2-242674794-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242674794
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242674794
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 29988
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000442796
  ensembl transcript: ENST00000537090
  gene symbol: D2HGDH
  hgvsc: ENST00000537090.1:c.155A>G
  hgvsp: ENSP00000442796.1:p.Tyr52Cys
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000384723
  ensembl transcript: ENST00000403782
  gene symbol: D2HGDH
  hgvsc: ENST00000403782.1:c.-111+684A>G
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000315351
  ensembl transcript: ENST00000321264
  gene symbol: D2HGDH
  hgvsc: ENST00000321264.4:c.155A>G
  hgvsp: ENSP00000315351.4:p.Tyr52Cys
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000339536
  ensembl transcript: ENST00000342518
  gene symbol: D2HGDH
  hgvsc: ENST00000342518.6:c.155A>G
  hgvsp: ENSP00000339536.6:p.Tyr52Cys
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000383580
  ensembl transcript: ENST00000400769
  gene symbol: D2HGDH
  hgvsc: ENST00000400769.2:c.155A>G
  hgvsp: ENSP00000383580.2:p.Tyr52Cys
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000215692
  ensembl transcript: ENST00000400768
  gene symbol: AC114730.8
  hgvsc: ENST00000400768.2:n.120T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000400212
  ensembl transcript: ENST00000436747
  gene symbol: D2HGDH
  hgvsc: ENST00000436747.1:c.155A>G
  hgvsp: ENSP00000400212.1:p.Tyr52Cys
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180902
  ensembl transcript: ENST00000463932
  gene symbol: D2HGDH
  hgvsc: ENST00000463932.1:n.248A>G
  variant of: http://identifiers.org/hgnc/28358
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4540
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7215
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12550
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31731
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7002
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1419
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12134
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1606
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Tyr52Cys
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-242674796-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242674796
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242674796
    reference: chr 2
allele count: 1
allele frequency: 3.202869771315099e-5
allele num: 31222
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000384723
  ensembl transcript: ENST00000403782
  gene symbol: D2HGDH
  hgvsc: ENST00000403782.1:c.-111+686C>A
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000315351
  ensembl transcript: ENST00000321264
  gene symbol: D2HGDH
  hgvsc: ENST00000321264.4:c.157C>A
  hgvsp: ENSP00000315351.4:p.Pro53Thr
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000383580
  ensembl transcript: ENST00000400769
  gene symbol: D2HGDH
  hgvsc: ENST00000400769.2:c.157C>A
  hgvsp: ENSP00000383580.2:p.Pro53Thr
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000442796
  ensembl transcript: ENST00000537090
  gene symbol: D2HGDH
  hgvsc: ENST00000537090.1:c.157C>A
  hgvsp: ENSP00000442796.1:p.Pro53Thr
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000215692
  ensembl transcript: ENST00000400768
  gene symbol: AC114730.8
  hgvsc: ENST00000400768.2:n.118G>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000339536
  ensembl transcript: ENST00000342518
  gene symbol: D2HGDH
  hgvsc: ENST00000342518.6:c.157C>A
  hgvsp: ENSP00000339536.6:p.Pro53Thr
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000400212
  ensembl transcript: ENST00000436747
  gene symbol: D2HGDH
  hgvsc: ENST00000436747.1:c.157C>A
  hgvsp: ENSP00000400212.1:p.Pro53Thr
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180902
  ensembl transcript: ENST00000463932
  gene symbol: D2HGDH
  hgvsc: ENST00000463932.1:n.250C>A
  variant of: http://identifiers.org/hgnc/28358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31829
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4649
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7750
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11793
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1425
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1121
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 8.75e1
  variant carriers: 1
hgvs: p.Pro53Thr
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/2-242674797-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242674797
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242674797
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 32010
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000400212
  ensembl transcript: ENST00000436747
  gene symbol: D2HGDH
  hgvsc: ENST00000436747.1:c.158C>A
  hgvsp: ENSP00000400212.1:p.Pro53His
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000384723
  ensembl transcript: ENST00000403782
  gene symbol: D2HGDH
  hgvsc: ENST00000403782.1:c.-111+687C>A
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180902
  ensembl transcript: ENST00000463932
  gene symbol: D2HGDH
  hgvsc: ENST00000463932.1:n.251C>A
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000442796
