19-12792412-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12792412
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12792412
    reference: chr 19
allele count: 1
allele frequency: 8.256411103221652e-6
allele num: 121118
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095059
  ensembl transcript: ENST00000593473
  gene symbol: DHPS
  hgvsc: ENST00000593473.1:n.256A>G
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000210060
  ensembl transcript: ENST00000210060
  gene symbol: DHPS
  hgvsc: ENST00000210060.7:c.169A>G
  hgvsp: ENSP00000210060.6:p.Thr57Ala
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472122
  ensembl transcript: ENST00000601537
  gene symbol: DHPS
  hgvsc: ENST00000601537.1:c.169A>G
  hgvsp: ENSP00000472122.1:p.Thr57Ala
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000221303
  ensembl transcript: ENST00000351660
  gene symbol: DHPS
  hgvsc: ENST00000351660.5:c.169A>G
  hgvsp: ENSP00000221303.5:p.Thr57Ala
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468993
  ensembl transcript: ENST00000595912
  gene symbol: DHPS
  hgvsc: ENST00000595912.1:c.169A>G
  hgvsp: ENSP00000468993.1:p.Thr57Ala
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472330
  ensembl transcript: ENST00000601639
  gene symbol: DHPS
  hgvsc: ENST00000601639.1:c.169A>G
  hgvsp: ENSP00000472330.1:p.Thr57Ala
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468889
  ensembl transcript: ENST00000595100
  gene symbol: DHPS
  hgvsc: ENST00000595100.1:c.169A>G
  hgvsp: ENSP00000468889.1:p.Thr57Ala
  variant of: http://identifiers.org/hgnc/2869
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6444
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22581
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29139
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1448
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr57Ala
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff

19-12792416-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12792416
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12792416
    reference: chr 19
allele count: 1
allele frequency: 8.256274768824306e-6
allele num: 121120
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468889
  ensembl transcript: ENST00000595100
  gene symbol: DHPS
  hgvsc: ENST00000595100.1:c.165A>G
  hgvsp: ENST00000595100.1:c.165A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468993
  ensembl transcript: ENST00000595912
  gene symbol: DHPS
  hgvsc: ENST00000595912.1:c.165A>G
  hgvsp: ENST00000595912.1:c.165A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472330
  ensembl transcript: ENST00000601639
  gene symbol: DHPS
  hgvsc: ENST00000601639.1:c.165A>G
  hgvsp: ENST00000601639.1:c.165A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472122
  ensembl transcript: ENST00000601537
  gene symbol: DHPS
  hgvsc: ENST00000601537.1:c.165A>G
  hgvsp: ENST00000601537.1:c.165A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095059
  ensembl transcript: ENST00000593473
  gene symbol: DHPS
  hgvsc: ENST00000593473.1:n.252A>G
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000210060
  ensembl transcript: ENST00000210060
  gene symbol: DHPS
  hgvsc: ENST00000210060.7:c.165A>G
  hgvsp: ENST00000210060.7:c.165A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000221303
  ensembl transcript: ENST00000351660
  gene symbol: DHPS
  hgvsc: ENST00000351660.5:c.165A>G
  hgvsp: ENST00000351660.5:c.165A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6446
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29114
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22593
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47920
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1446
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gln55Gln
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

19-12792419-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12792419
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12792419
    reference: chr 19
allele count: 1
allele frequency: 8.256138438929344e-6
allele num: 121122
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472330
  ensembl transcript: ENST00000601639
  gene symbol: DHPS
  hgvsc: ENST00000601639.1:c.162C>G
  hgvsp: ENSP00000472330.1:p.Phe54Leu
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468993
  ensembl transcript: ENST00000595912
  gene symbol: DHPS
  hgvsc: ENST00000595912.1:c.162C>G
  hgvsp: ENSP00000468993.1:p.Phe54Leu
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000221303
  ensembl transcript: ENST00000351660
  gene symbol: DHPS
  hgvsc: ENST00000351660.5:c.162C>G
  hgvsp: ENSP00000221303.5:p.Phe54Leu
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468889
  ensembl transcript: ENST00000595100
  gene symbol: DHPS
  hgvsc: ENST00000595100.1:c.162C>G
  hgvsp: ENSP00000468889.1:p.Phe54Leu
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000210060
  ensembl transcript: ENST00000210060
  gene symbol: DHPS
  hgvsc: ENST00000210060.7:c.162C>G
  hgvsp: ENSP00000210060.6:p.Phe54Leu
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472122
  ensembl transcript: ENST00000601537
  gene symbol: DHPS
  hgvsc: ENST00000601537.1:c.162C>G
  hgvsp: ENSP00000472122.1:p.Phe54Leu
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095059
  ensembl transcript: ENST00000593473
  gene symbol: DHPS
  hgvsc: ENST00000593473.1:n.249C>G
  variant of: http://identifiers.org/hgnc/2869
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29062
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22624
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6457
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1445
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Phe54Leu
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

19-12792423-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12792423
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12792423
    reference: chr 19
allele count: 1
allele frequency: 8.256411103221652e-6
allele num: 121118
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095059
  ensembl transcript: ENST00000593473
  gene symbol: DHPS
  hgvsc: ENST00000593473.1:n.245G>A
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000221303
  ensembl transcript: ENST00000351660
  gene symbol: DHPS
  hgvsc: ENST00000351660.5:c.158G>A
  hgvsp: ENSP00000221303.5:p.Gly53Asp
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468889
  ensembl transcript: ENST00000595100
  gene symbol: DHPS
  hgvsc: ENST00000595100.1:c.158G>A
  hgvsp: ENSP00000468889.1:p.Gly53Asp
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472122
  ensembl transcript: ENST00000601537
  gene symbol: DHPS
  hgvsc: ENST00000601537.1:c.158G>A
  hgvsp: ENSP00000472122.1:p.Gly53Asp
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472330
  ensembl transcript: ENST00000601639
  gene symbol: DHPS
  hgvsc: ENST00000601639.1:c.158G>A
  hgvsp: ENSP00000472330.1:p.Gly53Asp
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468993
  ensembl transcript: ENST00000595912
  gene symbol: DHPS
  hgvsc: ENST00000595912.1:c.158G>A
  hgvsp: ENSP00000468993.1:p.Gly53Asp
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000210060
  ensembl transcript: ENST00000210060
  gene symbol: DHPS
  hgvsc: ENST00000210060.7:c.158G>A
  hgvsp: ENSP00000210060.6:p.Gly53Asp
  variant of: http://identifiers.org/hgnc/2869
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22636
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29038
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6456
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1442
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47879
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly53Asp
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-12792425-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12792425
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12792425
    reference: chr 19
allele count: 1
allele frequency: 8.256683785524381e-6
allele num: 121114
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472330
  ensembl transcript: ENST00000601639
  gene symbol: DHPS
  hgvsc: ENST00000601639.1:c.156C>T
  hgvsp: ENST00000601639.1:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095059
  ensembl transcript: ENST00000593473
  gene symbol: DHPS
  hgvsc: ENST00000593473.1:n.243C>T
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000210060
  ensembl transcript: ENST00000210060
  gene symbol: DHPS
  hgvsc: ENST00000210060.7:c.156C>T
  hgvsp: ENST00000210060.7:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468993
  ensembl transcript: ENST00000595912
  gene symbol: DHPS
  hgvsc: ENST00000595912.1:c.156C>T
  hgvsp: ENST00000595912.1:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000221303
  ensembl transcript: ENST00000351660
  gene symbol: DHPS
  hgvsc: ENST00000351660.5:c.156C>T
  hgvsp: ENST00000351660.5:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468889
  ensembl transcript: ENST00000595100
  gene symbol: DHPS
  hgvsc: ENST00000595100.1:c.156C>T
  hgvsp: ENST00000595100.1:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472122
  ensembl transcript: ENST00000601537
  gene symbol: DHPS
  hgvsc: ENST00000601537.1:c.156C>T
  hgvsp: ENST00000601537.1:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22656
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29029
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6458
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47959
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 945
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6905
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr52Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff

19-12792425-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12792425
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12792425
    reference: chr 19
allele count: 1
allele frequency: 8.256683785524381e-6
allele num: 121114
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472330
  ensembl transcript: ENST00000601639
  gene symbol: DHPS
  hgvsc: ENST00000601639.1:c.156C>G
  hgvsp: ENST00000601639.1:c.156C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468889
  ensembl transcript: ENST00000595100
  gene symbol: DHPS
  hgvsc: ENST00000595100.1:c.156C>G
  hgvsp: ENST00000595100.1:c.156C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472122
  ensembl transcript: ENST00000601537
  gene symbol: DHPS
  hgvsc: ENST00000601537.1:c.156C>G
  hgvsp: ENST00000601537.1:c.156C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468993
  ensembl transcript: ENST00000595912
  gene symbol: DHPS
  hgvsc: ENST00000595912.1:c.156C>G
  hgvsp: ENST00000595912.1:c.156C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095059
  ensembl transcript: ENST00000593473
  gene symbol: DHPS
  hgvsc: ENST00000593473.1:n.243C>G
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000210060
  ensembl transcript: ENST00000210060
  gene symbol: DHPS
  hgvsc: ENST00000210060.7:c.156C>G
  hgvsp: ENST00000210060.7:c.156C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000221303
  ensembl transcript: ENST00000351660
  gene symbol: DHPS
  hgvsc: ENST00000351660.5:c.156C>G
  hgvsp: ENST00000351660.5:c.156C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22656
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6458
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29029
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1444
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47959
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1546
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 945
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr52Thr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

19-12792428-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12792428
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12792428
    reference: chr 19
allele count: 1
allele frequency: 8.256274768824306e-6
allele num: 121120
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468993
  ensembl transcript: ENST00000595912
  gene symbol: DHPS
  hgvsc: ENST00000595912.1:c.153C>T
  hgvsp: ENST00000595912.1:c.153C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472330
  ensembl transcript: ENST00000601639
  gene symbol: DHPS
  hgvsc: ENST00000601639.1:c.153C>T
  hgvsp: ENST00000601639.1:c.153C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472122
  ensembl transcript: ENST00000601537
  gene symbol: DHPS
  hgvsc: ENST00000601537.1:c.153C>T
  hgvsp: ENST00000601537.1:c.153C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468889
  ensembl transcript: ENST00000595100
  gene symbol: DHPS
  hgvsc: ENST00000595100.1:c.153C>T
  hgvsp: ENST00000595100.1:c.153C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095059
  ensembl transcript: ENST00000593473
  gene symbol: DHPS
  hgvsc: ENST00000593473.1:n.240C>T
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000210060
  ensembl transcript: ENST00000210060
  gene symbol: DHPS
  hgvsc: ENST00000210060.7:c.153C>T
  hgvsp: ENST00000210060.7:c.153C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000221303
  ensembl transcript: ENST00000351660
  gene symbol: DHPS
  hgvsc: ENST00000351660.5:c.153C>T
  hgvsp: ENST00000351660.5:c.153C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6463
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22658
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29003
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47922
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1546
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr51Thr
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum

19-12792431-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12792431
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12792431
    reference: chr 19
allele count: 5
allele frequency: 4.128001056768271e-5
allele num: 121124
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472122
  ensembl transcript: ENST00000601537
  gene symbol: DHPS
  hgvsc: ENST00000601537.1:c.150C>A
  hgvsp: ENST00000601537.1:c.150C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472330
  ensembl transcript: ENST00000601639
  gene symbol: DHPS
  hgvsc: ENST00000601639.1:c.150C>A
  hgvsp: ENST00000601639.1:c.150C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095059
  ensembl transcript: ENST00000593473
  gene symbol: DHPS
  hgvsc: ENST00000593473.1:n.237C>A
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000210060
  ensembl transcript: ENST00000210060
  gene symbol: DHPS
  hgvsc: ENST00000210060.7:c.150C>A
  hgvsp: ENST00000210060.7:c.150C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468993
  ensembl transcript: ENST00000595912
  gene symbol: DHPS
  hgvsc: ENST00000595912.1:c.150C>A
  hgvsp: ENST00000595912.1:c.150C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468889
  ensembl transcript: ENST00000595100
  gene symbol: DHPS
  hgvsc: ENST00000595100.1:c.150C>A
  hgvsp: ENST00000595100.1:c.150C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000221303
  ensembl transcript: ENST00000351660
  gene symbol: DHPS
  hgvsc: ENST00000351660.5:c.150C>A
  hgvsp: ENST00000351660.5:c.150C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22669
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6458
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28997
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47941
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6901
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly50Gly
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

19-12792441-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12792441
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12792441
    reference: chr 19
allele count: 1
allele frequency: 8.258320257659592e-6
allele num: 121090
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000210060
  ensembl transcript: ENST00000210060
  gene symbol: DHPS
  hgvsc: ENST00000210060.7:c.140A>T
  hgvsp: ENSP00000210060.6:p.Glu47Val
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000221303
  ensembl transcript: ENST00000351660
  gene symbol: DHPS
  hgvsc: ENST00000351660.5:c.140A>T
  hgvsp: ENSP00000221303.5:p.Glu47Val
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468993
  ensembl transcript: ENST00000595912
  gene symbol: DHPS
  hgvsc: ENST00000595912.1:c.140A>T
  hgvsp: ENSP00000468993.1:p.Glu47Val
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472330
  ensembl transcript: ENST00000601639
  gene symbol: DHPS
  hgvsc: ENST00000601639.1:c.140A>T
  hgvsp: ENSP00000472330.1:p.Glu47Val
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472122
  ensembl transcript: ENST00000601537
  gene symbol: DHPS
  hgvsc: ENST00000601537.1:c.140A>T
  hgvsp: ENSP00000472122.1:p.Glu47Val
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468889
  ensembl transcript: ENST00000595100
  gene symbol: DHPS
  hgvsc: ENST00000595100.1:c.140A>T
  hgvsp: ENSP00000468889.1:p.Glu47Val
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095059
  ensembl transcript: ENST00000593473
  gene symbol: DHPS
  hgvsc: ENST00000593473.1:n.227A>T
  variant of: http://identifiers.org/hgnc/2869
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28939
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22697
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6453
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu47Val
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

19-12792449-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12792449
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12792449
    reference: chr 19
allele count: 1
allele frequency: 8.261595148791329e-6
allele num: 121042
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000210060
  ensembl transcript: ENST00000210060
  gene symbol: DHPS
  hgvsc: ENST00000210060.7:c.132A>G
  hgvsp: ENST00000210060.7:c.132A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472122
  ensembl transcript: ENST00000601537
  gene symbol: DHPS
  hgvsc: ENST00000601537.1:c.132A>G
  hgvsp: ENST00000601537.1:c.132A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000221303
  ensembl transcript: ENST00000351660
  gene symbol: DHPS
  hgvsc: ENST00000351660.5:c.132A>G
  hgvsp: ENST00000351660.5:c.132A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095059
  ensembl transcript: ENST00000593473
  gene symbol: DHPS
  hgvsc: ENST00000593473.1:n.219A>G
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468889
  ensembl transcript: ENST00000595100
  gene symbol: DHPS
  hgvsc: ENST00000595100.1:c.132A>G
  hgvsp: ENST00000595100.1:c.132A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468993
  ensembl transcript: ENST00000595912
  gene symbol: DHPS
  hgvsc: ENST00000595912.1:c.132A>G
  hgvsp: ENST00000595912.1:c.132A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472330
  ensembl transcript: ENST00000601639
  gene symbol: DHPS
  hgvsc: ENST00000601639.1:c.132A>G
  hgvsp: ENST00000601639.1:c.132A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6442
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28930
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22684
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1538
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala44Ala
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

19-12792467-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12792467
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12792467
    reference: chr 19
allele count: 1
allele frequency: 8.268289456277286e-6
allele num: 120944
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000221303
  ensembl transcript: ENST00000351660
  gene symbol: DHPS
  hgvsc: ENST00000351660.5:c.114C>T
  hgvsp: ENST00000351660.5:c.114C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468993
  ensembl transcript: ENST00000595912
  gene symbol: DHPS
  hgvsc: ENST00000595912.1:c.114C>T
  hgvsp: ENST00000595912.1:c.114C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000210060
  ensembl transcript: ENST00000210060
  gene symbol: DHPS
  hgvsc: ENST00000210060.7:c.114C>T
  hgvsp: ENST00000210060.7:c.114C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472330
  ensembl transcript: ENST00000601639
  gene symbol: DHPS
  hgvsc: ENST00000601639.1:c.114C>T
  hgvsp: ENST00000601639.1:c.114C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095059
  ensembl transcript: ENST00000593473
  gene symbol: DHPS
  hgvsc: ENST00000593473.1:n.201C>T
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468889
  ensembl transcript: ENST00000595100
  gene symbol: DHPS
  hgvsc: ENST00000595100.1:c.114C>T
  hgvsp: ENST00000595100.1:c.114C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472122
  ensembl transcript: ENST00000601537
  gene symbol: DHPS
  hgvsc: ENST00000601537.1:c.114C>T
  hgvsp: ENST00000601537.1:c.114C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28786
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22697
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6450
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1534
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg38Arg
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS

