
  gene symbol: SLC26A1
  hgvsc: ENST00000361661.2:c.1802C>T
  hgvsp: ENSP00000354721.2:p.Ala601Val
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000508168
  gene symbol: IDUA
  hgvsc: ENST00000508168.1:n.177+1895G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000422952
  ensembl transcript: ENST00000502910
  gene symbol: IDUA
  hgvsc: ENST00000502910.1:c.158+1895G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000424847
  ensembl transcript: ENST00000504568
  gene symbol: IDUA
  hgvsc: ENST00000504568.1:c.259+1226G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000506561
  gene symbol: IDUA
  hgvsc: ENST00000506561.1:n.308+1188G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000509744
  gene symbol: IDUA
  hgvsc: ENST00000509744.1:n.36-94G>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000247933
  ensembl transcript: ENST00000247933
  gene symbol: IDUA
  hgvsc: ENST00000247933.4:c.299+1188G>A
  variant of: http://identifiers.org/hgnc/5391
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6381
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2400
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13353
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3864
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8792
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23250
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 15453
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala601Val
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

4-982934-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 982934
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 982934
    reference: chr 4
allele count: 4
allele frequency: 4.340560366343295e-5
allele num: 92154
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000509744
  gene symbol: IDUA
  hgvsc: ENST00000509744.1:n.36-85G>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000514698
  gene symbol: IDUA
  hgvsc: ENST00000514698.1:n.199+1904G>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000422952
  ensembl transcript: ENST00000502910
  gene symbol: IDUA
  hgvsc: ENST00000502910.1:c.158+1904G>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000396458
  ensembl transcript: ENST00000453894
  gene symbol: IDUA
  hgvsc: ENST00000453894.1:c.158+1904G>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000506561
  gene symbol: IDUA
  hgvsc: ENST00000506561.1:n.308+1197G>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000354721
  ensembl transcript: ENST00000361661
  gene symbol: SLC26A1
  hgvsc: ENST00000361661.2:c.1793C>A
  hgvsp: ENSP00000354721.2:p.Thr598Asn
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000247933
  ensembl transcript: ENST00000247933
  gene symbol: IDUA
  hgvsc: ENST00000247933.4:c.299+1197G>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381532
  ensembl transcript: ENST00000398520
  gene symbol: SLC26A1
  hgvsc: ENST00000398520.2:c.576+1982C>A
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000424847
  ensembl transcript: ENST00000504568
  gene symbol: IDUA
  hgvsc: ENST00000504568.1:c.259+1235G>T
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381528
  ensembl transcript: ENST00000398516
  gene symbol: SLC26A1
  hgvsc: ENST00000398516.2:c.1793C>A
  hgvsp: ENSP00000381528.2:p.Thr598Asn
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000508168
  gene symbol: IDUA
  hgvsc: ENST00000508168.1:n.177+1904G>T
  variant of: http://identifiers.org/hgnc/5391
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7191
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7480
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11631
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2162
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25687
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3720
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr598Asn
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

4-982935-TGCTAACCGG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 982935
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 982926
    reference: chr 4
allele count: 1
allele frequency: 1.08208712965568e-5
allele num: 92414
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000422952
  ensembl transcript: ENST00000502910
  gene symbol: IDUA
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381532
  ensembl transcript: ENST00000398520
  gene symbol: SLC26A1
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000354721
  ensembl transcript: ENST00000361661
  gene symbol: SLC26A1
  hgvsp: ENSP00000354721.2:p.Pro595_Ser597del
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381528
  ensembl transcript: ENST00000398516
  gene symbol: SLC26A1
  hgvsp: ENSP00000381528.2:p.Pro595_Ser597del
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000424847
  ensembl transcript: ENST00000504568
  gene symbol: IDUA
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000396458
  ensembl transcript: ENST00000453894
  gene symbol: IDUA
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000247933
  ensembl transcript: ENST00000247933
  gene symbol: IDUA
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000509744
  gene symbol: IDUA
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000508168
  gene symbol: IDUA
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000506561
  gene symbol: IDUA
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000514698
  gene symbol: IDUA
  variant of: http://identifiers.org/hgnc/5391
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7327
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25825
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7460
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2131
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11436
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3673
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1769
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2558
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1170
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro595_Ser597del
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: TGCTAACCGG
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum

4-982938-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 982938
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 982938
    reference: chr 4
allele count: 2
allele frequency: 2.130152305889871e-5
allele num: 93890
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000247933
  ensembl transcript: ENST00000247933
  gene symbol: IDUA
  hgvsc: ENST00000247933.4:c.299+1201T>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381532
  ensembl transcript: ENST00000398520
  gene symbol: SLC26A1
  hgvsc: ENST00000398520.2:c.576+1978A>T
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000508168
  gene symbol: IDUA
  hgvsc: ENST00000508168.1:n.177+1908T>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000381528
  ensembl transcript: ENST00000398516
  gene symbol: SLC26A1
  hgvsc: ENST00000398516.2:c.1789A>T
  hgvsp: ENSP00000381528.2:p.Ser597Cys
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000514698
  gene symbol: IDUA
  hgvsc: ENST00000514698.1:n.199+1908T>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000422952
  ensembl transcript: ENST00000502910
  gene symbol: IDUA
  hgvsc: ENST00000502910.1:c.158+1908T>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000424847
  ensembl transcript: ENST00000504568
  gene symbol: IDUA
  hgvsc: ENST00000504568.1:c.259+1239T>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145217
  ensembl protein: ENSP00000354721
  ensembl transcript: ENST00000361661
  gene symbol: SLC26A1
  hgvsc: ENST00000361661.2:c.1789A>T
  hgvsp: ENSP00000354721.2:p.Ser597Cys
  variant of: http://identifiers.org/hgnc/10993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl protein: ENSP00000396458
  ensembl transcript: ENST00000453894
  gene symbol: IDUA
  hgvsc: ENST00000453894.1:c.158+1908T>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000509744
  gene symbol: IDUA
  hgvsc: ENST00000509744.1:n.36-81T>A
  variant of: http://identifiers.org/hgnc/5391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127415
  ensembl transcript: ENST00000506561
  gene symbol: IDUA
  hgvsc: ENST00000506561.1:n.308+1201T>A
  variant of: http://identifiers.org/hgnc/5391
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1867
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26409
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3617
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10948
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7608
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2059
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1189
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser597Cys
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 3197
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 30681
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1905
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4976
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1046
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 552
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2763
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8684
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 132
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2756
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.920560747663551e-4
allele num: 3424
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1484
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4742
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4318
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.348961821835231e-5
allele num: 29860
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10548
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.07403e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.34e-2

VQSLOD
type: SiteQuality
SIO_000300: -4.241e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.39e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.29e-1

FS
type: SiteQuality
SIO_000300: 6.455e0

MQRankSum
type: SiteQuality
SIO_000300: 6.74e-1

QD
type: SiteQuality
SIO_000300: 7.42e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.84e-1

GenotypeQuality
all individuals: 1655
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2680
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8823
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 398
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 102
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4977
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3156
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2816
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31094
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1126
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1045
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 427
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4226
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.956830277942046e-4
allele num: 3382
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1456
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4732
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29506
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10516
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.04396e5

MQ
type: SiteQuality
SIO_000300: 5.875e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.77e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.306e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.47e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.827e0

QD
type: SiteQuality
SIO_000300: 6.59e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.28e-2

GenotypeQuality
all individuals: 2567
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1085
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2632
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 31555
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8991
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1053
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1519
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3140
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 5.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 240
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4700
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4188
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10478
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1454
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29526
num of homozygotes: 0

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

East Asian
type: Population
allele count: 6
allele frequency: 1.777251184834123e-3
allele num: 3376
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.167e1

DP
type: SiteQuality
SIO_000300: 7.04463e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.4e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.22e-2

FS
type: SiteQuality
SIO_000300: 3.48e0

VQSLOD
type: SiteQuality
SIO_000300: 9.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.62e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1085
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1519
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2567
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3140
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4978
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 31555
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8991
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2632
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 9.75e1
variant carriers: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4700
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29526
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4188
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3376
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.54380606986066e-5
allele num: 10478
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1454
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.48e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.4e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.6e-2

DP
type: SiteQuality
SIO_000300: 7.04463e5

MQRankSum
type: SiteQuality
SIO_000300: 4.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 9.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.22e-2

QD
type: SiteQuality
SIO_000300: 1.167e1

GenotypeQuality
all individuals: 2618
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2219
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3126
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 258
bin: 7.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 381
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4933
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1063
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1453
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9204
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1052
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32039
bin: 2.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1468
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10484
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4186
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4714
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 6.760868095463458e-5
allele num: 29582
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.256e0

DP
type: SiteQuality
SIO_000300: 7.05227e5

MQRankSum
type: SiteQuality
SIO_000300: -9.78e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.63e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.27e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.659999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.35e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.56e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.74e0

GenotypeQuality
all individuals: 35
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2576
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1056
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3101
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4945
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1410
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9384
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32251
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1038
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2039
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3364
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29470
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1452
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4184
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4712
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.904399162064369e-4
allele num: 10502
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.261e0

DP
type: SiteQuality
SIO_000300: 7.06215e5

QD
type: SiteQuality
SIO_000300: 9.960000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: -1.313e0

MQ
type: SiteQuality
SIO_000300: 5.873e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.41e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.28e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.4e0

GenotypeQuality
all individuals: 1782
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 257
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9598
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 378
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 32684
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3052
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2509
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4971
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 310
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 966
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GenotypeQuality
all individuals: 103
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 438
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1442
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4156
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 3.012048192771085e-4
allele num: 3320
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10452
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29356
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4700
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.4e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.33e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.33e-1

DP
type: SiteQuality
SIO_000300: 7.06221e5

QD
type: SiteQuality
SIO_000300: 5.92e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.319e0

GenotypeQuality
all individuals: 3031
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.433594286499107e-5
allele num: 29124
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4090
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4706
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1442
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10444
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3286
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.23e-1