  ensembl transcript: ENST00000537090
  gene symbol: D2HGDH
  hgvsc: ENST00000537090.1:c.158C>A
  hgvsp: ENSP00000442796.1:p.Pro53His
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000383580
  ensembl transcript: ENST00000400769
  gene symbol: D2HGDH
  hgvsc: ENST00000400769.2:c.158C>A
  hgvsp: ENSP00000383580.2:p.Pro53His
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000315351
  ensembl transcript: ENST00000321264
  gene symbol: D2HGDH
  hgvsc: ENST00000321264.4:c.158C>A
  hgvsp: ENSP00000315351.4:p.Pro53His
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000339536
  ensembl transcript: ENST00000342518
  gene symbol: D2HGDH
  hgvsc: ENST00000342518.6:c.158C>A
  hgvsp: ENSP00000339536.6:p.Pro53His
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000215692
  ensembl transcript: ENST00000400768
  gene symbol: AC114730.8
  hgvsc: ENST00000400768.2:n.117G>T
canonical: true
consequence: missense
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4662
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11472
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7977
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31858
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1619
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11126
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1727
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 9.75e1
  variant carriers: 0
hgvs: p.Pro53His
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-242674797-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242674797
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242674797
    reference: chr 2
allele count: 1
allele frequency: 3.124023742580444e-5
allele num: 32010
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000384723
  ensembl transcript: ENST00000403782
  gene symbol: D2HGDH
  hgvsc: ENST00000403782.1:c.-111+687C>T
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000315351
  ensembl transcript: ENST00000321264
  gene symbol: D2HGDH
  hgvsc: ENST00000321264.4:c.158C>T
  hgvsp: ENSP00000315351.4:p.Pro53Leu
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000339536
  ensembl transcript: ENST00000342518
  gene symbol: D2HGDH
  hgvsc: ENST00000342518.6:c.158C>T
  hgvsp: ENSP00000339536.6:p.Pro53Leu
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000383580
  ensembl transcript: ENST00000400769
  gene symbol: D2HGDH
  hgvsc: ENST00000400769.2:c.158C>T
  hgvsp: ENSP00000383580.2:p.Pro53Leu
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180902
  ensembl transcript: ENST00000463932
  gene symbol: D2HGDH
  hgvsc: ENST00000463932.1:n.251C>T
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000442796
  ensembl transcript: ENST00000537090
  gene symbol: D2HGDH
  hgvsc: ENST00000537090.1:c.158C>T
  hgvsp: ENSP00000442796.1:p.Pro53Leu
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000215692
  ensembl transcript: ENST00000400768
  gene symbol: AC114730.8
  hgvsc: ENST00000400768.2:n.117G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000400212
  ensembl transcript: ENST00000436747
  gene symbol: D2HGDH
  hgvsc: ENST00000436747.1:c.158C>T
  hgvsp: ENSP00000400212.1:p.Pro53Leu
  variant of: http://identifiers.org/hgnc/28358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4662
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7977
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11472
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31858
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1559
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 847
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Pro53Leu
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-242674801-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242674801
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242674801
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 35270
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000315351
  ensembl transcript: ENST00000321264
  gene symbol: D2HGDH
  hgvsc: ENST00000321264.4:c.162G>C
  hgvsp: ENST00000321264.4:c.162G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000384723
  ensembl transcript: ENST00000403782
  gene symbol: D2HGDH
  hgvsc: ENST00000403782.1:c.-111+691G>C
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000383580
  ensembl transcript: ENST00000400769
  gene symbol: D2HGDH
  hgvsc: ENST00000400769.2:c.162G>C
  hgvsp: ENST00000400769.2:c.162G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000400212
  ensembl transcript: ENST00000436747
  gene symbol: D2HGDH
  hgvsc: ENST00000436747.1:c.162G>C
  hgvsp: ENST00000436747.1:c.162G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000442796
  ensembl transcript: ENST00000537090
  gene symbol: D2HGDH
  hgvsc: ENST00000537090.1:c.162G>C
  hgvsp: ENST00000537090.1:c.162G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000215692
  ensembl transcript: ENST00000400768
  gene symbol: AC114730.8
  hgvsc: ENST00000400768.2:n.113C>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000339536
  ensembl transcript: ENST00000342518
  gene symbol: D2HGDH
  hgvsc: ENST00000342518.6:c.162G>C
  hgvsp: ENST00000342518.6:c.162G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180902
  ensembl transcript: ENST00000463932
  gene symbol: D2HGDH
  hgvsc: ENST00000463932.1:n.255G>C