19-12792469-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12792469
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12792469
    reference: chr 19
allele count: 3
allele frequency: 2.480938125403152e-5
allele num: 120922
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468889
  ensembl transcript: ENST00000595100
  gene symbol: DHPS
  hgvsc: ENST00000595100.1:c.112C>T
  hgvsp: ENSP00000468889.1:p.Arg38Cys
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095059
  ensembl transcript: ENST00000593473
  gene symbol: DHPS
  hgvsc: ENST00000593473.1:n.199C>T
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472330
  ensembl transcript: ENST00000601639
  gene symbol: DHPS
  hgvsc: ENST00000601639.1:c.112C>T
  hgvsp: ENSP00000472330.1:p.Arg38Cys
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468993
  ensembl transcript: ENST00000595912
  gene symbol: DHPS
  hgvsc: ENST00000595912.1:c.112C>T
  hgvsp: ENSP00000468993.1:p.Arg38Cys
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000210060
  ensembl transcript: ENST00000210060
  gene symbol: DHPS
  hgvsc: ENST00000210060.7:c.112C>T
  hgvsp: ENSP00000210060.6:p.Arg38Cys
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000221303
  ensembl transcript: ENST00000351660
  gene symbol: DHPS
  hgvsc: ENST00000351660.5:c.112C>T
  hgvsp: ENSP00000221303.5:p.Arg38Cys
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472122
  ensembl transcript: ENST00000601537
  gene symbol: DHPS
  hgvsc: ENST00000601537.1:c.112C>T
  hgvsp: ENSP00000472122.1:p.Arg38Cys
  variant of: http://identifiers.org/hgnc/2869
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6450
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28722
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22698
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1421
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6843
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1532
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg38Cys
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

19-12792469-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12792469
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12792469
    reference: chr 19
allele count: 1
allele frequency: 8.269793751343841e-6
allele num: 120922
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468993
  ensembl transcript: ENST00000595912
  gene symbol: DHPS
  hgvsc: ENST00000595912.1:c.112C>G
  hgvsp: ENSP00000468993.1:p.Arg38Gly
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468889
  ensembl transcript: ENST00000595100
  gene symbol: DHPS
  hgvsc: ENST00000595100.1:c.112C>G
  hgvsp: ENSP00000468889.1:p.Arg38Gly
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472122
  ensembl transcript: ENST00000601537
  gene symbol: DHPS
  hgvsc: ENST00000601537.1:c.112C>G
  hgvsp: ENSP00000472122.1:p.Arg38Gly
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095059
  ensembl transcript: ENST00000593473
  gene symbol: DHPS
  hgvsc: ENST00000593473.1:n.199C>G
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472330
  ensembl transcript: ENST00000601639
  gene symbol: DHPS
  hgvsc: ENST00000601639.1:c.112C>G
  hgvsp: ENSP00000472330.1:p.Arg38Gly
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000221303
  ensembl transcript: ENST00000351660
  gene symbol: DHPS
  hgvsc: ENST00000351660.5:c.112C>G
  hgvsp: ENSP00000221303.5:p.Arg38Gly
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000210060
  ensembl transcript: ENST00000210060
  gene symbol: DHPS
  hgvsc: ENST00000210060.7:c.112C>G
  hgvsp: ENSP00000210060.6:p.Arg38Gly
  variant of: http://identifiers.org/hgnc/2869
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28722
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22698
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6450
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47768
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg38Gly
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP

19-12792473-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12792473
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12792473
    reference: chr 19
allele count: 1
allele frequency: 8.272940865018697e-6
allele num: 120876
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472122
  ensembl transcript: ENST00000601537
  gene symbol: DHPS
  hgvsc: ENST00000601537.1:c.108C>T
  hgvsp: ENST00000601537.1:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468889
  ensembl transcript: ENST00000595100
  gene symbol: DHPS
  hgvsc: ENST00000595100.1:c.108C>T
  hgvsp: ENST00000595100.1:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000221303
  ensembl transcript: ENST00000351660
  gene symbol: DHPS
  hgvsc: ENST00000351660.5:c.108C>T
  hgvsp: ENST00000351660.5:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468993
  ensembl transcript: ENST00000595912
  gene symbol: DHPS
  hgvsc: ENST00000595912.1:c.108C>T
  hgvsp: ENST00000595912.1:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472330
  ensembl transcript: ENST00000601639
  gene symbol: DHPS
  hgvsc: ENST00000601639.1:c.108C>T
  hgvsp: ENST00000601639.1:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095059
  ensembl transcript: ENST00000593473
  gene symbol: DHPS
  hgvsc: ENST00000593473.1:n.195C>T
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000210060
  ensembl transcript: ENST00000210060
  gene symbol: DHPS
  hgvsc: ENST00000210060.7:c.108C>T
  hgvsp: ENST00000210060.7:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6436
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28707
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22690
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47761
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1416
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1526
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Phe36Phe
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

19-12792476-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12792476
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12792476
    reference: chr 19
allele count: 1
allele frequency: 8.275268532463878e-6
allele num: 120842
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000210060
  ensembl transcript: ENST00000210060
  gene symbol: DHPS
  hgvsc: ENST00000210060.7:c.105C>T
  hgvsp: ENST00000210060.7:c.105C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095059
  ensembl transcript: ENST00000593473
  gene symbol: DHPS
  hgvsc: ENST00000593473.1:n.192C>T
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468889
  ensembl transcript: ENST00000595100
  gene symbol: DHPS
  hgvsc: ENST00000595100.1:c.105C>T
  hgvsp: ENST00000595100.1:c.105C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472330
  ensembl transcript: ENST00000601639
  gene symbol: DHPS
  hgvsc: ENST00000601639.1:c.105C>T
  hgvsp: ENST00000601639.1:c.105C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468993
  ensembl transcript: ENST00000595912
  gene symbol: DHPS
  hgvsc: ENST00000595912.1:c.105C>T
  hgvsp: ENST00000595912.1:c.105C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472122
  ensembl transcript: ENST00000601537
  gene symbol: DHPS
  hgvsc: ENST00000601537.1:c.105C>T
  hgvsp: ENST00000601537.1:c.105C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000221303
  ensembl transcript: ENST00000351660
  gene symbol: DHPS
  hgvsc: ENST00000351660.5:c.105C>T
  hgvsp: ENST00000351660.5:c.105C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6438
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28690
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22658
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6844
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asp35Asp
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

19-12792485-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12792485
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12792485
    reference: chr 19
allele count: 1
allele frequency: 8.284592315212168e-6
allele num: 120706
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000221303
  ensembl transcript: ENST00000351660
  gene symbol: DHPS
  hgvsc: ENST00000351660.5:c.96G>A
  hgvsp: ENST00000351660.5:c.96G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095059
  ensembl transcript: ENST00000593473
  gene symbol: DHPS
  hgvsc: ENST00000593473.1:n.183G>A
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472330
  ensembl transcript: ENST00000601639
  gene symbol: DHPS
  hgvsc: ENST00000601639.1:c.96G>A
  hgvsp: ENST00000601639.1:c.96G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468993
  ensembl transcript: ENST00000595912
  gene symbol: DHPS
  hgvsc: ENST00000595912.1:c.96G>A
  hgvsp: ENST00000595912.1:c.96G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472122
  ensembl transcript: ENST00000601537
  gene symbol: DHPS
  hgvsc: ENST00000601537.1:c.96G>A
  hgvsp: ENST00000601537.1:c.96G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000210060
  ensembl transcript: ENST00000210060
  gene symbol: DHPS
  hgvsc: ENST00000210060.7:c.96G>A
  hgvsp: ENST00000210060.7:c.96G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468889
  ensembl transcript: ENST00000595100
  gene symbol: DHPS
  hgvsc: ENST00000595100.1:c.96G>A
  hgvsp: ENST00000595100.1:c.96G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28579
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22615
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6426
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1414
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg32Arg
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD

19-12792499-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12792499
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12792499
    reference: chr 19
allele count: 7
allele frequency: 5.81182956394673e-5
allele num: 120444
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468993
  ensembl transcript: ENST00000595912
  gene symbol: DHPS
  hgvsc: ENST00000595912.1:c.82A>G
  hgvsp: ENSP00000468993.1:p.Ser28Gly
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095059
  ensembl transcript: ENST00000593473
  gene symbol: DHPS
  hgvsc: ENST00000593473.1:n.169A>G
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000221303
  ensembl transcript: ENST00000351660
  gene symbol: DHPS
  hgvsc: ENST00000351660.5:c.82A>G
  hgvsp: ENSP00000221303.5:p.Ser28Gly
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472122
  ensembl transcript: ENST00000601537
  gene symbol: DHPS
  hgvsc: ENST00000601537.1:c.82A>G
  hgvsp: ENSP00000472122.1:p.Ser28Gly
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468889
  ensembl transcript: ENST00000595100
  gene symbol: DHPS
  hgvsc: ENST00000595100.1:c.82A>G
  hgvsp: ENSP00000468889.1:p.Ser28Gly
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472330
  ensembl transcript: ENST00000601639
  gene symbol: DHPS
  hgvsc: ENST00000601639.1:c.82A>G
  hgvsp: ENSP00000472330.1:p.Ser28Gly
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000210060
  ensembl transcript: ENST00000210060
  gene symbol: DHPS
  hgvsc: ENST00000210060.7:c.82A>G
  hgvsp: ENSP00000210060.6:p.Ser28Gly
  variant of: http://identifiers.org/hgnc/2869
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6383
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22500
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28404
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47328
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser28Gly
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP

19-12792506-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12792506
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12792506
    reference: chr 19
allele count: 1
allele frequency: 8.318775476249896e-6
allele num: 120210
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000221303
  ensembl transcript: ENST00000351660
  gene symbol: DHPS
  hgvsc: ENST00000351660.5:c.75G>A
  hgvsp: ENST00000351660.5:c.75G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468889
  ensembl transcript: ENST00000595100
  gene symbol: DHPS
  hgvsc: ENST00000595100.1:c.75G>A
  hgvsp: ENST00000595100.1:c.75G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468993
  ensembl transcript: ENST00000595912
  gene symbol: DHPS
  hgvsc: ENST00000595912.1:c.75G>A
  hgvsp: ENST00000595912.1:c.75G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000210060
  ensembl transcript: ENST00000210060
  gene symbol: DHPS
  hgvsc: ENST00000210060.7:c.75G>A
  hgvsp: ENST00000210060.7:c.75G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472122
  ensembl transcript: ENST00000601537
  gene symbol: DHPS
  hgvsc: ENST00000601537.1:c.75G>A
  hgvsp: ENST00000601537.1:c.75G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095059
  ensembl transcript: ENST00000593473
  gene symbol: DHPS
  hgvsc: ENST00000593473.1:n.162G>A
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472330
  ensembl transcript: ENST00000601639
  gene symbol: DHPS
  hgvsc: ENST00000601639.1:c.75G>A
  hgvsp: ENST00000601639.1:c.75G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6345
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22389
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28240
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1378
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6707
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro25Pro
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD

19-12792507-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12792507
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12792507
    reference: chr 19
allele count: 8
allele frequency: 6.65513110608279e-5
allele num: 120208
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095059
  ensembl transcript: ENST00000593473
  gene symbol: DHPS
  hgvsc: ENST00000593473.1:n.161C>T
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472330
  ensembl transcript: ENST00000601639
  gene symbol: DHPS
  hgvsc: ENST00000601639.1:c.74C>T
  hgvsp: ENSP00000472330.1:p.Pro25Leu
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000210060
  ensembl transcript: ENST00000210060
  gene symbol: DHPS
  hgvsc: ENST00000210060.7:c.74C>T
  hgvsp: ENSP00000210060.6:p.Pro25Leu
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000221303
  ensembl transcript: ENST00000351660
  gene symbol: DHPS
  hgvsc: ENST00000351660.5:c.74C>T
  hgvsp: ENSP00000221303.5:p.Pro25Leu
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468993
  ensembl transcript: ENST00000595912
  gene symbol: DHPS
  hgvsc: ENST00000595912.1:c.74C>T
  hgvsp: ENSP00000468993.1:p.Pro25Leu
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468889
  ensembl transcript: ENST00000595100
  gene symbol: DHPS
  hgvsc: ENST00000595100.1:c.74C>T
  hgvsp: ENSP00000468889.1:p.Pro25Leu
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472122
  ensembl transcript: ENST00000601537
  gene symbol: DHPS
  hgvsc: ENST00000601537.1:c.74C>T
  hgvsp: ENSP00000472122.1:p.Pro25Leu
  variant of: http://identifiers.org/hgnc/2869
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6341
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22376
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28249
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47034
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1483
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1376
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro25Leu
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/19-12792509-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12792509
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12792509
    reference: chr 19
allele count: 15
allele frequency: 1.248896807819759e-4
allele num: 120106
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468889
  ensembl transcript: ENST00000595100
  gene symbol: DHPS
  hgvsc: ENST00000595100.1:c.72G>T
  hgvsp: ENSP00000468889.1:p.Leu24Phe
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000221303
  ensembl transcript: ENST00000351660
  gene symbol: DHPS
  hgvsc: ENST00000351660.5:c.72G>T
  hgvsp: ENSP00000221303.5:p.Leu24Phe
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468993
  ensembl transcript: ENST00000595912
  gene symbol: DHPS
  hgvsc: ENST00000595912.1:c.72G>T
  hgvsp: ENSP00000468993.1:p.Leu24Phe
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000210060
  ensembl transcript: ENST00000210060
  gene symbol: DHPS
  hgvsc: ENST00000210060.7:c.72G>T
  hgvsp: ENSP00000210060.6:p.Leu24Phe
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095059
  ensembl transcript: ENST00000593473
  gene symbol: DHPS
  hgvsc: ENST00000593473.1:n.159G>T
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472330
  ensembl transcript: ENST00000601639
  gene symbol: DHPS
  hgvsc: ENST00000601639.1:c.72G>T
  hgvsp: ENSP00000472330.1:p.Leu24Phe
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472122
  ensembl transcript: ENST00000601537
  gene symbol: DHPS
  hgvsc: ENST00000601537.1:c.72G>T
  hgvsp: ENSP00000472122.1:p.Leu24Phe
  variant of: http://identifiers.org/hgnc/2869
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22320
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28209
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6320
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1372
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1165
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1477
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu24Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

19-12792516-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12792516
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12792516
    reference: chr 19
allele count: 3
allele frequency: 2.501667778519013e-5
allele num: 119920
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095059
  ensembl transcript: ENST00000593473
  gene symbol: DHPS
  hgvsc: ENST00000593473.1:n.152C>G
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000221303
  ensembl transcript: ENST00000351660
  gene symbol: DHPS
  hgvsc: ENST00000351660.5:c.65C>G
  hgvsp: ENSP00000221303.5:p.Ser22Trp
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472330
  ensembl transcript: ENST00000601639
  gene symbol: DHPS
  hgvsc: ENST00000601639.1:c.65C>G
  hgvsp: ENSP00000472330.1:p.Ser22Trp
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000210060
  ensembl transcript: ENST00000210060
  gene symbol: DHPS
  hgvsc: ENST00000210060.7:c.65C>G
  hgvsp: ENSP00000210060.6:p.Ser22Trp
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472122
  ensembl transcript: ENST00000601537
  gene symbol: DHPS
  hgvsc: ENST00000601537.1:c.65C>G
  hgvsp: ENSP00000472122.1:p.Ser22Trp
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468993
  ensembl transcript: ENST00000595912
  gene symbol: DHPS
  hgvsc: ENST00000595912.1:c.65C>G
  hgvsp: ENSP00000468993.1:p.Ser22Trp
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468889
  ensembl transcript: ENST00000595100
  gene symbol: DHPS
  hgvsc: ENST00000595100.1:c.65C>G
  hgvsp: ENSP00000468889.1:p.Ser22Trp
  variant of: http://identifiers.org/hgnc/2869
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28141
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6283
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22217
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1362
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser22Trp
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum

19-12792519-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12792519
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12792519
    reference: chr 19
allele count: 1
allele frequency: 8.351288603831571e-6
allele num: 119742
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472330
  ensembl transcript: ENST00000601639
  gene symbol: DHPS
  hgvsc: ENST00000601639.1:c.62G>C
  hgvsp: ENSP00000472330.1:p.Ser21Thr
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468889
  ensembl transcript: ENST00000595100
  gene symbol: DHPS
  hgvsc: ENST00000595100.1:c.62G>C
  hgvsp: ENSP00000468889.1:p.Ser21Thr
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000221303
  ensembl transcript: ENST00000351660
  gene symbol: DHPS
  hgvsc: ENST00000351660.5:c.62G>C
  hgvsp: ENSP00000221303.5:p.Ser21Thr
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095059
  ensembl transcript: ENST00000593473
  gene symbol: DHPS
  hgvsc: ENST00000593473.1:n.149G>C
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468993
  ensembl transcript: ENST00000595912
  gene symbol: DHPS
  hgvsc: ENST00000595912.1:c.62G>C
  hgvsp: ENSP00000468993.1:p.Ser21Thr
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000210060
  ensembl transcript: ENST00000210060
  gene symbol: DHPS
  hgvsc: ENST00000210060.7:c.62G>C
  hgvsp: ENSP00000210060.6:p.Ser21Thr
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472122
  ensembl transcript: ENST00000601537
  gene symbol: DHPS
  hgvsc: ENST00000601537.1:c.62G>C
  hgvsp: ENSP00000472122.1:p.Ser21Thr
  variant of: http://identifiers.org/hgnc/2869
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6269
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22151
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28008
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 46649
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6617
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser21Thr
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