FS
type: SiteQuality
SIO_000300: 5.238e0

MQ
type: SiteQuality
SIO_000300: 5.82e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.32e-2

DP
type: SiteQuality
SIO_000300: 7.03383e5

VQSLOD
type: SiteQuality
SIO_000300: -1.498e0

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

QD
type: SiteQuality
SIO_000300: 1.895e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.307e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 240
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1438
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10454
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4700
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29098
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3328
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4080
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

DP
type: SiteQuality
SIO_000300: 7.01244e5

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.29e-2

QD
type: SiteQuality
SIO_000300: 8.98e0

VQSLOD
type: SiteQuality
SIO_000300: -3.477e-1

GenotypeQuality
all individuals: 103
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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variant carriers: 9

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 906
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4036
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3288
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1406
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 430
num of homozygotes: 0

African
type: Population
allele count: 8
allele frequency: 1.707941929974381e-3
allele num: 4684
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28840
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10434
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.022e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.77e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.44e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.33e0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.36e-2

DP
type: SiteQuality
SIO_000300: 6.96e5

QD
type: SiteQuality
SIO_000300: 1.27e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 260
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5522
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1032
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GenotypeQuality
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GenotypeQuality
all individuals: 2500
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GenotypeQuality
all individuals: 240
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GenotypeQuality
all individuals: 120
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variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28872
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4686
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4054
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10450
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 426
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1410
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.453e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.33e-2

VQSLOD
type: SiteQuality
SIO_000300: 9.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.45e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.51e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

DP
type: SiteQuality
SIO_000300: 6.96555e5

QD
type: SiteQuality
SIO_000300: 8.08e0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 264
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variant carriers: 4

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

GenotypeQuality
all individuals: 2582
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 5
allele frequency: 1.57035175879397e-3
allele num: 3184
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4572
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1330
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10412
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 428
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3918
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28216
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.49e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.56e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.65e-1

FS
type: SiteQuality
SIO_000300: 7.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.357e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.99e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.8311e5

QD
type: SiteQuality
SIO_000300: 7.76e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.3e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 36
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GenotypeQuality
all individuals: 276
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variant carriers: 16

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 426
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4578
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 7.485029940119761e-4
allele num: 1336
num of homozygotes: 0

South Asian
type: Population
allele count: 9
allele frequency: 8.637236084452975e-4
allele num: 10420
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 1.771290916820178e-4
allele num: 28228
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3936
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.154e0

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.45e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-2

DP
type: SiteQuality
SIO_000300: 6.83157e5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 31

GenotypeQuality
all individuals: 41
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GenotypeQuality
all individuals: 153
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 1.048767697954903e-3
allele num: 3814
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3104
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.629764065335753e-5
allele num: 27550
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4496
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1248
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South Asian
type: Population
allele count: 27
allele frequency: 2.61172373766686e-3
allele num: 10338
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

DP
type: SiteQuality
SIO_000300: 6.75529e5

QD
type: SiteQuality
SIO_000300: 1.062e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e-1

FS
type: SiteQuality
SIO_000300: 1.134e0

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.64e-2

VQSLOD
type: SiteQuality
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MQ
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MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1266
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 4502
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 27644
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

FS
type: SiteQuality
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MQ
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ClippingRankSum
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DP
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InbreedingCoeff
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SIO_000300: -1.6e-2

ReadPosRankSum
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BaseQRankSum
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VQSLOD
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MQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 3762
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele num: 27198
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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ClippingRankSum
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FS
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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DP
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VQSLOD
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BaseQRankSum
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QD
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MQ
type: SiteQuality
SIO_000300: 5.38e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

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

Other
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 7.590708972218005e-5
allele num: 26348
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
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SIO_000300: 5.46e-1

ReadPosRankSum
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SIO_000300: 2.96e-1

MQ
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DP
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QD
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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SIO_000300: -1.71e-2

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 3636
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

South Asian
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allele frequency: 0.0e0
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DP
type: SiteQuality
SIO_000300: 6.51237e5

ClippingRankSum
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InbreedingCoeff
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QD
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ReadPosRankSum
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SIO_000300: -4.21e-1

MQ
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VQSLOD
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FS
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
allele num: 2868
num of homozygotes: 0

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

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

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

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

South Asian
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allele num: 10110
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DP
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MQRankSum
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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FS
type: SiteQuality
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InbreedingCoeff
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QD
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

European (Finnish)
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African
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allele num: 4074
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South Asian
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QD
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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DP
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FS
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ReadPosRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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Latino
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allele frequency: 6.134969325153375e-4
allele num: 3260
num of homozygotes: 0

European (Finnish)
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East Asian
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South Asian
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Other
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FS
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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MQ
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DP
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BaseQRankSum
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MQRankSum
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VQSLOD
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
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num of homozygotes: 0

Other
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Latino
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 23658
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3910
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

FS
type: SiteQuality
SIO_000300: 5.073e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.27e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

DP
type: SiteQuality
SIO_000300: 6.08111e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