  variant of: http://identifiers.org/hgnc/28358
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10148
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9076
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31665
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4893
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1633
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8471
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1832
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1665
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val54Val
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/2-242674802-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242674802
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242674803
    reference: chr 2
allele count: 1
allele frequency: 2.786602017499861e-5
allele num: 35886
alternate allele: CA
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000215692
  ensembl transcript: ENST00000400768
  gene symbol: AC114730.8
  hgvsc: ENST00000400768.2:n.111_112insT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000400212
  ensembl transcript: ENST00000436747
  gene symbol: D2HGDH
  hgvsc: ENST00000436747.1:c.163_164insA
  hgvsp: ENSP00000400212.1:p.Arg55GlnfsTer10
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000339536
  ensembl transcript: ENST00000342518
  gene symbol: D2HGDH
  hgvsc: ENST00000342518.6:c.163_164insA
  hgvsp: ENSP00000339536.6:p.Arg55GlnfsTer10
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000383580
  ensembl transcript: ENST00000400769
  gene symbol: D2HGDH
  hgvsc: ENST00000400769.2:c.163_164insA
  hgvsp: ENSP00000383580.2:p.Arg55GlnfsTer10
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000315351
  ensembl transcript: ENST00000321264
  gene symbol: D2HGDH
  hgvsc: ENST00000321264.4:c.163_164insA
  hgvsp: ENSP00000315351.4:p.Arg55GlnfsTer10
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180902
  ensembl transcript: ENST00000463932
  gene symbol: D2HGDH
  hgvsc: ENST00000463932.1:n.256_257insA
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000384723
  ensembl transcript: ENST00000403782
  gene symbol: D2HGDH
  hgvsc: ENST00000403782.1:c.-111+692_-111+693insA
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000442796
  ensembl transcript: ENST00000537090
  gene symbol: D2HGDH
  hgvsc: ENST00000537090.1:c.163_164insA
  hgvsp: ENSP00000442796.1:p.Arg55GlnfsTer10
  variant of: http://identifiers.org/hgnc/28358
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2032
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5031
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31504
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9272
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9812
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1850
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29545
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8391
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1674
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1099
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg55GlnfsTer10
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

2-242674803-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242674803
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242674803
    reference: chr 2
allele count: 21883
allele frequency: 3.916630870561283e-1
allele num: 55872
alternate allele: A
annotation: Annotation
  canonical: true
  clinical significance: likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000315351
  ensembl transcript: ENST00000321264
  gene symbol: D2HGDH
  hgvsc: ENST00000321264.4:c.164G>A
  hgvsp: ENSP00000315351.4:p.Arg55Gln
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000339536
  ensembl transcript: ENST00000342518
  gene symbol: D2HGDH
  hgvsc: ENST00000342518.6:c.164G>A
  hgvsp: ENSP00000339536.6:p.Arg55Gln
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000442796
  ensembl transcript: ENST00000537090
  gene symbol: D2HGDH
  hgvsc: ENST00000537090.1:c.164G>A
  hgvsp: ENSP00000442796.1:p.Arg55Gln
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000383580
  ensembl transcript: ENST00000400769
  gene symbol: D2HGDH
  hgvsc: ENST00000400769.2:c.164G>A
  hgvsp: ENSP00000383580.2:p.Arg55Gln
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000400212
  ensembl transcript: ENST00000436747
  gene symbol: D2HGDH
  hgvsc: ENST00000436747.1:c.164G>A
  hgvsp: ENSP00000400212.1:p.Arg55Gln
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000384723
  ensembl transcript: ENST00000403782
  gene symbol: D2HGDH
  hgvsc: ENST00000403782.1:c.-111+693G>A
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000215692
  ensembl transcript: ENST00000400768
  gene symbol: AC114730.8
  hgvsc: ENST00000400768.2:n.111C>T
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180902
  ensembl transcript: ENST00000463932
  gene symbol: D2HGDH
  hgvsc: ENST00000463932.1:n.257G>A
  variant of: http://identifiers.org/hgnc/28358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 4.25e1
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.75e1
  variant carriers: 174
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 177
genotype depth: GenotypeDepth
  all individuals: 6534
  bin: 2.5e0
  variant carriers: 633
genotype depth: GenotypeDepth