19-12792520-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12792520
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12792520
    reference: chr 19
allele count: 2
allele frequency: 1.670815859384137e-5
allele num: 119702
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000221303
  ensembl transcript: ENST00000351660
  gene symbol: DHPS
  hgvsc: ENST00000351660.5:c.61A>G
  hgvsp: ENSP00000221303.5:p.Ser21Gly
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468993
  ensembl transcript: ENST00000595912
  gene symbol: DHPS
  hgvsc: ENST00000595912.1:c.61A>G
  hgvsp: ENSP00000468993.1:p.Ser21Gly
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000210060
  ensembl transcript: ENST00000210060
  gene symbol: DHPS
  hgvsc: ENST00000210060.7:c.61A>G
  hgvsp: ENSP00000210060.6:p.Ser21Gly
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472122
  ensembl transcript: ENST00000601537
  gene symbol: DHPS
  hgvsc: ENST00000601537.1:c.61A>G
  hgvsp: ENSP00000472122.1:p.Ser21Gly
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095059
  ensembl transcript: ENST00000593473
  gene symbol: DHPS
  hgvsc: ENST00000593473.1:n.148A>G
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468889
  ensembl transcript: ENST00000595100
  gene symbol: DHPS
  hgvsc: ENST00000595100.1:c.61A>G
  hgvsp: ENSP00000468889.1:p.Ser21Gly
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472330
  ensembl transcript: ENST00000601639
  gene symbol: DHPS
  hgvsc: ENST00000601639.1:c.61A>G
  hgvsp: ENSP00000472330.1:p.Ser21Gly
  variant of: http://identifiers.org/hgnc/2869
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6262
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27973
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22145
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46639
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser21Gly
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum

19-12792521-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12792521
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12792521
    reference: chr 19
allele count: 1
allele frequency: 8.360365180751095e-6
allele num: 119612
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468889
  ensembl transcript: ENST00000595100
  gene symbol: DHPS
  hgvsc: ENST00000595100.1:c.60C>G
  hgvsp: ENSP00000468889.1:p.His20Gln
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468993
  ensembl transcript: ENST00000595912
  gene symbol: DHPS
  hgvsc: ENST00000595912.1:c.60C>G
  hgvsp: ENSP00000468993.1:p.His20Gln
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000221303
  ensembl transcript: ENST00000351660
  gene symbol: DHPS
  hgvsc: ENST00000351660.5:c.60C>G
  hgvsp: ENSP00000221303.5:p.His20Gln
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472122
  ensembl transcript: ENST00000601537
  gene symbol: DHPS
  hgvsc: ENST00000601537.1:c.60C>G
  hgvsp: ENSP00000472122.1:p.His20Gln
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000210060
  ensembl transcript: ENST00000210060
  gene symbol: DHPS
  hgvsc: ENST00000210060.7:c.60C>G
  hgvsp: ENSP00000210060.6:p.His20Gln
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472330
  ensembl transcript: ENST00000601639
  gene symbol: DHPS
  hgvsc: ENST00000601639.1:c.60C>G
  hgvsp: ENSP00000472330.1:p.His20Gln
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095059
  ensembl transcript: ENST00000593473
  gene symbol: DHPS
  hgvsc: ENST00000593473.1:n.147C>G
  variant of: http://identifiers.org/hgnc/2869
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27907
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22093
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6250
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46524
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1454
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 8.25e1
  variant carriers: 0
hgvs: p.His20Gln
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

19-12792522-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12792522
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12792522
    reference: chr 19
allele count: 1
allele frequency: 8.36372152152822e-6
allele num: 119564
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472330
  ensembl transcript: ENST00000601639
  gene symbol: DHPS
  hgvsc: ENST00000601639.1:c.59A>G
  hgvsp: ENSP00000472330.1:p.His20Arg
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000210060
  ensembl transcript: ENST00000210060
  gene symbol: DHPS
  hgvsc: ENST00000210060.7:c.59A>G
  hgvsp: ENSP00000210060.6:p.His20Arg
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468993
  ensembl transcript: ENST00000595912
  gene symbol: DHPS
  hgvsc: ENST00000595912.1:c.59A>G
  hgvsp: ENSP00000468993.1:p.His20Arg
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472122
  ensembl transcript: ENST00000601537
  gene symbol: DHPS
  hgvsc: ENST00000601537.1:c.59A>G
  hgvsp: ENSP00000472122.1:p.His20Arg
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468889
  ensembl transcript: ENST00000595100
  gene symbol: DHPS
  hgvsc: ENST00000595100.1:c.59A>G
  hgvsp: ENSP00000468889.1:p.His20Arg
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095059
  ensembl transcript: ENST00000593473
  gene symbol: DHPS
  hgvsc: ENST00000593473.1:n.146A>G
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000221303
  ensembl transcript: ENST00000351660
  gene symbol: DHPS
  hgvsc: ENST00000351660.5:c.59A>G
  hgvsp: ENSP00000221303.5:p.His20Arg
  variant of: http://identifiers.org/hgnc/2869
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22067
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27837
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6250
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1715
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1364
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 9.25e1
  variant carriers: 0
hgvs: p.His20Arg
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

19-12792523-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12792523
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12792523
    reference: chr 19
allele count: 1
allele frequency: 8.378577652657685e-6
allele num: 119352
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468889
  ensembl transcript: ENST00000595100
  gene symbol: DHPS
  hgvsc: ENST00000595100.1:c.58C>T
  hgvsp: ENSP00000468889.1:p.His20Tyr
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095059
  ensembl transcript: ENST00000593473
  gene symbol: DHPS
  hgvsc: ENST00000593473.1:n.145C>T
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468993
  ensembl transcript: ENST00000595912
  gene symbol: DHPS
  hgvsc: ENST00000595912.1:c.58C>T
  hgvsp: ENSP00000468993.1:p.His20Tyr
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472122
  ensembl transcript: ENST00000601537
  gene symbol: DHPS
  hgvsc: ENST00000601537.1:c.58C>T
  hgvsp: ENSP00000472122.1:p.His20Tyr
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000210060
  ensembl transcript: ENST00000210060
  gene symbol: DHPS
  hgvsc: ENST00000210060.7:c.58C>T
  hgvsp: ENSP00000210060.6:p.His20Tyr
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000221303
  ensembl transcript: ENST00000351660
  gene symbol: DHPS
  hgvsc: ENST00000351660.5:c.58C>T
  hgvsp: ENSP00000221303.5:p.His20Tyr
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472330
  ensembl transcript: ENST00000601639
  gene symbol: DHPS
  hgvsc: ENST00000601639.1:c.58C>T
  hgvsp: ENSP00000472330.1:p.His20Tyr
  variant of: http://identifiers.org/hgnc/2869
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21954
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27699
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6212
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6528
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1355
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
hgvs: p.His20Tyr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

19-12792526-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12792526
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12792526
    reference: chr 19
allele count: 5
allele frequency: 4.196461543626414e-5
allele num: 119148
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000210060
  ensembl transcript: ENST00000210060
  gene symbol: DHPS
  hgvsc: ENST00000210060.7:c.55A>C
  hgvsp: ENSP00000210060.6:p.Lys19Gln
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095059
  ensembl transcript: ENST00000593473
  gene symbol: DHPS
  hgvsc: ENST00000593473.1:n.142A>C
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000221303
  ensembl transcript: ENST00000351660
  gene symbol: DHPS
  hgvsc: ENST00000351660.5:c.55A>C
  hgvsp: ENSP00000221303.5:p.Lys19Gln
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472122
  ensembl transcript: ENST00000601537
  gene symbol: DHPS
  hgvsc: ENST00000601537.1:c.55A>C
  hgvsp: ENSP00000472122.1:p.Lys19Gln
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468889
  ensembl transcript: ENST00000595100
  gene symbol: DHPS
  hgvsc: ENST00000595100.1:c.55A>C
  hgvsp: ENSP00000468889.1:p.Lys19Gln
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468993
  ensembl transcript: ENST00000595912
  gene symbol: DHPS
  hgvsc: ENST00000595912.1:c.55A>C
  hgvsp: ENSP00000468993.1:p.Lys19Gln
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472330
  ensembl transcript: ENST00000601639
  gene symbol: DHPS
  hgvsc: ENST00000601639.1:c.55A>C
  hgvsp: ENSP00000472330.1:p.Lys19Gln
  variant of: http://identifiers.org/hgnc/2869
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21845
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27610
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6172
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 931
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1447
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Lys19Gln
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: T
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/19-12792530-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12792530
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12792530
    reference: chr 19
allele count: 1
allele frequency: 8.443521286117163e-6
allele num: 118434
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472330
  ensembl transcript: ENST00000601639
  gene symbol: DHPS
  hgvsc: ENST00000601639.1:c.51G>T
  hgvsp: ENST00000601639.1:c.51G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468889
  ensembl transcript: ENST00000595100
  gene symbol: DHPS
  hgvsc: ENST00000595100.1:c.51G>T
  hgvsp: ENST00000595100.1:c.51G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000210060
  ensembl transcript: ENST00000210060
  gene symbol: DHPS
  hgvsc: ENST00000210060.7:c.51G>T
  hgvsp: ENST00000210060.7:c.51G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468993
  ensembl transcript: ENST00000595912
  gene symbol: DHPS
  hgvsc: ENST00000595912.1:c.51G>T
  hgvsp: ENST00000595912.1:c.51G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000221303
  ensembl transcript: ENST00000351660
  gene symbol: DHPS
  hgvsc: ENST00000351660.5:c.51G>T
  hgvsp: ENST00000351660.5:c.51G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472122
  ensembl transcript: ENST00000601537
  gene symbol: DHPS
  hgvsc: ENST00000601537.1:c.51G>T
  hgvsp: ENST00000601537.1:c.51G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095059
  ensembl transcript: ENST00000593473
  gene symbol: DHPS
  hgvsc: ENST00000593473.1:n.138G>T
  variant of: http://identifiers.org/hgnc/2869
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6030
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27403
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21552
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2262
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val17Val
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

19-12792532-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12792532
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12792532
    reference: chr 19
allele count: 9
allele frequency: 7.620402357244462e-5
allele num: 118104
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000210060
  ensembl transcript: ENST00000210060
  gene symbol: DHPS
  hgvsc: ENST00000210060.7:c.49G>A
  hgvsp: ENSP00000210060.6:p.Val17Met
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472330
  ensembl transcript: ENST00000601639
  gene symbol: DHPS
  hgvsc: ENST00000601639.1:c.49G>A
  hgvsp: ENSP00000472330.1:p.Val17Met
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000221303
  ensembl transcript: ENST00000351660
  gene symbol: DHPS
  hgvsc: ENST00000351660.5:c.49G>A
  hgvsp: ENSP00000221303.5:p.Val17Met
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472122
  ensembl transcript: ENST00000601537
  gene symbol: DHPS
  hgvsc: ENST00000601537.1:c.49G>A
  hgvsp: ENSP00000472122.1:p.Val17Met
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468889
  ensembl transcript: ENST00000595100
  gene symbol: DHPS
  hgvsc: ENST00000595100.1:c.49G>A
  hgvsp: ENSP00000468889.1:p.Val17Met
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095059
  ensembl transcript: ENST00000593473
  gene symbol: DHPS
  hgvsc: ENST00000593473.1:n.136G>A
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468993
  ensembl transcript: ENST00000595912
  gene symbol: DHPS
  hgvsc: ENST00000595912.1:c.49G>A
  hgvsp: ENSP00000468993.1:p.Val17Met
  variant of: http://identifiers.org/hgnc/2869
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27318
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5995
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21512
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1667
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 935
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 1425
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44687
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val17Met
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum

19-12792534-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12792534
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12792534
    reference: chr 19
allele count: 4
allele frequency: 3.386329388259596e-5
allele num: 118122
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468993
  ensembl transcript: ENST00000595912
  gene symbol: DHPS
  hgvsc: ENST00000595912.1:c.47C>T
  hgvsp: ENSP00000468993.1:p.Ala16Val
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468889
  ensembl transcript: ENST00000595100
  gene symbol: DHPS
  hgvsc: ENST00000595100.1:c.47C>T
  hgvsp: ENSP00000468889.1:p.Ala16Val
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472330
  ensembl transcript: ENST00000601639
  gene symbol: DHPS
  hgvsc: ENST00000601639.1:c.47C>T
  hgvsp: ENSP00000472330.1:p.Ala16Val
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000221303
  ensembl transcript: ENST00000351660
  gene symbol: DHPS
  hgvsc: ENST00000351660.5:c.47C>T
  hgvsp: ENSP00000221303.5:p.Ala16Val
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000210060
  ensembl transcript: ENST00000210060
  gene symbol: DHPS
  hgvsc: ENST00000210060.7:c.47C>T
  hgvsp: ENSP00000210060.6:p.Ala16Val
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472122
  ensembl transcript: ENST00000601537
  gene symbol: DHPS
  hgvsc: ENST00000601537.1:c.47C>T
  hgvsp: ENSP00000472122.1:p.Ala16Val
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095059
  ensembl transcript: ENST00000593473
  gene symbol: DHPS
  hgvsc: ENST00000593473.1:n.134C>T
  variant of: http://identifiers.org/hgnc/2869
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27352
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5945
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21530
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala16Val
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP

19-12792535-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12792535
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12792535
    reference: chr 19
allele count: 2
allele frequency: 1.693422746054325e-5
allele num: 118104
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472122
  ensembl transcript: ENST00000601537
  gene symbol: DHPS
  hgvsc: ENST00000601537.1:c.46G>A
  hgvsp: ENSP00000472122.1:p.Ala16Thr
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468993
  ensembl transcript: ENST00000595912
  gene symbol: DHPS
  hgvsc: ENST00000595912.1:c.46G>A
  hgvsp: ENSP00000468993.1:p.Ala16Thr
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095059
  ensembl transcript: ENST00000593473
  gene symbol: DHPS
  hgvsc: ENST00000593473.1:n.133G>A
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472330
  ensembl transcript: ENST00000601639
  gene symbol: DHPS
  hgvsc: ENST00000601639.1:c.46G>A
  hgvsp: ENSP00000472330.1:p.Ala16Thr
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000210060
  ensembl transcript: ENST00000210060
  gene symbol: DHPS
  hgvsc: ENST00000210060.7:c.46G>A
  hgvsp: ENSP00000210060.6:p.Ala16Thr
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468889
  ensembl transcript: ENST00000595100
  gene symbol: DHPS
  hgvsc: ENST00000595100.1:c.46G>A
  hgvsp: ENSP00000468889.1:p.Ala16Thr
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000221303
  ensembl transcript: ENST00000351660
  gene symbol: DHPS
  hgvsc: ENST00000351660.5:c.46G>A
  hgvsp: ENSP00000221303.5:p.Ala16Thr
  variant of: http://identifiers.org/hgnc/2869
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21538
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5940
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27333
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala16Thr
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS

http://identifiers.org/exac.variant/19-12792535-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12792535
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12792535
    reference: chr 19
allele count: 1
allele frequency: 8.467113730271625e-6
allele num: 118104
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468889
  ensembl transcript: ENST00000595100
  gene symbol: DHPS
  hgvsc: ENST00000595100.1:c.46G>T
  hgvsp: ENSP00000468889.1:p.Ala16Ser
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472330
  ensembl transcript: ENST00000601639
  gene symbol: DHPS
  hgvsc: ENST00000601639.1:c.46G>T
  hgvsp: ENSP00000472330.1:p.Ala16Ser
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095059
  ensembl transcript: ENST00000593473
  gene symbol: DHPS
  hgvsc: ENST00000593473.1:n.133G>T
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468993
  ensembl transcript: ENST00000595912
  gene symbol: DHPS
  hgvsc: ENST00000595912.1:c.46G>T
  hgvsp: ENSP00000468993.1:p.Ala16Ser
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000210060
  ensembl transcript: ENST00000210060
  gene symbol: DHPS
  hgvsc: ENST00000210060.7:c.46G>T
  hgvsp: ENSP00000210060.6:p.Ala16Ser
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472122
  ensembl transcript: ENST00000601537
  gene symbol: DHPS
  hgvsc: ENST00000601537.1:c.46G>T
  hgvsp: ENSP00000472122.1:p.Ala16Ser
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000221303
  ensembl transcript: ENST00000351660
  gene symbol: DHPS
  hgvsc: ENST00000351660.5:c.46G>T
  hgvsp: ENSP00000221303.5:p.Ala16Ser
  variant of: http://identifiers.org/hgnc/2869
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21538
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5940
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27333
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44896
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1423
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2404
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala16Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ

19-12792538-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12792538
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12792538
    reference: chr 19
allele count: 2
allele frequency: 1.70094062016295e-5
allele num: 117582
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095059
  ensembl transcript: ENST00000593473
  gene symbol: DHPS
  hgvsc: ENST00000593473.1:n.130G>A
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472330
  ensembl transcript: ENST00000601639
  gene symbol: DHPS
  hgvsc: ENST00000601639.1:c.43G>A
  hgvsp: ENSP00000472330.1:p.Ala15Thr
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468889
  ensembl transcript: ENST00000595100
  gene symbol: DHPS
  hgvsc: ENST00000595100.1:c.43G>A
  hgvsp: ENSP00000468889.1:p.Ala15Thr
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000210060
  ensembl transcript: ENST00000210060
  gene symbol: DHPS
  hgvsc: ENST00000210060.7:c.43G>A
  hgvsp: ENSP00000210060.6:p.Ala15Thr
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000221303
  ensembl transcript: ENST00000351660
  gene symbol: DHPS
  hgvsc: ENST00000351660.5:c.43G>A
  hgvsp: ENSP00000221303.5:p.Ala15Thr
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472122
  ensembl transcript: ENST00000601537
  gene symbol: DHPS
  hgvsc: ENST00000601537.1:c.43G>A
  hgvsp: ENSP00000472122.1:p.Ala15Thr
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468993
  ensembl transcript: ENST00000595912
  gene symbol: DHPS
  hgvsc: ENST00000595912.1:c.43G>A
  hgvsp: ENSP00000468993.1:p.Ala15Thr
  variant of: http://identifiers.org/hgnc/2869
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1800
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5845
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21394
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27290
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 924
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala15Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

19-12792539-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12792539
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12792539
    reference: chr 19
allele count: 12
allele frequency: 1.020113232568815e-4
allele num: 117634
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095059
  ensembl transcript: ENST00000593473
  gene symbol: DHPS
  hgvsc: ENST00000593473.1:n.129G>A
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468993
  ensembl transcript: ENST00000595912
  gene symbol: DHPS
  hgvsc: ENST00000595912.1:c.42G>A
  hgvsp: ENST00000595912.1:c.42G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000221303
  ensembl transcript: ENST00000351660
  gene symbol: DHPS
  hgvsc: ENST00000351660.5:c.42G>A
  hgvsp: ENST00000351660.5:c.42G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000210060
  ensembl transcript: ENST00000210060
  gene symbol: DHPS
  hgvsc: ENST00000210060.7:c.42G>A
  hgvsp: ENST00000210060.7:c.42G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472330
  ensembl transcript: ENST00000601639
  gene symbol: DHPS
  hgvsc: ENST00000601639.1:c.42G>A
  hgvsp: ENST00000601639.1:c.42G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468889
  ensembl transcript: ENST00000595100
  gene symbol: DHPS
  hgvsc: ENST00000595100.1:c.42G>A
  hgvsp: ENST00000595100.1:c.42G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472122
  ensembl transcript: ENST00000601537
  gene symbol: DHPS
  hgvsc: ENST00000601537.1:c.42G>A
  hgvsp: ENST00000601537.1:c.42G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1800
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21407
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27319
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5815
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44791
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 933
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu14Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-12792542-C-CG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12792542
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12792543
    reference: chr 19
allele count: 1
allele frequency: 8.51368148614824e-6
allele num: 117458
alternate allele: CG
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468889
  ensembl transcript: ENST00000595100
  gene symbol: DHPS
  hgvsc: ENST00000595100.1:c.38dupC
  hgvsp: ENSP00000468889.1:p.Leu14AlafsTer68
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000210060
  ensembl transcript: ENST00000210060
  gene symbol: DHPS
  hgvsc: ENST00000210060.7:c.38dupC
  hgvsp: ENSP00000210060.6:p.Leu14AlafsTer68
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472330
  ensembl transcript: ENST00000601639
  gene symbol: DHPS
  hgvsc: ENST00000601639.1:c.38dupC
  hgvsp: ENSP00000472330.1:p.Leu14AlafsTer68
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468993
  ensembl transcript: ENST00000595912
  gene symbol: DHPS
  hgvsc: ENST00000595912.1:c.38dupC
  hgvsp: ENSP00000468993.1:p.Leu14AlafsTer68
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095059
  ensembl transcript: ENST00000593473
  gene symbol: DHPS
  hgvsc: ENST00000593473.1:n.125dupC
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472122
  ensembl transcript: ENST00000601537
  gene symbol: DHPS
  hgvsc: ENST00000601537.1:c.38dupC
  hgvsp: ENSP00000472122.1:p.Leu14AlafsTer68
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000221303
  ensembl transcript: ENST00000351660
  gene symbol: DHPS
  hgvsc: ENST00000351660.5:c.38dupC
  hgvsp: ENSP00000221303.5:p.Leu14AlafsTer68
  variant of: http://identifiers.org/hgnc/2869
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27245
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5828
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21348
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44640
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 923
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu14AlafsTer68
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/19-12792544-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12792544
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12792544
    reference: chr 19
allele count: 2
allele frequency: 1.705407848286918e-5
allele num: 117274
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472330
  ensembl transcript: ENST00000601639
  gene symbol: DHPS
  hgvsc: ENST00000601639.1:c.37G>T
  hgvsp: ENSP00000472330.1:p.Ala13Ser
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000210060
  ensembl transcript: ENST00000210060
  gene symbol: DHPS
  hgvsc: ENST00000210060.7:c.37G>T
  hgvsp: ENSP00000210060.6:p.Ala13Ser
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000221303
  ensembl transcript: ENST00000351660
  gene symbol: DHPS
  hgvsc: ENST00000351660.5:c.37G>T
  hgvsp: ENSP00000221303.5:p.Ala13Ser
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472122
  ensembl transcript: ENST00000601537
  gene symbol: DHPS
  hgvsc: ENST00000601537.1:c.37G>T
  hgvsp: ENSP00000472122.1:p.Ala13Ser
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095059
  ensembl transcript: ENST00000593473
  gene symbol: DHPS
  hgvsc: ENST00000593473.1:n.124G>T
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468889
  ensembl transcript: ENST00000595100
  gene symbol: DHPS
  hgvsc: ENST00000595100.1:c.37G>T
  hgvsp: ENSP00000468889.1:p.Ala13Ser
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468993
  ensembl transcript: ENST00000595912
  gene symbol: DHPS
  hgvsc: ENST00000595912.1:c.37G>T
  hgvsp: ENSP00000468993.1:p.Ala13Ser
  variant of: http://identifiers.org/hgnc/2869
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21334
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1909
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27169
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5784
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6229
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44538
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala13Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD

19-12792544-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12792544
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12792544
    reference: chr 19
allele count: 1
allele frequency: 8.527039241434588e-6
allele num: 117274
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000221303
  ensembl transcript: ENST00000351660
  gene symbol: DHPS
  hgvsc: ENST00000351660.5:c.37G>C
  hgvsp: ENSP00000221303.5:p.Ala13Pro
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472122
  ensembl transcript: ENST00000601537
  gene symbol: DHPS
  hgvsc: ENST00000601537.1:c.37G>C
  hgvsp: ENSP00000472122.1:p.Ala13Pro
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472330
  ensembl transcript: ENST00000601639
  gene symbol: DHPS
  hgvsc: ENST00000601639.1:c.37G>C
  hgvsp: ENSP00000472330.1:p.Ala13Pro
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468889
  ensembl transcript: ENST00000595100
  gene symbol: DHPS
  hgvsc: ENST00000595100.1:c.37G>C
  hgvsp: ENSP00000468889.1:p.Ala13Pro
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000210060
  ensembl transcript: ENST00000210060
  gene symbol: DHPS
  hgvsc: ENST00000210060.7:c.37G>C
  hgvsp: ENSP00000210060.6:p.Ala13Pro
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095059
  ensembl transcript: ENST00000593473
  gene symbol: DHPS
  hgvsc: ENST00000593473.1:n.124G>C
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468993
  ensembl transcript: ENST00000595912
  gene symbol: DHPS
  hgvsc: ENST00000595912.1:c.37G>C
  hgvsp: ENSP00000468993.1:p.Ala13Pro
  variant of: http://identifiers.org/hgnc/2869
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1909
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21334
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27169
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5784
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6229
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1384
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44538
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala13Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum

19-12792544-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12792544
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12792544
    reference: chr 19
allele count: 1
allele frequency: 8.527039241434588e-6
allele num: 117274
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000221303
  ensembl transcript: ENST00000351660
  gene symbol: DHPS
  hgvsc: ENST00000351660.5:c.37G>A
  hgvsp: ENSP00000221303.5:p.Ala13Thr
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468889
  ensembl transcript: ENST00000595100
  gene symbol: DHPS
  hgvsc: ENST00000595100.1:c.37G>A
  hgvsp: ENSP00000468889.1:p.Ala13Thr
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000210060
  ensembl transcript: ENST00000210060
  gene symbol: DHPS
  hgvsc: ENST00000210060.7:c.37G>A
  hgvsp: ENSP00000210060.6:p.Ala13Thr
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472122
  ensembl transcript: ENST00000601537
  gene symbol: DHPS
  hgvsc: ENST00000601537.1:c.37G>A
  hgvsp: ENSP00000472122.1:p.Ala13Thr
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468993
  ensembl transcript: ENST00000595912
  gene symbol: DHPS
  hgvsc: ENST00000595912.1:c.37G>A
  hgvsp: ENSP00000468993.1:p.Ala13Thr
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095059
  ensembl transcript: ENST00000593473
  gene symbol: DHPS
  hgvsc: ENST00000593473.1:n.124G>A
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472330
  ensembl transcript: ENST00000601639
  gene symbol: DHPS
  hgvsc: ENST00000601639.1:c.37G>A
  hgvsp: ENSP00000472330.1:p.Ala13Thr
  variant of: http://identifiers.org/hgnc/2869
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21334
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27169
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1909
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5784
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1305
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala13Thr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

19-12792546-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12792546
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12792546
    reference: chr 19
allele count: 1
allele frequency: 8.533005665915763e-6
allele num: 117192
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468889
  ensembl transcript: ENST00000595100
  gene symbol: DHPS
  hgvsc: ENST00000595100.1:c.35G>C
  hgvsp: ENSP00000468889.1:p.Gly12Ala
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472330
  ensembl transcript: ENST00000601639
  gene symbol: DHPS
  hgvsc: ENST00000601639.1:c.35G>C
  hgvsp: ENSP00000472330.1:p.Gly12Ala
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468993
  ensembl transcript: ENST00000595912
  gene symbol: DHPS
  hgvsc: ENST00000595912.1:c.35G>C
  hgvsp: ENSP00000468993.1:p.Gly12Ala
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000210060
  ensembl transcript: ENST00000210060
  gene symbol: DHPS
  hgvsc: ENST00000210060.7:c.35G>C
  hgvsp: ENSP00000210060.6:p.Gly12Ala
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000221303
  ensembl transcript: ENST00000351660
  gene symbol: DHPS
  hgvsc: ENST00000351660.5:c.35G>C
  hgvsp: ENSP00000221303.5:p.Gly12Ala
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472122
  ensembl transcript: ENST00000601537
  gene symbol: DHPS
  hgvsc: ENST00000601537.1:c.35G>C
  hgvsp: ENSP00000472122.1:p.Gly12Ala
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095059
  ensembl transcript: ENST00000593473
  gene symbol: DHPS
  hgvsc: ENST00000593473.1:n.122G>C
  variant of: http://identifiers.org/hgnc/2869
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27144
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5760
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21323
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1308
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 924
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly12Ala
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

19-12792547-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12792547
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12792547
    reference: chr 19
allele count: 1
allele frequency: 8.532277606184194e-6
allele num: 117202
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472122
  ensembl transcript: ENST00000601537
  gene symbol: DHPS
  hgvsc: ENST00000601537.1:c.34G>C
  hgvsp: ENSP00000472122.1:p.Gly12Arg
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000210060
  ensembl transcript: ENST00000210060
  gene symbol: DHPS
  hgvsc: ENST00000210060.7:c.34G>C
  hgvsp: ENSP00000210060.6:p.Gly12Arg
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468993
  ensembl transcript: ENST00000595912
  gene symbol: DHPS
  hgvsc: ENST00000595912.1:c.34G>C
  hgvsp: ENSP00000468993.1:p.Gly12Arg
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468889
  ensembl transcript: ENST00000595100
  gene symbol: DHPS
  hgvsc: ENST00000595100.1:c.34G>C
  hgvsp: ENSP00000468889.1:p.Gly12Arg
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472330
  ensembl transcript: ENST00000601639
  gene symbol: DHPS
  hgvsc: ENST00000601639.1:c.34G>C
  hgvsp: ENSP00000472330.1:p.Gly12Arg
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095059
  ensembl transcript: ENST00000593473
  gene symbol: DHPS
  hgvsc: ENST00000593473.1:n.121G>C
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000221303
  ensembl transcript: ENST00000351660
  gene symbol: DHPS
  hgvsc: ENST00000351660.5:c.34G>C
  hgvsp: ENSP00000221303.5:p.Gly12Arg
  variant of: http://identifiers.org/hgnc/2869
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5748
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21330
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27172
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1388
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6225
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly12Arg
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

19-12792548-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12792548
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12792548
    reference: chr 19
allele count: 1
allele frequency: 8.535481998668465e-6
allele num: 117158
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000210060
  ensembl transcript: ENST00000210060
  gene symbol: DHPS
  hgvsc: ENST00000210060.7:c.33G>C
  hgvsp: ENST00000210060.7:c.33G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000221303
  ensembl transcript: ENST00000351660
  gene symbol: DHPS
  hgvsc: ENST00000351660.5:c.33G>C
  hgvsp: ENST00000351660.5:c.33G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468889
  ensembl transcript: ENST00000595100
  gene symbol: DHPS
  hgvsc: ENST00000595100.1:c.33G>C
  hgvsp: ENST00000595100.1:c.33G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468993
  ensembl transcript: ENST00000595912
  gene symbol: DHPS
  hgvsc: ENST00000595912.1:c.33G>C
  hgvsp: ENST00000595912.1:c.33G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472330
  ensembl transcript: ENST00000601639
  gene symbol: DHPS
  hgvsc: ENST00000601639.1:c.33G>C
  hgvsp: ENST00000601639.1:c.33G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472122
  ensembl transcript: ENST00000601537
  gene symbol: DHPS
  hgvsc: ENST00000601537.1:c.33G>C
  hgvsp: ENST00000601537.1:c.33G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095059
  ensembl transcript: ENST00000593473
  gene symbol: DHPS
  hgvsc: ENST00000593473.1:n.120G>C
  variant of: http://identifiers.org/hgnc/2869
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27200
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5747
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21330
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6219
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala11Ala
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

http://identifiers.org/exac.variant/19-12792548-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12792548
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12792548
    reference: chr 19
allele count: 1
allele frequency: 8.535481998668465e-6
allele num: 117158
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468993
  ensembl transcript: ENST00000595912
  gene symbol: DHPS
  hgvsc: ENST00000595912.1:c.33G>T
  hgvsp: ENST00000595912.1:c.33G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000221303
  ensembl transcript: ENST00000351660
  gene symbol: DHPS
  hgvsc: ENST00000351660.5:c.33G>T
  hgvsp: ENST00000351660.5:c.33G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468889
  ensembl transcript: ENST00000595100
  gene symbol: DHPS
  hgvsc: ENST00000595100.1:c.33G>T
  hgvsp: ENST00000595100.1:c.33G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000210060
  ensembl transcript: ENST00000210060
  gene symbol: DHPS
  hgvsc: ENST00000210060.7:c.33G>T
  hgvsp: ENST00000210060.7:c.33G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472330
  ensembl transcript: ENST00000601639
  gene symbol: DHPS
  hgvsc: ENST00000601639.1:c.33G>T
  hgvsp: ENST00000601639.1:c.33G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095059
  ensembl transcript: ENST00000593473
  gene symbol: DHPS
  hgvsc: ENST00000593473.1:n.120G>T
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472122
  ensembl transcript: ENST00000601537
  gene symbol: DHPS
  hgvsc: ENST00000601537.1:c.33G>T
  hgvsp: ENST00000601537.1:c.33G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5747
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27200
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21330
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1383
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44796
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala11Ala
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