QD
type: SiteQuality
SIO_000300: 1.521e1

GenotypeQuality
all individuals: 1207
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 371
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GenotypeQuality
all individuals: 36
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3884
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3040
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 1.229508196721312e-3
allele num: 2440
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 356
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9708
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 23378
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.545e0

VQSLOD
type: SiteQuality
SIO_000300: -1.463e-1

DP
type: SiteQuality
SIO_000300: 6.06199e5

ClippingRankSum
type: SiteQuality
SIO_000300: -2.71e-1

FS
type: SiteQuality
SIO_000300: 1.206e0

QD
type: SiteQuality
SIO_000300: 7.98e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.31e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.12e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 154
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GenotypeQuality
all individuals: 5096
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 350
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3864
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2440
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 1.71777033410633e-4
allele num: 23286
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 3.282994090610637e-4
allele num: 3046
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9708
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.23e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.92e0

MQRankSum
type: SiteQuality
SIO_000300: 2.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

DP
type: SiteQuality
SIO_000300: 6.02945e5

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.220000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.37e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 5041
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variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3872
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3004
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 356
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 23140
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2426
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.029866117404737e-4
allele num: 9710
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.026e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.333e0

MQRankSum
type: SiteQuality
SIO_000300: -1.867e0

DP
type: SiteQuality
SIO_000300: 6.01048e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.23e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.330000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.358e1

GenotypeDepth
all individuals: 4405
bin: 2.25e1
variant carriers: 16

GenotypeDepth
all individuals: 42
bin: 4.75e1
variant carriers: 3

GenotypeQuality
all individuals: 822
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 24408
bin: 2.25e1
variant carriers: 3

GenotypeQuality
all individuals: 48
bin: 9.25e1
variant carriers: 12

GenotypeQuality
all individuals: 103
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variant carriers: 8

GenotypeQuality
all individuals: 414
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variant carriers: 1

GenotypeQuality
all individuals: 4900
bin: 6.25e1
variant carriers: 5

GenotypeQuality
all individuals: 3291
bin: 2.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1260
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variant carriers: 1

GenotypeQuality
all individuals: 10214
bin: 7.5e0
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GenotypeQuality
all individuals: 402
bin: 9.75e1
variant carriers: 145

GenotypeQuality
all individuals: 3912
bin: 1.25e1
variant carriers: 4

GenotypeQuality
all individuals: 829
bin: 6.75e1
variant carriers: 5

GenotypeQuality
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bin: 5.75e1
variant carriers: 6

GenotypeQuality
all individuals: 473
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variant carriers: 2

GenotypeQuality
all individuals: 228
bin: 7.25e1
variant carriers: 3

GenotypeQuality
all individuals: 353
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variant carriers: 3

GenotypeQuality
all individuals: 203
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 45
bin: 8.75e1
variant carriers: 6

Latino
type: Population
allele count: 12
allele frequency: 4.002668445630421e-3
allele num: 2998
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.589331952356292e-4
allele num: 3862
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2394
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 2.873563218390805e-3
allele num: 348
num of homozygotes: 0

South Asian
type: Population
allele count: 24
allele frequency: 2.477291494632535e-3
allele num: 9688
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 109
allele frequency: 4.715348676241564e-3
allele num: 23116
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.603e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.19e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 8.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.33e0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.38e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.00736e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

QD
type: SiteQuality
SIO_000300: 1.268e1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 39
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variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22658
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9588
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2326
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3822
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 344
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2938
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.65e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.31e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

FS
type: SiteQuality
SIO_000300: 3.012e0

DP
type: SiteQuality
SIO_000300: 5.9857e5

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 5
allele frequency: 2.140410958904109e-3
allele num: 2336
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2982
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3824
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 334
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.042752867570386e-4
allele num: 9590
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22756
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.83e0

FS
type: SiteQuality
SIO_000300: 1.724e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.26e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

DP
type: SiteQuality
SIO_000300: 5.98891e5

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

MQRankSum
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MQ
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SIO_000300: 6.0e1

BaseQRankSum
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SIO_000300: -3.11e-1

QD
type: SiteQuality
SIO_000300: 1.298e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 852
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variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 23236
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2366
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9662
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 944
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3082
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 338
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.583979328165374e-4
allele num: 3870
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.35e-1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.03e-2

FS
type: SiteQuality
SIO_000300: 4.17e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.11963e5

QD
type: SiteQuality
SIO_000300: 1.095e1

GenotypeQuality
all individuals: 450
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 28512
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GenotypeQuality
all individuals: 2768
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GenotypeQuality
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GenotypeQuality
all individuals: 229
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GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 873
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9736
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2414
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 23546
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 962
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 3.203074951953876e-4
allele num: 3122
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 340
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3884
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

DP
type: SiteQuality
SIO_000300: 6.14868e5

QD
type: SiteQuality
SIO_000300: 1.034e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.793e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.92e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.31e0