  all individuals: 7253
  bin: 2.25e1
  variant carriers: 2479
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 3.75e1
  variant carriers: 135
genotype depth: GenotypeDepth
  all individuals: 10409
  bin: 1.25e1
  variant carriers: 7369
genotype depth: GenotypeDepth
  all individuals: 5839
  bin: 1.75e1
  variant carriers: 4899
genotype depth: GenotypeDepth
  all individuals: 23216
  bin: 7.5e0
  variant carriers: 5852
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 125
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 128
genotype depth: GenotypeDepth
  all individuals: 2022
  bin: 2.75e1
  variant carriers: 968
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 3.25e1
  variant carriers: 320
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.25e1
  variant carriers: 172
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.25e1
  variant carriers: 84
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 162
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 9.75e1
  variant carriers: 1575
genotype quality: GenotypeQuality
  all individuals: 15880
  bin: 9.75e1
  variant carriers: 15836
genotype quality: GenotypeQuality
  all individuals: 1584
  bin: 1.75e1
  variant carriers: 717
genotype quality: GenotypeQuality
  all individuals: 1338
  bin: 2.75e1
  variant carriers: 434
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 4.25e1
  variant carriers: 412
genotype quality: GenotypeQuality
  all individuals: 1139
  bin: 3.75e1
  variant carriers: 601
hgvs: p.Arg55Gln
num of homozygotes: 3144
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

2-242674803-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242674803
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242674803
    reference: chr 2
allele count: 1
allele frequency: 1.789805269186713e-5
allele num: 55872
alternate allele: C
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000442796
  ensembl transcript: ENST00000537090
  gene symbol: D2HGDH
  hgvsc: ENST00000537090.1:c.164G>C
  hgvsp: ENSP00000442796.1:p.Arg55Pro
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000339536
  ensembl transcript: ENST00000342518
  gene symbol: D2HGDH
  hgvsc: ENST00000342518.6:c.164G>C
  hgvsp: ENSP00000339536.6:p.Arg55Pro
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000384723
  ensembl transcript: ENST00000403782
  gene symbol: D2HGDH
  hgvsc: ENST00000403782.1:c.-111+693G>C
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180902
  ensembl transcript: ENST00000463932
  gene symbol: D2HGDH
  hgvsc: ENST00000463932.1:n.257G>C
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  clinical significance: likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000315351
  ensembl transcript: ENST00000321264
  gene symbol: D2HGDH
  hgvsc: ENST00000321264.4:c.164G>C
  hgvsp: ENSP00000315351.4:p.Arg55Pro
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000400212
  ensembl transcript: ENST00000436747
  gene symbol: D2HGDH
  hgvsc: ENST00000436747.1:c.164G>C
  hgvsp: ENSP00000400212.1:p.Arg55Pro
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000215692
  ensembl transcript: ENST00000400768
  gene symbol: AC114730.8
  hgvsc: ENST00000400768.2:n.111C>G
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000383580
  ensembl transcript: ENST00000400769
  gene symbol: D2HGDH
  hgvsc: ENST00000400769.2:c.164G>C
  hgvsp: ENSP00000383580.2:p.Arg55Pro
  variant of: http://identifiers.org/hgnc/28358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5839
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7253
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6534
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10409
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2022
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3093
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1338
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 846
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg55Pro
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

2-242674803-G-GCGCTACCCCGTGCA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242674803
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242674817
    reference: chr 2
allele count: 1
allele frequency: 1.789805269186713e-5
allele num: 55872
alternate allele: GCGCTACCCCGTGCA
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: frameshift_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000339536
  ensembl transcript: ENST00000342518
  gene symbol: D2HGDH
  hgvsp: ENSP00000339536.6:p.Arg56AlafsTer54
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000383580
  ensembl transcript: ENST00000400769
  gene symbol: D2HGDH
  hgvsp: ENSP00000383580.2:p.Arg56AlafsTer54
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000384723
  ensembl transcript: ENST00000403782
  gene symbol: D2HGDH
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180902
  ensembl transcript: ENST00000463932
  gene symbol: D2HGDH
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000400212
  ensembl transcript: ENST00000436747
  gene symbol: D2HGDH
  hgvsp: ENSP00000400212.1:p.Arg56AlafsTer54
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: frameshift_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000442796
  ensembl transcript: ENST00000537090
  gene symbol: D2HGDH