19-12792549-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12792549
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12792549
    reference: chr 19
allele count: 2
allele frequency: 1.707766923970216e-5
allele num: 117112
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472330
  ensembl transcript: ENST00000601639
  gene symbol: DHPS
  hgvsc: ENST00000601639.1:c.32C>G
  hgvsp: ENSP00000472330.1:p.Ala11Gly
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000210060
  ensembl transcript: ENST00000210060
  gene symbol: DHPS
  hgvsc: ENST00000210060.7:c.32C>G
  hgvsp: ENSP00000210060.6:p.Ala11Gly
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000221303
  ensembl transcript: ENST00000351660
  gene symbol: DHPS
  hgvsc: ENST00000351660.5:c.32C>G
  hgvsp: ENSP00000221303.5:p.Ala11Gly
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468993
  ensembl transcript: ENST00000595912
  gene symbol: DHPS
  hgvsc: ENST00000595912.1:c.32C>G
  hgvsp: ENSP00000468993.1:p.Ala11Gly
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472122
  ensembl transcript: ENST00000601537
  gene symbol: DHPS
  hgvsc: ENST00000601537.1:c.32C>G
  hgvsp: ENSP00000472122.1:p.Ala11Gly
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468889
  ensembl transcript: ENST00000595100
  gene symbol: DHPS
  hgvsc: ENST00000595100.1:c.32C>G
  hgvsp: ENSP00000468889.1:p.Ala11Gly
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095059
  ensembl transcript: ENST00000593473
  gene symbol: DHPS
  hgvsc: ENST00000593473.1:n.119C>G
  variant of: http://identifiers.org/hgnc/2869
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21277
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27210
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5750
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1383
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3041
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala11Gly
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

19-12792554-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12792554
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12792554
    reference: chr 19
allele count: 1
allele frequency: 8.566924816667809e-6
allele num: 116728
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000221303
  ensembl transcript: ENST00000351660
  gene symbol: DHPS
  hgvsc: ENST00000351660.5:c.27G>A
  hgvsp: ENST00000351660.5:c.27G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468993
  ensembl transcript: ENST00000595912
  gene symbol: DHPS
  hgvsc: ENST00000595912.1:c.27G>A
  hgvsp: ENST00000595912.1:c.27G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468889
  ensembl transcript: ENST00000595100
  gene symbol: DHPS
  hgvsc: ENST00000595100.1:c.27G>A
  hgvsp: ENST00000595100.1:c.27G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095059
  ensembl transcript: ENST00000593473
  gene symbol: DHPS
  hgvsc: ENST00000593473.1:n.114G>A
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472122
  ensembl transcript: ENST00000601537
  gene symbol: DHPS
  hgvsc: ENST00000601537.1:c.27G>A
  hgvsp: ENST00000601537.1:c.27G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472330
  ensembl transcript: ENST00000601639
  gene symbol: DHPS
  hgvsc: ENST00000601639.1:c.27G>A
  hgvsp: ENST00000601639.1:c.27G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000210060
  ensembl transcript: ENST00000210060
  gene symbol: DHPS
  hgvsc: ENST00000210060.7:c.27G>A
  hgvsp: ENST00000210060.7:c.27G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21087
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27025
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5715
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6169
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1294
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3319
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala9Ala
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP

19-12792559-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12792559
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12792559
    reference: chr 19
allele count: 2
allele frequency: 1.719365210364333e-5
allele num: 116322
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000210060
  ensembl transcript: ENST00000210060
  gene symbol: DHPS
  hgvsc: ENST00000210060.7:c.22G>C
  hgvsp: ENSP00000210060.6:p.Glu8Gln
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468993
  ensembl transcript: ENST00000595912
  gene symbol: DHPS
  hgvsc: ENST00000595912.1:c.22G>C
  hgvsp: ENSP00000468993.1:p.Glu8Gln
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472330
  ensembl transcript: ENST00000601639
  gene symbol: DHPS
  hgvsc: ENST00000601639.1:c.22G>C
  hgvsp: ENSP00000472330.1:p.Glu8Gln
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095059
  ensembl transcript: ENST00000593473
  gene symbol: DHPS
  hgvsc: ENST00000593473.1:n.109G>C
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468889
  ensembl transcript: ENST00000595100
  gene symbol: DHPS
  hgvsc: ENST00000595100.1:c.22G>C
  hgvsp: ENSP00000468889.1:p.Glu8Gln
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472122
  ensembl transcript: ENST00000601537
  gene symbol: DHPS
  hgvsc: ENST00000601537.1:c.22G>C
  hgvsp: ENSP00000472122.1:p.Glu8Gln
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000221303
  ensembl transcript: ENST00000351660
  gene symbol: DHPS
  hgvsc: ENST00000351660.5:c.22G>C
  hgvsp: ENSP00000221303.5:p.Glu8Gln
  variant of: http://identifiers.org/hgnc/2869
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2302
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20981
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26805
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5689
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44077
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1348
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu8Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

19-12792559-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12792559
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12792559
    reference: chr 19
allele count: 1
allele frequency: 8.596826051821667e-6
allele num: 116322
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472330
  ensembl transcript: ENST00000601639
  gene symbol: DHPS
  hgvsc: ENST00000601639.1:c.22G>A
  hgvsp: ENSP00000472330.1:p.Glu8Lys
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095059
  ensembl transcript: ENST00000593473
  gene symbol: DHPS
  hgvsc: ENST00000593473.1:n.109G>A
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468993
  ensembl transcript: ENST00000595912
  gene symbol: DHPS
  hgvsc: ENST00000595912.1:c.22G>A
  hgvsp: ENSP00000468993.1:p.Glu8Lys
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000221303
  ensembl transcript: ENST00000351660
  gene symbol: DHPS
  hgvsc: ENST00000351660.5:c.22G>A
  hgvsp: ENSP00000221303.5:p.Glu8Lys
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468889
  ensembl transcript: ENST00000595100
  gene symbol: DHPS
  hgvsc: ENST00000595100.1:c.22G>A
  hgvsp: ENSP00000468889.1:p.Glu8Lys
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472122
  ensembl transcript: ENST00000601537
  gene symbol: DHPS
  hgvsc: ENST00000601537.1:c.22G>A
  hgvsp: ENSP00000472122.1:p.Glu8Lys
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000210060
  ensembl transcript: ENST00000210060
  gene symbol: DHPS
  hgvsc: ENST00000210060.7:c.22G>A
  hgvsp: ENSP00000210060.6:p.Glu8Lys
  variant of: http://identifiers.org/hgnc/2869
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26805
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20981
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2302
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5689
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3605
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44077
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu8Lys
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ

19-12792561-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12792561
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12792561
    reference: chr 19
allele count: 2
allele frequency: 1.721614874752518e-5
allele num: 116170
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000210060
  ensembl transcript: ENST00000210060
  gene symbol: DHPS
  hgvsc: ENST00000210060.7:c.20G>A
  hgvsp: ENSP00000210060.6:p.Arg7Gln
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472330
  ensembl transcript: ENST00000601639
  gene symbol: DHPS
  hgvsc: ENST00000601639.1:c.20G>A
  hgvsp: ENSP00000472330.1:p.Arg7Gln
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472122
  ensembl transcript: ENST00000601537
  gene symbol: DHPS
  hgvsc: ENST00000601537.1:c.20G>A
  hgvsp: ENSP00000472122.1:p.Arg7Gln
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468889
  ensembl transcript: ENST00000595100
  gene symbol: DHPS
  hgvsc: ENST00000595100.1:c.20G>A
  hgvsp: ENSP00000468889.1:p.Arg7Gln
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000221303
  ensembl transcript: ENST00000351660
  gene symbol: DHPS
  hgvsc: ENST00000351660.5:c.20G>A
  hgvsp: ENSP00000221303.5:p.Arg7Gln
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468993
  ensembl transcript: ENST00000595912
  gene symbol: DHPS
  hgvsc: ENST00000595912.1:c.20G>A
  hgvsp: ENSP00000468993.1:p.Arg7Gln
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095059
  ensembl transcript: ENST00000593473
  gene symbol: DHPS
  hgvsc: ENST00000593473.1:n.107G>A
  variant of: http://identifiers.org/hgnc/2869
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5697
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26730
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2008
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20896
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 923
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43966
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1340
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg7Gln
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/19-12792565-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12792565
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12792565
    reference: chr 19
allele count: 2
allele frequency: 1.726996407847472e-5
allele num: 115808
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472330
  ensembl transcript: ENST00000601639
  gene symbol: DHPS
  hgvsc: ENST00000601639.1:c.16G>T
  hgvsp: ENSP00000472330.1:p.Glu6Ter
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095059
  ensembl transcript: ENST00000593473
  gene symbol: DHPS
  hgvsc: ENST00000593473.1:n.103G>T
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468889
  ensembl transcript: ENST00000595100
  gene symbol: DHPS
  hgvsc: ENST00000595100.1:c.16G>T
  hgvsp: ENSP00000468889.1:p.Glu6Ter
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000210060
  ensembl transcript: ENST00000210060
  gene symbol: DHPS
  hgvsc: ENST00000210060.7:c.16G>T
  hgvsp: ENSP00000210060.6:p.Glu6Ter
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000221303
  ensembl transcript: ENST00000351660
  gene symbol: DHPS
  hgvsc: ENST00000351660.5:c.16G>T
  hgvsp: ENSP00000221303.5:p.Glu6Ter
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468993
  ensembl transcript: ENST00000595912
  gene symbol: DHPS
  hgvsc: ENST00000595912.1:c.16G>T
  hgvsp: ENSP00000468993.1:p.Glu6Ter
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472122
  ensembl transcript: ENST00000601537
  gene symbol: DHPS
  hgvsc: ENST00000601537.1:c.16G>T
  hgvsp: ENSP00000472122.1:p.Glu6Ter
  variant of: http://identifiers.org/hgnc/2869
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26511
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20847
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5653
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6084
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3977
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Glu6Ter
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/19-12792566-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12792566
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12792566
    reference: chr 19
allele count: 1
allele frequency: 8.641847281274845e-6
allele num: 115716
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000210060
  ensembl transcript: ENST00000210060
  gene symbol: DHPS
  hgvsc: ENST00000210060.7:c.15G>T
  hgvsp: ENST00000210060.7:c.15G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472122
  ensembl transcript: ENST00000601537
  gene symbol: DHPS
  hgvsc: ENST00000601537.1:c.15G>T
  hgvsp: ENST00000601537.1:c.15G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472330
  ensembl transcript: ENST00000601639
  gene symbol: DHPS
  hgvsc: ENST00000601639.1:c.15G>T
  hgvsp: ENST00000601639.1:c.15G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468993
  ensembl transcript: ENST00000595912
  gene symbol: DHPS
  hgvsc: ENST00000595912.1:c.15G>T
  hgvsp: ENST00000595912.1:c.15G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468889
  ensembl transcript: ENST00000595100
  gene symbol: DHPS
  hgvsc: ENST00000595100.1:c.15G>T
  hgvsp: ENST00000595100.1:c.15G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000221303
  ensembl transcript: ENST00000351660
  gene symbol: DHPS
  hgvsc: ENST00000351660.5:c.15G>T
  hgvsp: ENST00000351660.5:c.15G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095059
  ensembl transcript: ENST00000593473
  gene symbol: DHPS
  hgvsc: ENST00000593473.1:n.102G>T
  variant of: http://identifiers.org/hgnc/2869
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2591
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26450
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20825
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5649
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1333
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43722
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6083
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu5Leu
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

19-12792570-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12792570
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12792570
    reference: chr 19
allele count: 1
allele frequency: 8.684023134237629e-6
allele num: 115154
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000221303
  ensembl transcript: ENST00000351660
  gene symbol: DHPS
  hgvsc: ENST00000351660.5:c.11C>T
  hgvsp: ENSP00000221303.5:p.Ser4Phe
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095059
  ensembl transcript: ENST00000593473
  gene symbol: DHPS
  hgvsc: ENST00000593473.1:n.98C>T
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000210060
  ensembl transcript: ENST00000210060
  gene symbol: DHPS
  hgvsc: ENST00000210060.7:c.11C>T
  hgvsp: ENSP00000210060.6:p.Ser4Phe
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468993
  ensembl transcript: ENST00000595912
  gene symbol: DHPS
  hgvsc: ENST00000595912.1:c.11C>T
  hgvsp: ENSP00000468993.1:p.Ser4Phe
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472330
  ensembl transcript: ENST00000601639
  gene symbol: DHPS
  hgvsc: ENST00000601639.1:c.11C>T
  hgvsp: ENSP00000472330.1:p.Ser4Phe
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468889
  ensembl transcript: ENST00000595100
  gene symbol: DHPS
  hgvsc: ENST00000595100.1:c.11C>T
  hgvsp: ENSP00000468889.1:p.Ser4Phe
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472122
  ensembl transcript: ENST00000601537
  gene symbol: DHPS
  hgvsc: ENST00000601537.1:c.11C>T
  hgvsp: ENSP00000472122.1:p.Ser4Phe
  variant of: http://identifiers.org/hgnc/2869
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2936
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25919
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20716
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5627
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43138
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1314
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser4Phe
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-12792574-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12792574
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12792574
    reference: chr 19
allele count: 1
allele frequency: 8.74263433057649e-6
allele num: 114382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468889
  ensembl transcript: ENST00000595100
  gene symbol: DHPS
  hgvsc: ENST00000595100.1:c.7G>A
  hgvsp: ENSP00000468889.1:p.Gly3Ser
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472122
  ensembl transcript: ENST00000601537
  gene symbol: DHPS
  hgvsc: ENST00000601537.1:c.7G>A
  hgvsp: ENSP00000472122.1:p.Gly3Ser
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000210060
  ensembl transcript: ENST00000210060
  gene symbol: DHPS
  hgvsc: ENST00000210060.7:c.7G>A
  hgvsp: ENSP00000210060.6:p.Gly3Ser
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000221303
  ensembl transcript: ENST00000351660
  gene symbol: DHPS
  hgvsc: ENST00000351660.5:c.7G>A
  hgvsp: ENSP00000221303.5:p.Gly3Ser
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468993
  ensembl transcript: ENST00000595912
  gene symbol: DHPS
  hgvsc: ENST00000595912.1:c.7G>A
  hgvsp: ENSP00000468993.1:p.Gly3Ser
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472330
  ensembl transcript: ENST00000601639
  gene symbol: DHPS
  hgvsc: ENST00000601639.1:c.7G>A
  hgvsp: ENSP00000472330.1:p.Gly3Ser
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095059
  ensembl transcript: ENST00000593473
  gene symbol: DHPS
  hgvsc: ENST00000593473.1:n.94G>A
  variant of: http://identifiers.org/hgnc/2869
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5612
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20496
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25157
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2627
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3447
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1307
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1237
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42104
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly3Ser
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

19-12792579-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12792579
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12792579
    reference: chr 19
allele count: 3
allele frequency: 2.649848958609359e-5
allele num: 113214
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468993
  ensembl transcript: ENST00000595912
  gene symbol: DHPS
  hgvsc: ENST00000595912.1:c.2T>C
  hgvsp: ENSP00000468993.1:p.Met1?
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468889
  ensembl transcript: ENST00000595100
  gene symbol: DHPS
  hgvsc: ENST00000595100.1:c.2T>C
  hgvsp: ENSP00000468889.1:p.Met1?
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: true
  consequence: start_lost
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000210060
  ensembl transcript: ENST00000210060
  gene symbol: DHPS
  hgvsc: ENST00000210060.7:c.2T>C
  hgvsp: ENSP00000210060.6:p.Met1?
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472330
  ensembl transcript: ENST00000601639
  gene symbol: DHPS
  hgvsc: ENST00000601639.1:c.2T>C
  hgvsp: ENSP00000472330.1:p.Met1?
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095059
  ensembl transcript: ENST00000593473
  gene symbol: DHPS
  hgvsc: ENST00000593473.1:n.89T>C
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472122
  ensembl transcript: ENST00000601537
  gene symbol: DHPS
  hgvsc: ENST00000601537.1:c.2T>C
  hgvsp: ENSP00000472122.1:p.Met1?
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000221303
  ensembl transcript: ENST00000351660
  gene symbol: DHPS
  hgvsc: ENST00000351660.5:c.2T>C
  hgvsp: ENSP00000221303.5:p.Met1?
  variant of: http://identifiers.org/hgnc/2869
canonical: true
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24111
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5556
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4244
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3000
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20118
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 895
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5860
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP

19-12792585-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12792585
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12792585
    reference: chr 19
allele count: 1
allele frequency: 9.021037058420237e-6
allele num: 110852
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472122
  ensembl transcript: ENST00000601537
  gene symbol: DHPS
  hgvsc: ENST00000601537.1:c.-5G>C
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468889
  ensembl transcript: ENST00000595100
  gene symbol: DHPS
  hgvsc: ENST00000595100.1:c.-5G>C
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000210060
  ensembl transcript: ENST00000210060
  gene symbol: DHPS
  hgvsc: ENST00000210060.7:c.-5G>C
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000221303
  ensembl transcript: ENST00000351660
  gene symbol: DHPS
  hgvsc: ENST00000351660.5:c.-5G>C
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472330
  ensembl transcript: ENST00000601639
  gene symbol: DHPS
  hgvsc: ENST00000601639.1:c.-5G>C
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095059
  ensembl transcript: ENST00000593473
  gene symbol: DHPS
  hgvsc: ENST00000593473.1:n.83G>C
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468993
  ensembl transcript: ENST00000595912
  gene symbol: DHPS
  hgvsc: ENST00000595912.1:c.-5G>C
  variant of: http://identifiers.org/hgnc/2869
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22166
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19349
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5701
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5432
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3703
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 915
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37955
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1327
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1240
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