VQSLOD
type: SiteQuality
SIO_000300: 3.6e-2

GenotypeQuality
all individuals: 45
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3361
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variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 9.75e1
variant carriers: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3864
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2398
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 960
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.030502885408079e-4
allele num: 9704
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3104
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 23396
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.94e0

QD
type: SiteQuality
SIO_000300: 5.14e0

DP
type: SiteQuality
SIO_000300: 6.16253e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.99e-2

MQ
type: SiteQuality
SIO_000300: 5.922e1

MQRankSum
type: SiteQuality
SIO_000300: 8.04e-1

FS
type: SiteQuality
SIO_000300: 4.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5284
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GenotypeQuality
all individuals: 117
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3164
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9738
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 4.108463434675431e-4
allele num: 2434
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.234417344173442e-5
allele num: 23616
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 338
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 966
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.81e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.77e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.24e-1

QD
type: SiteQuality
SIO_000300: 1.134e1

DP
type: SiteQuality
SIO_000300: 6.19575e5

GenotypeQuality
all individuals: 7890
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 260
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3683
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variant carriers: 1

GenotypeQuality
all individuals: 2557
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4759
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
all individuals: 481
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GenotypeQuality
all individuals: 51
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variant carriers: 0

GenotypeQuality
all individuals: 126
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variant carriers: 0

GenotypeQuality
all individuals: 881
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 344
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3930
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3262
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9806
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2498
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1022
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24000
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.68e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -5.806e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 6.53e0

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

DP
type: SiteQuality
SIO_000300: 6.24996e5

GenotypeQuality
all individuals: 4755
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3644
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variant carriers: 0

GenotypeQuality
all individuals: 51
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GenotypeQuality
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GenotypeQuality
all individuals: 1689
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 553
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GenotypeQuality
all individuals: 3585
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variant carriers: 0

GenotypeQuality
all individuals: 132
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GenotypeQuality
all individuals: 509
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GenotypeQuality
all individuals: 273
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GenotypeQuality
all individuals: 7619
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GenotypeQuality
all individuals: 2369
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 474
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GenotypeQuality
all individuals: 277
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GenotypeQuality
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GenotypeQuality
all individuals: 258
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GenotypeQuality
all individuals: 676
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3352
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3954
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 346
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2542
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1070
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24370
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.31014e5

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.249e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.55e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

QD
type: SiteQuality
SIO_000300: 2.666e1

GenotypeQuality
all individuals: 1741
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 276
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 220
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GenotypeQuality
all individuals: 28623
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3679
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GenotypeQuality
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GenotypeQuality
all individuals: 299
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variant carriers: 0

GenotypeQuality
all individuals: 541
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24822
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3450
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2626
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3996
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9938
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 346
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1132
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.43e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.47e-1

DP
type: SiteQuality
SIO_000300: 6.40642e5

VQSLOD
type: SiteQuality
SIO_000300: -9.901e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.705e1

GenotypeQuality
all individuals: 856
bin: 6.75e1
variant carriers: 647

GenotypeQuality
all individuals: 2908
bin: 3.25e1
variant carriers: 2062

GenotypeQuality
all individuals: 3238
bin: 7.5e0
variant carriers: 535

GenotypeQuality
all individuals: 1326
bin: 5.25e1
variant carriers: 1199

GenotypeQuality
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bin: 2.5e0
variant carriers: 242

GenotypeQuality
all individuals: 997
bin: 4.25e1
variant carriers: 887

GenotypeQuality
all individuals: 2311
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variant carriers: 1424

GenotypeQuality
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variant carriers: 1923

GenotypeQuality
all individuals: 1987
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variant carriers: 1074

GenotypeQuality
all individuals: 986
bin: 8.25e1
variant carriers: 970

GenotypeQuality
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variant carriers: 668

GenotypeQuality
all individuals: 794
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variant carriers: 757

GenotypeQuality
all individuals: 1048
bin: 9.25e1
variant carriers: 1046

GenotypeQuality
all individuals: 1057
bin: 8.75e1
variant carriers: 1053

GenotypeQuality
all individuals: 1513
bin: 4.75e1
variant carriers: 1385

GenotypeQuality
all individuals: 780
bin: 5.75e1
variant carriers: 739

GenotypeQuality
all individuals: 2501
bin: 6.25e1
variant carriers: 785

GenotypeQuality
all individuals: 574
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variant carriers: 535

GenotypeQuality
all individuals: 18684
bin: 9.75e1
variant carriers: 18657

Other
type: Population
allele count: 255
allele frequency: 5.161943319838057e-1
allele num: 494
num of homozygotes: 61

East Asian
type: Population
allele count: 1869
allele frequency: 4.797227926078029e-1
allele num: 3896
num of homozygotes: 351

African
type: Population
allele count: 2393
allele frequency: 4.62862669245648e-1
allele num: 5170
num of homozygotes: 467

European (Finnish)
type: Population
allele count: 1334
allele frequency: 5.840630472854641e-1
allele num: 2284
num of homozygotes: 327

South Asian
type: Population
allele count: 6076
allele frequency: 5.127426160337553e-1
allele num: 11850
num of homozygotes: 1501