  hgvsp: ENSP00000442796.1:p.Arg56AlafsTer54
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  clinical significance: likely_benign
  consequence: frameshift_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000315351
  ensembl transcript: ENST00000321264
  gene symbol: D2HGDH
  hgvsp: ENSP00000315351.4:p.Arg56AlafsTer54
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000215692
  ensembl transcript: ENST00000400768
  gene symbol: AC114730.8
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7253
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5839
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6534
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2022
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10409
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1338
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1139
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1584
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg56AlafsTer54
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD

2-242674804-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242674804
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242674804
    reference: chr 2
allele count: 1
allele frequency: 1.712270127735352e-5
allele num: 58402
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000315351
  ensembl transcript: ENST00000321264
  gene symbol: D2HGDH
  hgvsc: ENST00000321264.4:c.165G>A
  hgvsp: ENST00000321264.4:c.165G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180902
  ensembl transcript: ENST00000463932
  gene symbol: D2HGDH
  hgvsc: ENST00000463932.1:n.258G>A
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000215692
  ensembl transcript: ENST00000400768
  gene symbol: AC114730.8
  hgvsc: ENST00000400768.2:n.110C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000384723
  ensembl transcript: ENST00000403782
  gene symbol: D2HGDH
  hgvsc: ENST00000403782.1:c.-111+694G>A
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000383580
  ensembl transcript: ENST00000400769
  gene symbol: D2HGDH
  hgvsc: ENST00000400769.2:c.165G>A
  hgvsp: ENST00000400769.2:c.165G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000442796
  ensembl transcript: ENST00000537090
  gene symbol: D2HGDH
  hgvsc: ENST00000537090.1:c.165G>A
  hgvsp: ENST00000537090.1:c.165G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000339536
  ensembl transcript: ENST00000342518
  gene symbol: D2HGDH
  hgvsc: ENST00000342518.6:c.165G>A
  hgvsp: ENST00000342518.6:c.165G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000400212
  ensembl transcript: ENST00000436747
  gene symbol: D2HGDH
  hgvsc: ENST00000436747.1:c.165G>A
  hgvsp: ENST00000436747.1:c.165G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28358
canonical: true
consequence: synonymous
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7543
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5786
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2201
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7242
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23183
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2933
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3084
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1443
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3214
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg55Arg
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP

2-242674804-GCGCTTGCCGTTCTCCA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242674804
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242674788
    reference: chr 2
allele count: 1
allele frequency: 1.712270127735352e-5
allele num: 58402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000384723
  ensembl transcript: ENST00000403782
  gene symbol: D2HGDH
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000215692
  ensembl transcript: ENST00000400768
  gene symbol: AC114730.8
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000400212
  ensembl transcript: ENST00000436747
  gene symbol: D2HGDH
  hgvsp: ENSP00000400212.1:p.Leu57CysfsTer43
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180902
  ensembl transcript: ENST00000463932
  gene symbol: D2HGDH
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000315351
  ensembl transcript: ENST00000321264
  gene symbol: D2HGDH
  hgvsp: ENSP00000315351.4:p.Leu57CysfsTer43
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000442796
  ensembl transcript: ENST00000537090
  gene symbol: D2HGDH
  hgvsp: ENSP00000442796.1:p.Leu57CysfsTer43
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000339536
  ensembl transcript: ENST00000342518
  gene symbol: D2HGDH
  hgvsp: ENSP00000339536.6:p.Leu57CysfsTer43
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000383580
  ensembl transcript: ENST00000400769
  gene symbol: D2HGDH
  hgvsp: ENSP00000383580.2:p.Leu57CysfsTer43
  variant of: http://identifiers.org/hgnc/28358
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7242
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23183
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2201
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7543
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5786
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3214
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20064