19-12792588-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12792588
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12792588
    reference: chr 19
allele count: 1
allele frequency: 9.075068970524176e-6
allele num: 110192
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095059
  ensembl transcript: ENST00000593473
  gene symbol: DHPS
  hgvsc: ENST00000593473.1:n.80A>G
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472122
  ensembl transcript: ENST00000601537
  gene symbol: DHPS
  hgvsc: ENST00000601537.1:c.-8A>G
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472330
  ensembl transcript: ENST00000601639
  gene symbol: DHPS
  hgvsc: ENST00000601639.1:c.-8A>G
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000210060
  ensembl transcript: ENST00000210060
  gene symbol: DHPS
  hgvsc: ENST00000210060.7:c.-8A>G
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468889
  ensembl transcript: ENST00000595100
  gene symbol: DHPS
  hgvsc: ENST00000595100.1:c.-8A>G
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468993
  ensembl transcript: ENST00000595912
  gene symbol: DHPS
  hgvsc: ENST00000595912.1:c.-8A>G
  variant of: http://identifiers.org/hgnc/2869
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19041
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3944
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5302
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21665
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8015
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1234
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5386
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1180
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ

19-12792589-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12792589
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12792589
    reference: chr 19
allele count: 26
allele frequency: 2.359132565102985e-4
allele num: 110210
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000210060
  ensembl transcript: ENST00000210060
  gene symbol: DHPS
  hgvsc: ENST00000210060.7:c.-9T>A
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468889
  ensembl transcript: ENST00000595100
  gene symbol: DHPS
  hgvsc: ENST00000595100.1:c.-9T>A
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468993
  ensembl transcript: ENST00000595912
  gene symbol: DHPS
  hgvsc: ENST00000595912.1:c.-9T>A
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095059
  ensembl transcript: ENST00000593473
  gene symbol: DHPS
  hgvsc: ENST00000593473.1:n.79T>A
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472122
  ensembl transcript: ENST00000601537
  gene symbol: DHPS
  hgvsc: ENST00000601537.1:c.-9T>A
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472330
  ensembl transcript: ENST00000601639
  gene symbol: DHPS
  hgvsc: ENST00000601639.1:c.-9T>A
  variant of: http://identifiers.org/hgnc/2869
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3966
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19056
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5270
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21669
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1126
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 984
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1175
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8067
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37478
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1454
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum

19-12792590-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12792590
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12792590
    reference: chr 19
allele count: 1
allele frequency: 9.1476243619532e-6
allele num: 109318
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468889
  ensembl transcript: ENST00000595100
  gene symbol: DHPS
  hgvsc: ENST00000595100.1:c.-10C>T
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000210060
  ensembl transcript: ENST00000210060
  gene symbol: DHPS
  hgvsc: ENST00000210060.7:c.-10C>T
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095059
  ensembl transcript: ENST00000593473
  gene symbol: DHPS
  hgvsc: ENST00000593473.1:n.78C>T
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468993
  ensembl transcript: ENST00000595912
  gene symbol: DHPS
  hgvsc: ENST00000595912.1:c.-10C>T
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472122
  ensembl transcript: ENST00000601537
  gene symbol: DHPS
  hgvsc: ENST00000601537.1:c.-10C>T
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472330
  ensembl transcript: ENST00000601639
  gene symbol: DHPS
  hgvsc: ENST00000601639.1:c.-10C>T
  variant of: http://identifiers.org/hgnc/2869
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4203
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6923
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5177
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20972
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18548
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1221
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1290
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1582
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5262
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum

19-12792591-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12792591
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12792591
    reference: chr 19
allele count: 20
allele frequency: 1.830563081203778e-4
allele num: 109256
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468889
  ensembl transcript: ENST00000595100
  gene symbol: DHPS
  hgvsc: ENST00000595100.1:c.-11G>A
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468993
  ensembl transcript: ENST00000595912
  gene symbol: DHPS
  hgvsc: ENST00000595912.1:c.-11G>A
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472330
  ensembl transcript: ENST00000601639
  gene symbol: DHPS
  hgvsc: ENST00000601639.1:c.-11G>A
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000210060
  ensembl transcript: ENST00000210060
  gene symbol: DHPS
  hgvsc: ENST00000210060.7:c.-11G>A
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472122
  ensembl transcript: ENST00000601537
  gene symbol: DHPS
  hgvsc: ENST00000601537.1:c.-11G>A
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095059
  ensembl transcript: ENST00000593473
  gene symbol: DHPS
  hgvsc: ENST00000593473.1:n.77G>A
  variant of: http://identifiers.org/hgnc/2869
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4233
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6920
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20908
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18548
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5210
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5221
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1590
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8704
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff

19-12792592-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12792592
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12792592
    reference: chr 19
allele count: 5
allele frequency: 4.58690347320331e-5
allele num: 109006
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472122
  ensembl transcript: ENST00000601537
  gene symbol: DHPS
  hgvsc: ENST00000601537.1:c.-12G>C
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472330
  ensembl transcript: ENST00000601639
  gene symbol: DHPS
  hgvsc: ENST00000601639.1:c.-12G>C
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468993
  ensembl transcript: ENST00000595912
  gene symbol: DHPS
  hgvsc: ENST00000595912.1:c.-12G>C
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468889
  ensembl transcript: ENST00000595100
  gene symbol: DHPS
  hgvsc: ENST00000595100.1:c.-12G>C
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000210060
  ensembl transcript: ENST00000210060
  gene symbol: DHPS
  hgvsc: ENST00000210060.7:c.-12G>C
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095059
  ensembl transcript: ENST00000593473
  gene symbol: DHPS
  hgvsc: ENST00000593473.1:n.76G>C
  variant of: http://identifiers.org/hgnc/2869
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18416
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4312
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7216
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5143
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20629
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1149
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 915
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1334
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1636
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8977
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1248
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5187
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

19-12792595-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12792595
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12792595
    reference: chr 19
allele count: 1
allele frequency: 9.252576842650678e-6
allele num: 108078
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095059
  ensembl transcript: ENST00000593473
  gene symbol: DHPS
  hgvsc: ENST00000593473.1:n.73G>A
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468889
  ensembl transcript: ENST00000595100
  gene symbol: DHPS
  hgvsc: ENST00000595100.1:c.-15G>A
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472122
  ensembl transcript: ENST00000601537
  gene symbol: DHPS
  hgvsc: ENST00000601537.1:c.-15G>A
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468993
  ensembl transcript: ENST00000595912
  gene symbol: DHPS
  hgvsc: ENST00000595912.1:c.-15G>A
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472330
  ensembl transcript: ENST00000601639
  gene symbol: DHPS
  hgvsc: ENST00000601639.1:c.-15G>A
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000210060
  ensembl transcript: ENST00000210060
  gene symbol: DHPS
  hgvsc: ENST00000210060.7:c.-15G>A
  variant of: http://identifiers.org/hgnc/2869
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18000
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4994
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1727
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4593
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19588
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1838
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34166
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9741
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1511
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

19-12792597-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12792597
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12792597
    reference: chr 19
allele count: 2
allele frequency: 1.859219871341985e-5
allele num: 107572
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000210060
  ensembl transcript: ENST00000210060
  gene symbol: DHPS
  hgvsc: ENST00000210060.7:c.-17G>A
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468993
  ensembl transcript: ENST00000595912
  gene symbol: DHPS
  hgvsc: ENST00000595912.1:c.-17G>A
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472330
  ensembl transcript: ENST00000601639
  gene symbol: DHPS
  hgvsc: ENST00000601639.1:c.-17G>A
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472122
  ensembl transcript: ENST00000601537
  gene symbol: DHPS
  hgvsc: ENST00000601537.1:c.-17G>A
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468889
  ensembl transcript: ENST00000595100
  gene symbol: DHPS
  hgvsc: ENST00000595100.1:c.-17G>A
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095059
  ensembl transcript: ENST00000593473
  gene symbol: DHPS
  hgvsc: ENST00000593473.1:n.71G>A
  variant of: http://identifiers.org/hgnc/2869
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8944
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4907
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4760
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18854
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17561
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1115
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1929
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32988
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5022
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1762
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1786
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 910
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10229
  bin: 2.25e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

19-12792599-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12792599
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12792599
    reference: chr 19
allele count: 2
allele frequency: 1.879028166632218e-5
allele num: 106438
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468889
  ensembl transcript: ENST00000595100
  gene symbol: DHPS
  hgvsc: ENST00000595100.1:c.-19G>C
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000210060
  ensembl transcript: ENST00000210060
  gene symbol: DHPS
  hgvsc: ENST00000210060.7:c.-19G>C
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472330
  ensembl transcript: ENST00000601639
  gene symbol: DHPS
  hgvsc: ENST00000601639.1:c.-19G>C
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472122
  ensembl transcript: ENST00000601537
  gene symbol: DHPS
  hgvsc: ENST00000601537.1:c.-19G>C
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468993
  ensembl transcript: ENST00000595912
  gene symbol: DHPS
  hgvsc: ENST00000595912.1:c.-19G>C
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095059
  ensembl transcript: ENST00000593473
  gene symbol: DHPS
  hgvsc: ENST00000593473.1:n.69G>C
  variant of: http://identifiers.org/hgnc/2869
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2006
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4997
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10523
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16610
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4852
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17218
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2406
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29969
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1089
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4791
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2161
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2338
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

19-12792600-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12792600
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12792600
    reference: chr 19
allele count: 1
allele frequency: 9.400439940589219e-6
allele num: 106378
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000210060
  ensembl transcript: ENST00000210060
  gene symbol: DHPS
  hgvsc: ENST00000210060.7:c.-20C>T
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468889
  ensembl transcript: ENST00000595100
  gene symbol: DHPS
  hgvsc: ENST00000595100.1:c.-20C>T
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095059
  ensembl transcript: ENST00000593473
  gene symbol: DHPS
  hgvsc: ENST00000593473.1:n.68C>T
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472330
  ensembl transcript: ENST00000601639
  gene symbol: DHPS
  hgvsc: ENST00000601639.1:c.-20C>T
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468993
  ensembl transcript: ENST00000595912
  gene symbol: DHPS
  hgvsc: ENST00000595912.1:c.-20C>T
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472122
  ensembl transcript: ENST00000601537
  gene symbol: DHPS
  hgvsc: ENST00000601537.1:c.-20C>T
  variant of: http://identifiers.org/hgnc/2869
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10591
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2363
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5025
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16687
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17132
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4809
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 910
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1115
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2322
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2185
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum

http://identifiers.org/exac.variant/19-12792604-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12792604
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12792604
    reference: chr 19
allele count: 1
allele frequency: 9.548909514533441e-6
allele num: 104724
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472122
  ensembl transcript: ENST00000601537
  gene symbol: DHPS
  hgvsc: ENST00000601537.1:c.-24G>T
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468993
  ensembl transcript: ENST00000595912
  gene symbol: DHPS
  hgvsc: ENST00000595912.1:c.-24G>T
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468889
  ensembl transcript: ENST00000595100
  gene symbol: DHPS
  hgvsc: ENST00000595100.1:c.-24G>T
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000210060
  ensembl transcript: ENST00000210060
  gene symbol: DHPS
  hgvsc: ENST00000210060.7:c.-24G>T
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095059
  ensembl transcript: ENST00000593473
  gene symbol: DHPS
  hgvsc: ENST00000593473.1:n.64G>T
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472330
  ensembl transcript: ENST00000601639
  gene symbol: DHPS
  hgvsc: ENST00000601639.1:c.-24G>T
  variant of: http://identifiers.org/hgnc/2869
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3740
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14835
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5356
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13341
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14358
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4504
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3530
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4410
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3115
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1758
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2641
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS

19-12792611-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12792611
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12792611
    reference: chr 19
allele count: 4
allele frequency: 3.917957960311086e-5
allele num: 102094
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468993
  ensembl transcript: ENST00000595912
  gene symbol: DHPS
  hgvsc: ENST00000595912.1:c.-31C>G
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095059
  ensembl transcript: ENST00000593473
  gene symbol: DHPS
  hgvsc: ENST00000593473.1:n.57C>G
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000210060
  ensembl transcript: ENST00000210060
  gene symbol: DHPS
  hgvsc: ENST00000210060.7:c.-31C>G
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472330
  ensembl transcript: ENST00000601639
  gene symbol: DHPS
  hgvsc: ENST00000601639.1:c.-31C>G
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468889
  ensembl transcript: ENST00000595100
  gene symbol: DHPS
  hgvsc: ENST00000595100.1:c.-31C>G
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472122
  ensembl transcript: ENST00000601537
  gene symbol: DHPS
  hgvsc: ENST00000601537.1:c.-31C>G
  variant of: http://identifiers.org/hgnc/2869
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16586
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7689
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2999
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11439
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10138
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5876
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3769
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3634
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 931
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4252
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5882
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3274
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 991
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18082
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13061
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

19-12792613-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12792613
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12792613
    reference: chr 19
allele count: 3
allele frequency: 2.945913036647158e-5
allele num: 101836
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095059
  ensembl transcript: ENST00000593473
  gene symbol: DHPS
  hgvsc: ENST00000593473.1:n.55G>A
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468889
  ensembl transcript: ENST00000595100
  gene symbol: DHPS
  hgvsc: ENST00000595100.1:c.-33G>A
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472330
  ensembl transcript: ENST00000601639
  gene symbol: DHPS
  hgvsc: ENST00000601639.1:c.-33G>A
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472122
  ensembl transcript: ENST00000601537
  gene symbol: DHPS
  hgvsc: ENST00000601537.1:c.-33G>A
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000210060
  ensembl transcript: ENST00000210060
  gene symbol: DHPS
  hgvsc: ENST00000210060.7:c.-33G>A
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468993
  ensembl transcript: ENST00000595912
  gene symbol: DHPS
  hgvsc: ENST00000595912.1:c.-33G>A
  variant of: http://identifiers.org/hgnc/2869
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16839
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5993
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3086
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11025
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8324
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3653
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9575
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13267
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6172
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 3283
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3386
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17652
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
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genotype quality: GenotypeQuality
  all individuals: 4357
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 980
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

19-12792614-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12792614
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12792614
    reference: chr 19
allele count: 2
allele frequency: 1.972230987693279e-5
allele num: 101408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472330
  ensembl transcript: ENST00000601639
  gene symbol: DHPS
  hgvsc: ENST00000601639.1:c.-34G>A
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095059
  ensembl transcript: ENST00000593473
  gene symbol: DHPS
  hgvsc: ENST00000593473.1:n.54G>A
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000210060
  ensembl transcript: ENST00000210060
  gene symbol: DHPS
  hgvsc: ENST00000210060.7:c.-34G>A
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472122
  ensembl transcript: ENST00000601537
  gene symbol: DHPS
  hgvsc: ENST00000601537.1:c.-34G>A
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468993
  ensembl transcript: ENST00000595912
  gene symbol: DHPS
  hgvsc: ENST00000595912.1:c.-34G>A
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468889
  ensembl transcript: ENST00000595100
  gene symbol: DHPS
  hgvsc: ENST00000595100.1:c.-34G>A
  variant of: http://identifiers.org/hgnc/2869
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8979
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10481
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9237
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3146
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6087
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17004
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3545
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1252
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genotype quality: GenotypeQuality
  all individuals: 4300
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 910
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 963
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13232
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 269
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

19-12792615-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12792615
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12792615
    reference: chr 19
allele count: 3
allele frequency: 2.986738879375573e-5
allele num: 100444
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468889
  ensembl transcript: ENST00000595100
  gene symbol: DHPS
  hgvsc: ENST00000595100.1:c.-35G>A
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472122
  ensembl transcript: ENST00000601537
  gene symbol: DHPS
  hgvsc: ENST00000601537.1:c.-35G>A
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472330
  ensembl transcript: ENST00000601639
  gene symbol: DHPS
  hgvsc: ENST00000601639.1:c.-35G>A
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000210060
  ensembl transcript: ENST00000210060
  gene symbol: DHPS
  hgvsc: ENST00000210060.7:c.-35G>A
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468993
  ensembl transcript: ENST00000595912
  gene symbol: DHPS
  hgvsc: ENST00000595912.1:c.-35G>A
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095059
  ensembl transcript: ENST00000593473
  gene symbol: DHPS
  hgvsc: ENST00000593473.1:n.53G>A
  variant of: http://identifiers.org/hgnc/2869
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3320
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9314
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6324
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7960
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 329
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5120
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 12824
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4620
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2913
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 995
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3654
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