Latino
type: Population
allele count: 4067
allele frequency: 6.593709468223087e-1
allele num: 6168
num of homozygotes: 1213

European (Non-Finnish)
type: Population
allele count: 18782
allele frequency: 5.246075638232501e-1
allele num: 35802
num of homozygotes: 4173

DP
type: SiteQuality
SIO_000300: 7.64983e5

FS
type: SiteQuality
SIO_000300: 1.725e0

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

QD
type: SiteQuality
SIO_000300: 2.163e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.52e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.75e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1159
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2151
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GenotypeQuality
all individuals: 5028
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 43
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3978
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GenotypeQuality
all individuals: 224
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GenotypeQuality
all individuals: 151
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GenotypeQuality
all individuals: 5078
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GenotypeQuality
all individuals: 1296
bin: 4.25e1
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GenotypeQuality
all individuals: 1178
bin: 6.75e1
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GenotypeQuality
all individuals: 306
bin: 5.75e1
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GenotypeQuality
all individuals: 70
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GenotypeQuality
all individuals: 314
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GenotypeQuality
all individuals: 1774
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3822
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2184
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4926
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 450
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.11e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 7.09945e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQ
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SIO_000300: 6.0e1

BaseQRankSum
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SIO_000300: -1.768e0

VQSLOD
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SIO_000300: -1.898e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

QD
type: SiteQuality
SIO_000300: 3.17e0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 3820
num of homozygotes: 0

South Asian
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allele count: 4
allele frequency: 3.486750348675035e-4
allele num: 11472
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 452
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6116
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 4916
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34766
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2184
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.96e-1

FS
type: SiteQuality
SIO_000300: 3.245e0

MQRankSum
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SIO_000300: 2.96e-1

BaseQRankSum
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SIO_000300: -1.351e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.24e-2

QD
type: SiteQuality
SIO_000300: 1.503e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.92e-1

DP
type: SiteQuality
SIO_000300: 7.11354e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.36e-1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2222
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 34914
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 456
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3854
num of homozygotes: 0

Latino
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allele count: 5
allele frequency: 8.177952240758914e-4
allele num: 6114
num of homozygotes: 0

African
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allele count: 1
allele frequency: 2.035002035002035e-4
allele num: 4914
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.27e-1

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.598e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

VQSLOD
type: SiteQuality
SIO_000300: 9.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.23e-2

DP
type: SiteQuality
SIO_000300: 7.14053e5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35024
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4938
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2236
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3850
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6160
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 2.222222222222222e-3
allele num: 450
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.311e1

FS
type: SiteQuality
SIO_000300: 7.731e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.127e0

VQSLOD
type: SiteQuality
SIO_000300: 4.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.16e-2

DP
type: SiteQuality
SIO_000300: 7.15162e5

MQRankSum
type: SiteQuality
SIO_000300: 6.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.33e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4946
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6166
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.697681043815167e-5
allele num: 35102
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 450
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3824
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2260
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.761e0

QD
type: SiteQuality
SIO_000300: 9.949999999999999e0

DP
type: SiteQuality
SIO_000300: 7.19495e5

MQRankSum
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ClippingRankSum
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FS
type: SiteQuality
SIO_000300: 1.2631e1

BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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SIO_000300: -1.18e-2

MQ
type: SiteQuality
SIO_000300: 5.906e1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 35258
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 456
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2318
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4960
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6202
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3894
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
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SIO_000300: 7.2379e5

FS
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QD
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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MQ
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SIO_000300: 6.0e1

InbreedingCoeff
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SIO_000300: -1.15e-2

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 11592
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
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allele num: 460
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6284
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3962
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.815315315315315e-5
allele num: 35520
num of homozygotes: 0

ClippingRankSum
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SIO_000300: 1.06e-1

MQRankSum
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DP
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BaseQRankSum
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ReadPosRankSum
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FS
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InbreedingCoeff
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MQ
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VQSLOD
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QD
type: SiteQuality
SIO_000300: 1.099e1

GenotypeQuality
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 460
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 3.182686187141948e-4
allele num: 6284
num of homozygotes: 0

African
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 4
allele frequency: 1.126126126126126e-4
allele num: 35520
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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FS
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DP
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QD
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6460
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2468
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 466
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4144
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.000800320128051e-4
allele num: 4998
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.503880235566074e-5
allele num: 36338
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.490405841399219e-5
allele num: 11778
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.127e1

VQSLOD
type: SiteQuality
SIO_000300: -2.758e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.08e-2

FS
type: SiteQuality
SIO_000300: 1.9533e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.06e-1

DP
type: SiteQuality
SIO_000300: 7.52969e5

MQRankSum
type: SiteQuality
SIO_000300: 7.02e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1533
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 2.5e0
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 26

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 5993
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 7
allele frequency: 5.928184281842818e-4
allele num: 11808
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 1.076591817902184e-3
allele num: 6502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 8.225939128050452e-5
allele num: 36470
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 466
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4982
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2508
num of homozygotes: 0

East Asian
type: Population
allele count: 10
allele frequency: 2.391200382592061e-3
allele num: 4182
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.60554e5