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6502
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4193
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1443
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu57CysfsTer43
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: GCGCTTGCCGTTCTCCA
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP

2-242674807-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242674807
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242674807
    reference: chr 2
allele count: 35
allele frequency: 5.818786367414796e-4
allele num: 60150
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000384723
  ensembl transcript: ENST00000403782
  gene symbol: D2HGDH
  hgvsc: ENST00000403782.1:c.-111+697C>T
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000383580
  ensembl transcript: ENST00000400769
  gene symbol: D2HGDH
  hgvsc: ENST00000400769.2:c.168C>T
  hgvsp: ENST00000400769.2:c.168C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000400212
  ensembl transcript: ENST00000436747
  gene symbol: D2HGDH
  hgvsc: ENST00000436747.1:c.168C>T
  hgvsp: ENST00000436747.1:c.168C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000315351
  ensembl transcript: ENST00000321264
  gene symbol: D2HGDH
  hgvsc: ENST00000321264.4:c.168C>T
  hgvsp: ENST00000321264.4:c.168C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000215692
  ensembl transcript: ENST00000400768
  gene symbol: AC114730.8
  hgvsc: ENST00000400768.2:n.107G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000339536
  ensembl transcript: ENST00000342518
  gene symbol: D2HGDH
  hgvsc: ENST00000342518.6:c.168C>T
  hgvsp: ENST00000342518.6:c.168C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000442796
  ensembl transcript: ENST00000537090
  gene symbol: D2HGDH
  hgvsc: ENST00000537090.1:c.168C>T
  hgvsp: ENST00000537090.1:c.168C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180902
  ensembl transcript: ENST00000463932
  gene symbol: D2HGDH
  hgvsc: ENST00000463932.1:n.261C>T
  variant of: http://identifiers.org/hgnc/28358
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2331
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5270
  bin: 1.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6540
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23121
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8798
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10189
  bin: 1.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2327
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1222
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1373
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3203
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg56Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

2-242674810-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242674810
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242674810
    reference: chr 2
allele count: 1
allele frequency: 1.616710317845249e-5
allele num: 61854
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000384723
  ensembl transcript: ENST00000403782
  gene symbol: D2HGDH
  hgvsc: ENST00000403782.1:c.-111+700G>T
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000215692
  ensembl transcript: ENST00000400768
  gene symbol: AC114730.8
  hgvsc: ENST00000400768.2:n.104C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180902
  ensembl transcript: ENST00000463932
  gene symbol: D2HGDH
  hgvsc: ENST00000463932.1:n.264G>T
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000442796
  ensembl transcript: ENST00000537090
  gene symbol: D2HGDH
  hgvsc: ENST00000537090.1:c.171G>T
  hgvsp: ENSP00000442796.1:p.Leu57Phe
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000339536
  ensembl transcript: ENST00000342518
  gene symbol: D2HGDH
  hgvsc: ENST00000342518.6:c.171G>T
  hgvsp: ENSP00000339536.6:p.Leu57Phe
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000383580
  ensembl transcript: ENST00000400769
  gene symbol: D2HGDH
  hgvsc: ENST00000400769.2:c.171G>T
  hgvsp: ENSP00000383580.2:p.Leu57Phe
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000315351
  ensembl transcript: ENST00000321264
  gene symbol: D2HGDH
  hgvsc: ENST00000321264.4:c.171G>T
  hgvsp: ENSP00000315351.4:p.Leu57Phe
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000400212
  ensembl transcript: ENST00000436747
  gene symbol: D2HGDH
  hgvsc: ENST00000436747.1:c.171G>T
  hgvsp: ENSP00000400212.1:p.Leu57Phe
  variant of: http://identifiers.org/hgnc/28358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4451
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10069
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5913
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22943
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10486
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1645
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2885
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1235
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu57Phe
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum

2-242674812-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242674812
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242674812
    reference: chr 2
allele count: 2