19-12792616-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12792616
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12792616
    reference: chr 19
allele count: 1
allele frequency: 9.951833127662116e-6
allele num: 100484
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472330
  ensembl transcript: ENST00000601639
  gene symbol: DHPS
  hgvsc: ENST00000601639.1:c.-36A>C
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468993
  ensembl transcript: ENST00000595912
  gene symbol: DHPS
  hgvsc: ENST00000595912.1:c.-36A>C
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472122
  ensembl transcript: ENST00000601537
  gene symbol: DHPS
  hgvsc: ENST00000601537.1:c.-36A>C
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000210060
  ensembl transcript: ENST00000210060
  gene symbol: DHPS
  hgvsc: ENST00000210060.7:c.-36A>C
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468889
  ensembl transcript: ENST00000595100
  gene symbol: DHPS
  hgvsc: ENST00000595100.1:c.-36A>C
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095059
  ensembl transcript: ENST00000593473
  gene symbol: DHPS
  hgvsc: ENST00000593473.1:n.52A>C
  variant of: http://identifiers.org/hgnc/2869
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3301
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9327
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3275
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7988
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6369
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17131
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11094
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4621
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 962
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1588
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 967
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7044
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3658
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12925
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5107
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

http://identifiers.org/exac.variant/19-12792617-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12792617
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12792617
    reference: chr 19
allele count: 1
allele frequency: 9.940160235382994e-6
allele num: 100602
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472122
  ensembl transcript: ENST00000601537
  gene symbol: DHPS
  hgvsc: ENST00000601537.1:c.-37T>G
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000210060
  ensembl transcript: ENST00000210060
  gene symbol: DHPS
  hgvsc: ENST00000210060.7:c.-37T>G
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472330
  ensembl transcript: ENST00000601639
  gene symbol: DHPS
  hgvsc: ENST00000601639.1:c.-37T>G
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468993
  ensembl transcript: ENST00000595912
  gene symbol: DHPS
  hgvsc: ENST00000595912.1:c.-37T>G
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468889
  ensembl transcript: ENST00000595100
  gene symbol: DHPS
  hgvsc: ENST00000595100.1:c.-37T>G
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095059
  ensembl transcript: ENST00000593473
  gene symbol: DHPS
  hgvsc: ENST00000593473.1:n.51T>G
  variant of: http://identifiers.org/hgnc/2869
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3318
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7992
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3247
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9335
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11056
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6403
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13095
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4624
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14373
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 971
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1576
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5093
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 963
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1330
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2906
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

19-12792617-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12792617
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12792617
    reference: chr 19
allele count: 4
allele frequency: 3.976064094153198e-5
allele num: 100602
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468889
  ensembl transcript: ENST00000595100
  gene symbol: DHPS
  hgvsc: ENST00000595100.1:c.-37T>C
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095059
  ensembl transcript: ENST00000593473
  gene symbol: DHPS
  hgvsc: ENST00000593473.1:n.51T>C
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472330
  ensembl transcript: ENST00000601639
  gene symbol: DHPS
  hgvsc: ENST00000601639.1:c.-37T>C
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472122
  ensembl transcript: ENST00000601537
  gene symbol: DHPS
  hgvsc: ENST00000601537.1:c.-37T>C
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000210060
  ensembl transcript: ENST00000210060
  gene symbol: DHPS
  hgvsc: ENST00000210060.7:c.-37T>C
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468993
  ensembl transcript: ENST00000595912
  gene symbol: DHPS
  hgvsc: ENST00000595912.1:c.-37T>C
  variant of: http://identifiers.org/hgnc/2869
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6403
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7992
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3247
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9335
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3318
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11056
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3683
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13095
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 912
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5093
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP

19-12792622-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12792622
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12792622
    reference: chr 19
allele count: 1
allele frequency: 1.028785415937944e-5
allele num: 97202
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000210060
  ensembl transcript: ENST00000210060
  gene symbol: DHPS
  hgvsc: ENST00000210060.7:c.-42C>T
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472122
  ensembl transcript: ENST00000601537
  gene symbol: DHPS
  hgvsc: ENST00000601537.1:c.-42C>T
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468889
  ensembl transcript: ENST00000595100
  gene symbol: DHPS
  hgvsc: ENST00000595100.1:c.-42C>T
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468993
  ensembl transcript: ENST00000595912
  gene symbol: DHPS
  hgvsc: ENST00000595912.1:c.-42C>T
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095059
  ensembl transcript: ENST00000593473
  gene symbol: DHPS
  hgvsc: ENST00000593473.1:n.46C>T
  variant of: http://identifiers.org/hgnc/2869
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2701
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6360
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3519
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16327
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14910
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7529
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7072
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8587
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4792
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1495
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1637
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3126
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2668
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7656
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11644
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP

19-12792622-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12792622
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 12792622
    reference: chr 19
allele count: 1
allele frequency: 1.028785415937944e-5
allele num: 97202
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095059
  ensembl transcript: ENST00000593473
  gene symbol: DHPS
  hgvsc: ENST00000593473.1:n.46C>G
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468889
  ensembl transcript: ENST00000595100
  gene symbol: DHPS
  hgvsc: ENST00000595100.1:c.-42C>G
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000210060
  ensembl transcript: ENST00000210060
  gene symbol: DHPS
  hgvsc: ENST00000210060.7:c.-42C>G
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000472122
  ensembl transcript: ENST00000601537
  gene symbol: DHPS
  hgvsc: ENST00000601537.1:c.-42C>G
  variant of: http://identifiers.org/hgnc/2869
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095059
  ensembl protein: ENSP00000468993
  ensembl transcript: ENST00000595912
  gene symbol: DHPS
  hgvsc: ENST00000595912.1:c.-42C>G
  variant of: http://identifiers.org/hgnc/2869
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16327
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6360
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14910
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7529
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7072
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3519
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2701
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2668
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4021
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8587
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3126
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4792
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1637
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1495
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6640
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11644
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: G

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

GenotypeQuality
all individuals: 733
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1556
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66606
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6522
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.471e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.66e-1

FS
type: SiteQuality
SIO_000300: 1.658e0

DP
type: SiteQuality
SIO_000300: 1.545484e6

QD
type: SiteQuality
SIO_000300: 1.26e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

VQSLOD
type: SiteQuality
SIO_000300: -2.987e-1

MQ
type: SiteQuality
SIO_000300: 5.94e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.47e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 944
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501321162623108e-5
allele num: 66608
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.33e-1

MQ
type: SiteQuality
SIO_000300: 5.897e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.95e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.57e-1

FS
type: SiteQuality
SIO_000300: 2.727e0

QD
type: SiteQuality
SIO_000300: 1.452e1

MQRankSum
type: SiteQuality
SIO_000300: 4.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.7e-2

DP
type: SiteQuality
SIO_000300: 1.545458e6

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

GenotypeQuality
all individuals: 1549
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501366243281386e-5
allele num: 66606
num of homozygotes: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6528
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.71e0

FS
type: SiteQuality
SIO_000300: 5.066e0

VQSLOD
type: SiteQuality
SIO_000300: -1.438e-1

QD
type: SiteQuality
SIO_000300: 1.02e1

DP
type: SiteQuality
SIO_000300: 1.545806e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.38e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

MQRankSum
type: SiteQuality
SIO_000300: 1.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 5.96e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 56
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6909
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variant carriers: 0

GenotypeQuality
all individuals: 944
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 349
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501411326647048e-5
allele num: 66604
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -8.338e-1

QD
type: SiteQuality
SIO_000300: 9.359999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.952e0

MQRankSum
type: SiteQuality
SIO_000300: -7.9e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.545791e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 8.887e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.58e-1

GenotypeQuality
all individuals: 54
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 278
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variant carriers: 0

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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variant carriers: 0

GenotypeQuality
all individuals: 50
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 21
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1546
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 9.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6528
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501636784094663e-5
allele num: 66594
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.235e1

DP
type: SiteQuality
SIO_000300: 1.546237e6

MQRankSum
type: SiteQuality
SIO_000300: -7.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.82e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.03e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

GenotypeQuality
all individuals: 21
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

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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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6528
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501636784094663e-5
allele num: 66594
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.82e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.91e-1

QD
type: SiteQuality
SIO_000300: 1.235e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.546237e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 8.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.03e-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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variant carriers: 0

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

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

Other
type: Population
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allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66596
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10384
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South Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.132e0

VQSLOD
type: SiteQuality
SIO_000300: 1.8e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

DP
type: SiteQuality
SIO_000300: 1.545998e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.176e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.3e-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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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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bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66602
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.028467595396729e-4
allele num: 16510
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.13e-1

MQRankSum
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FS
type: SiteQuality
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ClippingRankSum
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DP
type: SiteQuality
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QD
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VQSLOD
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InbreedingCoeff
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SIO_000300: -1.0e-4

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

South Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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African
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allele frequency: 9.641342074816814e-5
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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FS
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MQ
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DP
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VQSLOD
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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QD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66548
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African
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European (Finnish)
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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East Asian
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InbreedingCoeff
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MQ
type: SiteQuality
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MQRankSum
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FS
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VQSLOD
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ClippingRankSum
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DP
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BaseQRankSum
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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African
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European (Non-Finnish)
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South Asian
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allele num: 16510
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European (Finnish)
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allele frequency: 0.0e0
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Other
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DP
type: SiteQuality
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ClippingRankSum
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QD
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MQRankSum
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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MQ
type: SiteQuality
SIO_000300: 5.809e1

FS
type: SiteQuality
SIO_000300: 3.855e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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allele frequency: 1.933114247052001e-4
allele num: 10346
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Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
allele num: 8636
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

Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.504800312998465e-5
allele num: 66454
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
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FS
type: SiteQuality
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MQRankSum
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DP
type: SiteQuality
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ReadPosRankSum
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MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
allele num: 10346
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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South Asian
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allele num: 16508
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Other
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East Asian
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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QD
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InbreedingCoeff
type: SiteQuality
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VQSLOD
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MQ
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MQRankSum
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DP
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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African
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allele num: 10340
num of homozygotes: 0

South Asian
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East Asian
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European (Finnish)
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Other
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Latino
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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MQ
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FS
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InbreedingCoeff
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BaseQRankSum
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DP
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QD
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ClippingRankSum
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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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GenotypeQuality
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South Asian
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European (Non-Finnish)
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East Asian
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Other
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European (Finnish)
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African
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Latino
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ReadPosRankSum
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ClippingRankSum
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MQ
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QD
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BaseQRankSum
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MQRankSum
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FS
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InbreedingCoeff
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DP
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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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GenotypeQuality
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East Asian
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Other
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South Asian
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European (Non-Finnish)
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Latino
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African
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European (Finnish)
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VQSLOD
type: SiteQuality
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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FS
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MQ
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BaseQRankSum
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DP
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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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African
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Latino
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East Asian
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European (Non-Finnish)
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Other
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European (Finnish)
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South Asian
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allele num: 16504
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MQ
type: SiteQuality
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QD
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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SIO_000300: 3.32e0

MQRankSum
type: SiteQuality
SIO_000300: 2.28e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.534669e6

GenotypeQuality
all individuals: 23
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
all individuals: 933
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1079
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.689607229753215e-5
allele num: 11508
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10240
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66006
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6490
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.66e-1

FS
type: SiteQuality
SIO_000300: 8.159999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.529496e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.279e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -4.227e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.415e0

MQ
type: SiteQuality
SIO_000300: 5.912e1

QD
type: SiteQuality
SIO_000300: 1.027e1

GenotypeQuality
all individuals: 6708
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
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GenotypeQuality
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bin: 4.75e1
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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variant carriers: 8

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10236
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.817741153659719e-4
allele num: 16504
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6490
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.574609907589759e-5
allele num: 66010
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.53e6

FS
type: SiteQuality
SIO_000300: 2.454e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.24e0

QD
type: SiteQuality
SIO_000300: 1.172e1

MQ
type: SiteQuality
SIO_000300: 5.96e1

GenotypeQuality
all individuals: 59
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 161
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 341
bin: 9.25e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 15

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6675
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 2.12243412874079e-4
allele num: 65962
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6478
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.698677800974252e-5
allele num: 11496
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10218
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.28e0

MQRankSum
type: SiteQuality
SIO_000300: -8.9e-2

FS
type: SiteQuality
SIO_000300: 1.751e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.346e0

DP
type: SiteQuality
SIO_000300: 1.528063e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 1.131e1

GenotypeQuality
all individuals: 46837
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6638
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 16
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GenotypeQuality
all individuals: 265
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GenotypeQuality
all individuals: 47
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GenotypeQuality
all individuals: 42
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GenotypeQuality
all individuals: 929
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
all individuals: 699
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variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6458
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.554563672800146e-5
allele num: 65868
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10192
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11478
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8538
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 9.82e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.64e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.12e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.16e1

DP
type: SiteQuality
SIO_000300: 1.523563e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.6e-1

GenotypeQuality
all individuals: 1518
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 186
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variant carriers: 0

GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 23
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variant carriers: 0

GenotypeQuality
all individuals: 204
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GenotypeQuality
all individuals: 1366
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variant carriers: 0

GenotypeQuality
all individuals: 1456
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variant carriers: 0

GenotypeQuality
all individuals: 339
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GenotypeQuality
all individuals: 698
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variant carriers: 0

GenotypeQuality
all individuals: 77
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variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6444
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10158
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520727516043675e-5
allele num: 65758
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.782e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.182e0

QD
type: SiteQuality
SIO_000300: 1.19e1

DP
type: SiteQuality
SIO_000300: 1.520362e6

VQSLOD
type: SiteQuality
SIO_000300: 5.16e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.28e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.0e-3

GenotypeQuality
all individuals: 1555
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1368
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6615
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 39
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variant carriers: 0

GenotypeQuality
all individuals: 52
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variant carriers: 0

GenotypeQuality
all individuals: 1457
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variant carriers: 0

GenotypeQuality
all individuals: 60
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variant carriers: 0

GenotypeQuality
all individuals: 698
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variant carriers: 0

GenotypeQuality
all individuals: 74
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variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8520
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.970831690973591e-4
allele num: 10148
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65746
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6442
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.177e0

MQRankSum
type: SiteQuality
SIO_000300: 1.33e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e0

QD
type: SiteQuality
SIO_000300: 8.56e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 7.2e-1

MQ
type: SiteQuality
SIO_000300: 5.787e1

DP
type: SiteQuality
SIO_000300: 1.519637e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

GenotypeQuality
all individuals: 131
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 16
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variant carriers: 0

GenotypeQuality
all individuals: 30
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variant carriers: 0

GenotypeQuality
all individuals: 228
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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: 339
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variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.877518767285657e-5
allele num: 10124
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6438
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65690
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11462
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.876e0

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-1

MQ
type: SiteQuality
SIO_000300: 5.952e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.02e-1

QD
type: SiteQuality
SIO_000300: 1.22e1

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.42e-1

DP
type: SiteQuality
SIO_000300: 1.517864e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.178e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

GenotypeQuality
all individuals: 17
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variant carriers: 0

GenotypeQuality
all individuals: 5
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GenotypeQuality
all individuals: 44
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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
all individuals: 6601
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 698
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11462
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.174812030075188e-4
allele num: 8512
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6436
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65652
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10120
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.19e-1

QD
type: SiteQuality
SIO_000300: 1.135e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.4e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

DP
type: SiteQuality
SIO_000300: 1.51664e6

FS
type: SiteQuality
SIO_000300: 1.738e0

VQSLOD
type: SiteQuality
SIO_000300: 2.51e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.78e-1

GenotypeQuality
all individuals: 103
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 267
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1886
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variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.526111772426212e-5
allele num: 65526
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10068
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6424
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11458
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.27e-1

QD
type: SiteQuality
SIO_000300: 9.27e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.74e-1

FS
type: SiteQuality
SIO_000300: 3.616e0

DP
type: SiteQuality
SIO_000300: 1.512261e6

VQSLOD
type: SiteQuality
SIO_000300: 9.350000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.25e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.768e0

GenotypeQuality
all individuals: 31
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 196
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GenotypeQuality
all individuals: 2036
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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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bin: 5.25e1
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6414
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11454
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.647130796525144e-5
allele num: 65384
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10030
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.44e0

DP
type: SiteQuality
SIO_000300: 1.508218e6

MQ
type: SiteQuality
SIO_000300: 5.965e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.48e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.07e-1

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.368e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 11434
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6370
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9890
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.539788125153979e-5
allele num: 64944
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.497005e6

VQSLOD
type: SiteQuality
SIO_000300: -1.567e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.6e-1

MQ
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SIO_000300: 5.98e1

QD
type: SiteQuality
SIO_000300: 1.151e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.935e0

FS
type: SiteQuality
SIO_000300: 1.2102e1

MQRankSum
type: SiteQuality
SIO_000300: 4.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.03e-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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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11422
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9812
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6348
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.544449249397665e-5
allele num: 64748
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8442
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
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South Asian
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allele count: 8
allele frequency: 4.860267314702309e-4
allele num: 16460
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.28e0

MQ
type: SiteQuality
SIO_000300: 5.981e1

DP
type: SiteQuality
SIO_000300: 1.494849e6

QD
type: SiteQuality
SIO_000300: 1.085e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 8.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.11e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9822
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6352
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11422
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8444
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16458
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.177606177606178e-5
allele num: 64750
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.936e1