ClippingRankSum
type: SiteQuality
SIO_000300: -7.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

FS
type: SiteQuality
SIO_000300: 4.307e0

MQRankSum
type: SiteQuality
SIO_000300: 1.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.15e-2

QD
type: SiteQuality
SIO_000300: 1.12e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.46e-1

GenotypeQuality
all individuals: 1486
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 457
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variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36934
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.517911353976928e-4
allele num: 6588
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2560
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4216
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11892
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 470
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.0e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.67e-1

QD
type: SiteQuality
SIO_000300: 7.36e0

FS
type: SiteQuality
SIO_000300: 1.775e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.05e-2

DP
type: SiteQuality
SIO_000300: 7.64134e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.623e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 10664
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variant carriers: 1

GenotypeQuality
all individuals: 215
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11958
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5062
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37312
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 4.675081813931744e-4
allele num: 4278
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 472
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6656
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2602
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.602e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.02e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

QD
type: SiteQuality
SIO_000300: 6.75e0

VQSLOD
type: SiteQuality
SIO_000300: -7.166e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.763e0

DP
type: SiteQuality
SIO_000300: 7.76325e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.61e-1

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

GenotypeQuality
all individuals: 4684
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variant carriers: 0

GenotypeQuality
all individuals: 933
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 218
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variant carriers: 4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 24221
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 296
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GenotypeQuality
all individuals: 1098
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2946
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variant carriers: 0

GenotypeQuality
all individuals: 1371
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.988862370723946e-4
allele num: 5028
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6686
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 474
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4294
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 8.023106546854942e-5
allele num: 37392
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11968
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.917e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.84e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.162e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.04e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.513e0

MQRankSum
type: SiteQuality
SIO_000300: 2.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

DP
type: SiteQuality
SIO_000300: 7.87025e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.29e-1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 68
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5264
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2900
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.007511266900351e-5
allele num: 39940
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4688
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12364
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.58e0

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.525e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.399999999999999e-3

FS
type: SiteQuality
SIO_000300: 3.577e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.21e-1

DP
type: SiteQuality
SIO_000300: 8.41407e5

GenotypeQuality
all individuals: 39
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 376
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12382
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4740
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7274
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5236
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.497627254108597e-5
allele num: 40038
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2910
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

FS
type: SiteQuality
SIO_000300: 6.864e0

MQRankSum
type: SiteQuality
SIO_000300: -3.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.25e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.500000000000001e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.55e0

DP
type: SiteQuality
SIO_000300: 8.44935e5

QD
type: SiteQuality
SIO_000300: 1.128e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 39
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
all individuals: 218
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variant carriers: 2

GenotypeQuality
all individuals: 21904
bin: 2.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4738
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5200
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2930
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.995004995004995e-5
allele num: 40040
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12408
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7288
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.464e0

QD
type: SiteQuality
SIO_000300: 7.5e0

FS
type: SiteQuality
SIO_000300: 1.7e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.800000000000001e-3

DP
type: SiteQuality
SIO_000300: 8.46462e5

VQSLOD
type: SiteQuality
SIO_000300: -2.412e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.38e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 14152
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 425
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4635
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40348
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5252
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2994
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.020532563362207e-5
allele num: 12468
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4770
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7374
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 518
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.53389e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.699999999999999e-3

QD
type: SiteQuality
SIO_000300: 4.24e0

FS
type: SiteQuality
SIO_000300: 4.168e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e0

MQRankSum
type: SiteQuality
SIO_000300: -5.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.012e0

VQSLOD
type: SiteQuality
SIO_000300: -2.183e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 506
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 176
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.460993256878476e-5
allele num: 40634
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 516
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4850
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7438
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12552
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5246
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3040
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.49e-1

QD
type: SiteQuality
SIO_000300: 1.605e1

FS
type: SiteQuality
SIO_000300: 9.647e0

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.84e-1

DP
type: SiteQuality
SIO_000300: 8.57737e5

BaseQRankSum
type: SiteQuality
SIO_000300: 2.52e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.3e-3

VQSLOD
type: SiteQuality
SIO_000300: -5.033e-1

GenotypeQuality
all individuals: 337
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4552
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1400
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.452904238618524e-5
allele num: 40768
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3056
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 514
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4870
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5216
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7460
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12570
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.200000000000001e-3

QD
type: SiteQuality
SIO_000300: 3.87e0

FS
type: SiteQuality
SIO_000300: 1.2797e1

MQRankSum
type: SiteQuality
SIO_000300: -7.91e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.318e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -3.097e0

DP
type: SiteQuality
SIO_000300: 8.61081e5

ClippingRankSum
type: SiteQuality
SIO_000300: -6.850000000000001e-1

GenotypeQuality
all individuals: 3115
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 934
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GenotypeQuality
all individuals: 431
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5226
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.42671325956125e-5
allele num: 41208
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7594
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.021018593371059e-4
allele num: 4948
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.917656373713381e-5
allele num: 12630
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 9.615384615384616e-4
allele num: 3120
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.130000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.1e-2