allele frequency: 3.154773171808947e-5
allele num: 63396
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000315351
  ensembl transcript: ENST00000321264
  gene symbol: D2HGDH
  hgvsc: ENST00000321264.4:c.173C>G
  hgvsp: ENSP00000315351.4:p.Pro58Arg
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000400212
  ensembl transcript: ENST00000436747
  gene symbol: D2HGDH
  hgvsc: ENST00000436747.1:c.173C>G
  hgvsp: ENSP00000400212.1:p.Pro58Arg
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000442796
  ensembl transcript: ENST00000537090
  gene symbol: D2HGDH
  hgvsc: ENST00000537090.1:c.173C>G
  hgvsp: ENSP00000442796.1:p.Pro58Arg
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000339536
  ensembl transcript: ENST00000342518
  gene symbol: D2HGDH
  hgvsc: ENST00000342518.6:c.173C>G
  hgvsp: ENSP00000339536.6:p.Pro58Arg
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000384723
  ensembl transcript: ENST00000403782
  gene symbol: D2HGDH
  hgvsc: ENST00000403782.1:c.-111+702C>G
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000383580
  ensembl transcript: ENST00000400769
  gene symbol: D2HGDH
  hgvsc: ENST00000400769.2:c.173C>G
  hgvsp: ENSP00000383580.2:p.Pro58Arg
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180902
  ensembl transcript: ENST00000463932
  gene symbol: D2HGDH
  hgvsc: ENST00000463932.1:n.266C>G
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000215692
  ensembl transcript: ENST00000400768
  gene symbol: AC114730.8
  hgvsc: ENST00000400768.2:n.102G>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10030
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5465
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22625
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4126
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11369
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10264
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2893
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1604
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1629
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21193
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro58Arg
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/2-242674819-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242674819
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242674819
    reference: chr 2
allele count: 1
allele frequency: 1.467696010802243e-5
allele num: 68134
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180902
  ensembl transcript: ENST00000463932
  gene symbol: D2HGDH
  hgvsc: ENST00000463932.1:n.273C>A
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000442796
  ensembl transcript: ENST00000537090
  gene symbol: D2HGDH
  hgvsc: ENST00000537090.1:c.180C>A
  hgvsp: ENST00000537090.1:c.180C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000315351
  ensembl transcript: ENST00000321264
  gene symbol: D2HGDH
  hgvsc: ENST00000321264.4:c.180C>A
  hgvsp: ENST00000321264.4:c.180C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000400212
  ensembl transcript: ENST00000436747
  gene symbol: D2HGDH
  hgvsc: ENST00000436747.1:c.180C>A
  hgvsp: ENST00000436747.1:c.180C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000215692
  ensembl transcript: ENST00000400768
  gene symbol: AC114730.8
  hgvsc: ENST00000400768.2:n.95G>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000339536
  ensembl transcript: ENST00000342518
  gene symbol: D2HGDH
  hgvsc: ENST00000342518.6:c.180C>A
  hgvsp: ENST00000342518.6:c.180C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000384723
  ensembl transcript: ENST00000403782
  gene symbol: D2HGDH
  hgvsc: ENST00000403782.1:c.-111+709C>A
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000383580
  ensembl transcript: ENST00000400769
  gene symbol: D2HGDH
  hgvsc: ENST00000400769.2:c.180C>A
  hgvsp: ENST00000400769.2:c.180C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28358
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21735
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3153
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9096
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15474
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2610
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21162
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2746
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2532
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser60Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD

2-242674819-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242674819
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242674819
    reference: chr 2
allele count: 1
allele frequency: 1.467696010802243e-5
allele num: 68134
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000315351
  ensembl transcript: ENST00000321264
  gene symbol: D2HGDH
  hgvsc: ENST00000321264.4:c.180C>G
  hgvsp: ENST00000321264.4:c.180C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000384723
  ensembl transcript: ENST00000403782
  gene symbol: D2HGDH
  hgvsc: ENST00000403782.1:c.-111+709C>G
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000215692
  ensembl transcript: ENST00000400768
  gene symbol: AC114730.8
  hgvsc: ENST00000400768.2:n.95G>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000400212