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

VQSLOD
type: SiteQuality
SIO_000300: -3.897e-1

QD
type: SiteQuality
SIO_000300: 8.220000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.087e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e0

FS
type: SiteQuality
SIO_000300: 7.91e-1

DP
type: SiteQuality
SIO_000300: 1.492571e6

GenotypeQuality
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bin: 6.25e1
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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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16458
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.753501400560224e-5
allele num: 11424
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.544306143249838e-5
allele num: 64754
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8440
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9818
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.71e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.196e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.588e0

DP
type: SiteQuality
SIO_000300: 1.491897e6

MQRankSum
type: SiteQuality
SIO_000300: 9.9e-2

FS
type: SiteQuality
SIO_000300: 1.3547e1

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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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9818
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16458
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11424
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8440
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.544306143249838e-5
allele num: 64754
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.588e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.71e-1

DP
type: SiteQuality
SIO_000300: 1.491897e6

MQRankSum
type: SiteQuality
SIO_000300: 9.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

FS
type: SiteQuality
SIO_000300: 1.3547e1

ClippingRankSum
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MQ
type: SiteQuality
SIO_000300: 6.0e1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6308
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.764241893076249e-5
allele num: 11410
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 1
allele frequency: 6.077549532028686e-5
allele num: 16454
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64448
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.969e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.94e-1

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.676e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.49e-1

DP
type: SiteQuality
SIO_000300: 1.48559e6

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

Latino
type: Population
allele count: 1
allele frequency: 8.764241893076249e-5
allele num: 11410
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.754342431761787e-5
allele num: 64480
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6318
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8410
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9698
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South Asian
type: Population
allele count: 6
allele frequency: 3.646529719217211e-4
allele num: 16454
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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MQ
type: SiteQuality
SIO_000300: 5.985e1

InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.679999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.9e-1

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6296
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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East Asian
type: Population
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South Asian
type: Population
allele count: 1
allele frequency: 6.081245439065921e-5
allele num: 16444
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64376
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ReadPosRankSum
type: SiteQuality
SIO_000300: 6.2e-1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
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MQ
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

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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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64288
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8376
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9652
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.216989168796398e-4
allele num: 16434
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11392
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6270
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.54e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.873e0

MQRankSum
type: SiteQuality
SIO_000300: 7.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.409e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

DP
type: SiteQuality
SIO_000300: 1.479744e6

QD
type: SiteQuality
SIO_000300: 9.869999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: 5.620000000000001e-1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 7.75e1
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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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bin: 5.75e1
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.55550024888004e-5
allele num: 64288
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9652
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11392
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16434
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6270
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8376
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.869999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 7.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.620000000000001e-1

FS
type: SiteQuality
SIO_000300: 4.873e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.479744e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.409e0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
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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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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6270
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64288
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11392
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.084945843981989e-5
allele num: 16434
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9652
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8376
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.620000000000001e-1

FS
type: SiteQuality
SIO_000300: 4.873e0

MQRankSum
type: SiteQuality
SIO_000300: 7.25e-1

DP
type: SiteQuality
SIO_000300: 1.479744e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.02e-1

QD
type: SiteQuality
SIO_000300: 9.869999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.409e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.54e-1

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
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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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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8366
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64242
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9648
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6252
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.085686465433301e-5
allele num: 16432
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11390
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.87e-1

FS
type: SiteQuality
SIO_000300: 7.68e-1

DP
type: SiteQuality
SIO_000300: 1.478366e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.36e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.8e-1

QD
type: SiteQuality
SIO_000300: 1.252e1

VQSLOD
type: SiteQuality
SIO_000300: 9.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 121
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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
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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: 102
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GenotypeQuality
all individuals: 924
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variant carriers: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9646
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.196172248803828e-4
allele num: 8360
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11392
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6256
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64254
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16432
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.13e-1

FS
type: SiteQuality
SIO_000300: 3.319e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.144e1

DP
type: SiteQuality
SIO_000300: 1.478161e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.115e0

MQRankSum
type: SiteQuality
SIO_000300: 1.49e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.01e-1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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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bin: 2.25e1
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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
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
all individuals: 101
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16432
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9646
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6254
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11388
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8362
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.557292802192668e-5
allele num: 64214
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.12e0

QD
type: SiteQuality
SIO_000300: 1.314e1

MQRankSum
type: SiteQuality
SIO_000300: -2.22e-1

DP
type: SiteQuality
SIO_000300: 1.478383e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.61e0

FS
type: SiteQuality
SIO_000300: 1.81e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 8.080000000000001e-1

GenotypeQuality
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bin: 3.25e1
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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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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bin: 7.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16432
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8362
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11388
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6254
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9646
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.557292802192668e-5
allele num: 64214
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.080000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.478383e6

MQRankSum
type: SiteQuality
SIO_000300: -2.22e-1

FS
type: SiteQuality
SIO_000300: 1.81e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.314e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.393489707994256e-4
allele num: 8356
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64184
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6250
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11392
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9640
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16430
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.56e0

VQSLOD
type: SiteQuality
SIO_000300: 1.33e0

FS
type: SiteQuality
SIO_000300: 4.53e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.7e-1

QD
type: SiteQuality
SIO_000300: 1.321e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.477335e6

GenotypeQuality
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bin: 7.25e1
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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variant carriers: 1

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63980
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6198
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.087909411907951e-5
allele num: 16426
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11366
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8330
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.215e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.39e-1

QD
type: SiteQuality
SIO_000300: 2.01e1

FS
type: SiteQuality
SIO_000300: 4.153e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.06e0

MQRankSum
type: SiteQuality
SIO_000300: 5.6e-2

MQ
type: SiteQuality
SIO_000300: 5.935e1

DP
type: SiteQuality
SIO_000300: 1.470925e6

GenotypeQuality
all individuals: 431
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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GenotypeQuality
all individuals: 409
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variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 2.5e0
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GenotypeQuality
all individuals: 49
bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 3605
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variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.138928997426078e-5
allele num: 63716
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9516
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 850
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South Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e0

DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
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BaseQRankSum
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SIO_000300: 2.23e-1

FS
type: SiteQuality
SIO_000300: 4.217e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

QD
type: SiteQuality
SIO_000300: 1.032e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.64e-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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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16412
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9516
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11352
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6170
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.569464498713039e-5
allele num: 63716
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 850
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8306
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.02e-1

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.217e0

VQSLOD
type: SiteQuality
SIO_000300: 7.64e-1

InbreedingCoeff
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SIO_000300: 2.3e-3

BaseQRankSum
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SIO_000300: 2.23e-1

DP
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QD
type: SiteQuality
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ClippingRankSum
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MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1
allele frequency: 6.095330976472023e-5
allele num: 16406
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.812125484666901e-5
allele num: 11348
num of homozygotes: 0

African
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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: 848
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6150
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

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
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DP
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SIO_000300: 1.463346e6

InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.644e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.6e-2

MQ
type: SiteQuality
SIO_000300: 5.972e1

QD
type: SiteQuality
SIO_000300: 2.467e1

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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variant carriers: 2

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9452
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11312
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6118
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.153181560194236e-5
allele num: 63428
num of homozygotes: 0

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

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 4.757e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.011e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.56e0

VQSLOD
type: SiteQuality
SIO_000300: 4.0e-2

DP
type: SiteQuality
SIO_000300: 1.457965e6

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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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11310
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9434
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.57773500362879e-5
allele num: 63382
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6110
num of homozygotes: 0

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.17e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.367e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 1.456453e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.16e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 836
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11276
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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African
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allele frequency: 0.0e0
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East Asian
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allele count: 1
allele frequency: 1.22040517451794e-4
allele num: 8194
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63064
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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DP
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QD
type: SiteQuality
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BaseQRankSum
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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East Asian
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.595710729558946e-5
allele num: 62668
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European (Finnish)
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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FS
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
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QD
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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South Asian
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allele frequency: 6.156877231867996e-5
allele num: 16242
num of homozygotes: 0

European (Non-Finnish)
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East Asian
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allele frequency: 2.48015873015873e-4
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Latino
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Other
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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QD
type: SiteQuality
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BaseQRankSum
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MQ
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Latino
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European (Non-Finnish)
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East Asian
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African
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Other
type: Population
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South Asian
type: Population
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ClippingRankSum
type: SiteQuality
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MQRankSum
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FS
type: SiteQuality
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QD
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ReadPosRankSum
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InbreedingCoeff
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DP
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VQSLOD
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MQ
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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European (Non-Finnish)
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East Asian
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allele frequency: 1.269035532994924e-4
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Latino
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European (Finnish)
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South Asian
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MQRankSum
type: SiteQuality
SIO_000300: 3.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.326e0

QD
type: SiteQuality
SIO_000300: 1.871e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.27e0

DP
type: SiteQuality
SIO_000300: 1.359699e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.788e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e0

MQ
type: SiteQuality
SIO_000300: 5.92e1

GenotypeQuality
all individuals: 152
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 940
bin: 9.75e1
variant carriers: 26

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1232
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5382
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 9.154155986818015e-5
allele num: 10924
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8460
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.538071065989848e-4
allele num: 7880
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16086
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 22
allele frequency: 3.643952694868652e-4
allele num: 60374
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.759943681802182e-4
allele num: 5682
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.359538e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.36e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

QD
type: SiteQuality
SIO_000300: 1.333e1

MQRankSum
type: SiteQuality
SIO_000300: 7.7e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.403e0

GenotypeQuality
all individuals: 914
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 328
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GenotypeQuality
all individuals: 153
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16040
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7826
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.670843776106934e-5
allele num: 59850
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5650
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10840
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8312
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.71e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

DP
type: SiteQuality
SIO_000300: 1.341323e6

MQRankSum
type: SiteQuality
SIO_000300: 4.89e-1

MQ
type: SiteQuality
SIO_000300: 5.907e1

QD
type: SiteQuality
SIO_000300: 9.44e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.697e0

GenotypeQuality
all individuals: 208
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 267
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1157
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variant carriers: 0

GenotypeQuality
all individuals: 930
bin: 9.75e1
variant carriers: 20

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7826
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8302
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.687995574405311e-4
allele num: 10846
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16034
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5628
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.674690738883316e-4
allele num: 59820
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.75e0

QD
type: SiteQuality
SIO_000300: 1.377e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.8e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.129999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.93e0

DP
type: SiteQuality
SIO_000300: 1.341546e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 249
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GenotypeQuality
all individuals: 636
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16022
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 6.045949214026602e-4
allele num: 8270
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5624
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10816
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59680
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7802
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.497e0

QD
type: SiteQuality
SIO_000300: 1.392e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.84e-1

DP
type: SiteQuality
SIO_000300: 1.334296e6

VQSLOD
type: SiteQuality
SIO_000300: 9.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.42e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.002e0

GenotypeQuality
all individuals: 627
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1169
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variant carriers: 0

GenotypeQuality
all individuals: 1572
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5068
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variant carriers: 0

GenotypeQuality
all individuals: 274
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variant carriers: 0

GenotypeQuality
all individuals: 1117
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variant carriers: 0

GenotypeQuality
all individuals: 910
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7758
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5556
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10714
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59120
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8162
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.257822277847309e-5
allele num: 15980
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.08e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.47e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.425e1

VQSLOD
type: SiteQuality
SIO_000300: 1.78e0

DP
type: SiteQuality
SIO_000300: 1.31186e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.804e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.2e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 106
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 627
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 249
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variant carriers: 0

GenotypeQuality
all individuals: 184
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variant carriers: 0

GenotypeQuality
all individuals: 1162
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.295672454003628e-4
allele num: 7718
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10658
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8104
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15954
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5528
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.70004420114923e-5
allele num: 58822
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.883e0

FS
type: SiteQuality
SIO_000300: 3.993e0

QD
type: SiteQuality
SIO_000300: 1.01e1

VQSLOD
type: SiteQuality
SIO_000300: -1.432e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.295578e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.56e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e-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
all individuals: 911
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variant carriers: 2

GenotypeQuality
all individuals: 431
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GenotypeQuality
all individuals: 248
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GenotypeQuality
all individuals: 1132
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 778
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.513826043237808e-4
allele num: 7956
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5448
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15894
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58194
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7624
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.39e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.79e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.1e-1

DP
type: SiteQuality
SIO_000300: 1.26398e6

FS
type: SiteQuality
SIO_000300: 5.806e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.53e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.94e-1

QD
type: SiteQuality
SIO_000300: 1.403e1

GenotypeQuality
all individuals: 163
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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
all individuals: 1079
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GenotypeQuality
all individuals: 2254
bin: 2.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5462
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10534
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7604
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.719749604457591e-5
allele num: 58148
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7946
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15904
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.553e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.35e-1

FS
type: SiteQuality
SIO_000300: 1.764e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.647e0

DP
type: SiteQuality
SIO_000300: 1.26301e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.11e-1

GenotypeQuality
all individuals: 1063
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1045
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variant carriers: 0

GenotypeQuality
all individuals: 598
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GenotypeQuality
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GenotypeQuality
all individuals: 401
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GenotypeQuality
all individuals: 909
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
all individuals: 25525
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15830
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10336
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5348
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57188
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7758
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.333333333333333e-4
allele num: 7500
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 6.92e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.166e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.24e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.95e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.25e0

DP
type: SiteQuality
SIO_000300: 1.201736e6

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

FS
type: SiteQuality
SIO_000300: 2.033e0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 755
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 245
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variant carriers: 0

GenotypeQuality
all individuals: 583
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variant carriers: 0

GenotypeQuality
all individuals: 326
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GenotypeQuality
all individuals: 671
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variant carriers: 0

GenotypeQuality
all individuals: 912
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 3371
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 734
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15692
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10092
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55632
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5158
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 5.34045393858478e-4
allele num: 7490
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7296
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.56e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.6e-2

DP
type: SiteQuality
SIO_000300: 1.10394e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.34e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.24e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.7e-3

QD
type: SiteQuality
SIO_000300: 1.559e1

GenotypeQuality
all individuals: 818
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 911
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1111
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 583
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 566
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3921
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 908
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.366120218579235e-3
allele num: 732
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7266
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.680246582685607e-4
allele num: 7462
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15666
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10078
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55482
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5150
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.426e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

QD
type: SiteQuality
SIO_000300: 1.437e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.047e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.091035e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 6483
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3214
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 966
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4467
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16470
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3479
bin: 7.5e0
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7218
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15630
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10026
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 728
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7422
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5124
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.619254433586681e-5
allele num: 55260
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.65e-1

QD
type: SiteQuality
SIO_000300: 1.464e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.393e0

DP
type: SiteQuality
SIO_000300: 1.078131e6

MQ
type: SiteQuality
SIO_000300: 5.92e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e0

FS
type: SiteQuality
SIO_000300: 3.072e0

VQSLOD
type: SiteQuality
SIO_000300: -7.89e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.07e-1

GenotypeQuality
all individuals: 243
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1355
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13581
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 796
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 963
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7042
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 911
bin: 9.75e1
variant carriers: 3

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54698
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7330
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5062
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 4.185267857142857e-4
allele num: 7168
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9892
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.996e0

DP
type: SiteQuality
SIO_000300: 1.051925e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.399999999999999e-3

VQSLOD
type: SiteQuality
SIO_000300: 8.41e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.97e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.41e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.65e-1

QD
type: SiteQuality
SIO_000300: 1.324e1

GenotypeQuality
all individuals: 13954
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 579
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2909
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1359
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 863
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 909
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 325
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54736
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.419309282321222e-5
allele num: 15578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7308
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7164
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 718
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5062
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9918
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.91e-1

DP
type: SiteQuality
SIO_000300: 1.050796e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.42e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.67e-1

QD
type: SiteQuality
SIO_000300: 1.437e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 7.43e-1

GenotypeQuality
all individuals: 409
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7049
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 860
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3683
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 579
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 912
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7180
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.365001365001365e-4
allele num: 7326
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15594
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5072
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9932
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54774
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 724
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.25e-1

DP
type: SiteQuality
SIO_000300: 1.049932e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.04e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.45e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.287e1

FS
type: SiteQuality
SIO_000300: 5.552e0

VQSLOD
type: SiteQuality
SIO_000300: 9.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.444e0

GenotypeQuality
all individuals: 971
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4624
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7049
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1330
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 963
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2906
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14373
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1576
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7326
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.565089136847505e-4
allele num: 15594
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5072
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9932
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7180
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 724
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54774
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.04e-2

QD
type: SiteQuality
SIO_000300: 1.287e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.444e0

FS
type: SiteQuality
SIO_000300: 5.552e0

DP
type: SiteQuality
SIO_000300: 1.049932e6

GenotypeQuality
all individuals: 4021
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6640
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 572
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2435
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 907
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 698
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9510
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15370
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4828
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7020
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6918
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.89186121306141e-5
allele num: 52858
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.148e0

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

QD
type: SiteQuality
SIO_000300: 1.155e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.29e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.67e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 9.94343e5

GenotypeQuality
all individuals: 2435
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 812
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 919
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 948
bin: 5.25e1
variant carriers: 0