FS
type: SiteQuality
SIO_000300: 5.323e0

DP
type: SiteQuality
SIO_000300: 8.74032e5

VQSLOD
type: SiteQuality
SIO_000300: 3.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.800000000000001e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.71e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 911
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GenotypeQuality
all individuals: 509
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.388116731145818e-5
allele num: 41874
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5036
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3190
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5294
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 534
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12700
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.6e-3

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 7.689e0

VQSLOD
type: SiteQuality
SIO_000300: -6.14e-1

DP
type: SiteQuality
SIO_000300: 8.8964e5

QD
type: SiteQuality
SIO_000300: 1.798e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.419999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.650297619047619e-5
allele num: 43008
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.556662515566625e-4
allele num: 12848
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8020
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 3.636363636363636e-4
allele num: 5500
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 9.5565749235474e-4
allele num: 5232
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 552
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3358
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.472e0

VQSLOD
type: SiteQuality
SIO_000300: 2.09e0

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -7.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.085e0

MQRankSum
type: SiteQuality
SIO_000300: -5.8e-2

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 9.11859e5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 90
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GenotypeQuality
all individuals: 54
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variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 3.749531308586427e-4
allele num: 5334
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.447381302006853e-4
allele num: 8172
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5588
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12976
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3434
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 9.149549384692804e-5
allele num: 43718
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 556
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.463e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.8e-3

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 9.31414e5

MQRankSum
type: SiteQuality
SIO_000300: 4.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.09e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 224
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 817
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5626
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8352
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.235736004292613e-5
allele num: 44728
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5530
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3538
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13086
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.67e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.3e-3

QD
type: SiteQuality
SIO_000300: 4.91e0

VQSLOD
type: SiteQuality
SIO_000300: -1.733e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.330000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.333e0

FS
type: SiteQuality
SIO_000300: 2.963e0

DP
type: SiteQuality
SIO_000300: 9.47697e5

GenotypeQuality
all individuals: 58
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.230947706585757e-5
allele num: 44824
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 566
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13094
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5646
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3576
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.5e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.884e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.142e0

QD
type: SiteQuality
SIO_000300: 5.4e0

FS
type: SiteQuality
SIO_000300: 4.383e0

MQRankSum
type: SiteQuality
SIO_000300: 6.11e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.580000000000001e-1

DP
type: SiteQuality
SIO_000300: 9.55914e5

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 6

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13184
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5734
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 6.612298875909191e-5
allele num: 45370
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 576
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5634
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 5.506607929515419e-4
allele num: 3632
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

DP
type: SiteQuality
SIO_000300: 9.66145e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.4e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.36e-1

FS
type: SiteQuality
SIO_000300: 3.193e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.4e-3

QD
type: SiteQuality
SIO_000300: 9.539999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.26e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 78
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3912
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47716
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6080
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9070
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6096
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.392075694855116e-5
allele num: 13528
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.96e-1

DP
type: SiteQuality
SIO_000300: 1.015048e6

MQRankSum
type: SiteQuality
SIO_000300: -1.015e0

FS
type: SiteQuality
SIO_000300: 3.421e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.8e-2

MQ
type: SiteQuality
SIO_000300: 5.919e1

QD
type: SiteQuality
SIO_000300: 7.53e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.200000000000001e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.287e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.7e-1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
all individuals: 240
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GenotypeQuality
all individuals: 816
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3912
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47716
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.392075694855116e-5
allele num: 13528
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.640419947506562e-4
allele num: 6096
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9070
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 3.289473684210526e-4
allele num: 6080
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.015048e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.7e-1

MQ
type: SiteQuality
SIO_000300: 5.919e1

FS
type: SiteQuality
SIO_000300: 3.421e0

MQRankSum
type: SiteQuality
SIO_000300: -1.015e0

VQSLOD
type: SiteQuality
SIO_000300: -1.287e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.200000000000001e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.96e-1

QD
type: SiteQuality
SIO_000300: 7.53e0

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.471886959081543e-4
allele num: 13588
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 608
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3974
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6136
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9130
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 8.132726089785296e-4
allele num: 6148
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.081685332445148e-5
allele num: 48038
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

FS
type: SiteQuality
SIO_000300: 2.104e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.1e-2

DP
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -6.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 9.6e-1

ClippingRankSum
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SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.980354879594423e-5
allele num: 50496
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9612
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.153625269203159e-4
allele num: 13930
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 636
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4316
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.07535e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.112e0

VQSLOD
type: SiteQuality
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BaseQRankSum
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MQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.8e-3

ReadPosRankSum
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QD
type: SiteQuality
SIO_000300: 1.265e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 638
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6550
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6668
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.974723538704581e-5
allele num: 50640
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9636
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 4.196e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.37e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.95e0

VQSLOD
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ClippingRankSum
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 8.119999999999999e0

DP
type: SiteQuality
SIO_000300: 1.080442e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.92e0

GenotypeQuality
all individuals: 375
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1112
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2468
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 8.75e1
variant carriers: 0