  ensembl transcript: ENST00000436747
  gene symbol: D2HGDH
  hgvsc: ENST00000436747.1:c.180C>G
  hgvsp: ENST00000436747.1:c.180C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000339536
  ensembl transcript: ENST00000342518
  gene symbol: D2HGDH
  hgvsc: ENST00000342518.6:c.180C>G
  hgvsp: ENST00000342518.6:c.180C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000442796
  ensembl transcript: ENST00000537090
  gene symbol: D2HGDH
  hgvsc: ENST00000537090.1:c.180C>G
  hgvsp: ENST00000537090.1:c.180C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000383580
  ensembl transcript: ENST00000400769
  gene symbol: D2HGDH
  hgvsc: ENST00000400769.2:c.180C>G
  hgvsp: ENST00000400769.2:c.180C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180902
  ensembl transcript: ENST00000463932
  gene symbol: D2HGDH
  hgvsc: ENST00000463932.1:n.273C>G
  variant of: http://identifiers.org/hgnc/28358
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21735
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15474
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3153
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2610
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9096
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2746
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3808
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser60Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

2-242674822-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242674822
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242674822
    reference: chr 2
allele count: 1
allele frequency: 1.428530613411045e-5
allele num: 70002
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000442796
  ensembl transcript: ENST00000537090
  gene symbol: D2HGDH
  hgvsc: ENST00000537090.1:c.183G>C
  hgvsp: ENST00000537090.1:c.183G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000383580
  ensembl transcript: ENST00000400769
  gene symbol: D2HGDH
  hgvsc: ENST00000400769.2:c.183G>C
  hgvsp: ENST00000400769.2:c.183G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000400212
  ensembl transcript: ENST00000436747
  gene symbol: D2HGDH
  hgvsc: ENST00000436747.1:c.183G>C
  hgvsp: ENST00000436747.1:c.183G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000215692
  ensembl transcript: ENST00000400768
  gene symbol: AC114730.8
  hgvsc: ENST00000400768.2:n.92C>G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000315351
  ensembl transcript: ENST00000321264
  gene symbol: D2HGDH
  hgvsc: ENST00000321264.4:c.183G>C
  hgvsp: ENST00000321264.4:c.183G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180902
  ensembl transcript: ENST00000463932
  gene symbol: D2HGDH
  hgvsc: ENST00000463932.1:n.276G>C
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000339536
  ensembl transcript: ENST00000342518
  gene symbol: D2HGDH
  hgvsc: ENST00000342518.6:c.183G>C
  hgvsp: ENST00000342518.6:c.183G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000384723
  ensembl transcript: ENST00000403782
  gene symbol: D2HGDH
  hgvsc: ENST00000403782.1:c.-111+712G>C
  variant of: http://identifiers.org/hgnc/28358
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16701
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21193
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2414
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8679
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3466
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3669
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3605
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2690
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3505
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr61Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP

2-242674827-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242674827
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242674827
    reference: chr 2
allele count: 3
allele frequency: 4.105427374989737e-5
allele num: 73074
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000383580
  ensembl transcript: ENST00000400769
  gene symbol: D2HGDH
  hgvsc: ENST00000400769.2:c.188C>G
  hgvsp: ENSP00000383580.2:p.Ser63Cys
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000400212
  ensembl transcript: ENST00000436747
  gene symbol: D2HGDH
  hgvsc: ENST00000436747.1:c.188C>G
  hgvsp: ENSP00000400212.1:p.Ser63Cys
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000384723
  ensembl transcript: ENST00000403782
  gene symbol: D2HGDH
  hgvsc: ENST00000403782.1:c.-111+717C>G
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000315351
  ensembl transcript: ENST00000321264
  gene symbol: D2HGDH
  hgvsc: ENST00000321264.4:c.188C>G
  hgvsp: ENSP00000315351.4:p.Ser63Cys
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000339536
  ensembl transcript: ENST00000342518
  gene symbol: D2HGDH
  hgvsc: ENST00000342518.6:c.188C>G
  hgvsp: ENSP00000339536.6:p.Ser63Cys
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000442796
  ensembl transcript: ENST00000537090
  gene symbol: D2HGDH
  hgvsc: ENST00000537090.1:c.188C>G
  hgvsp: ENSP00000442796.1:p.Ser63Cys
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000215692
  ensembl transcript: ENST00000400768
  gene symbol: AC114730.8
  hgvsc: ENST00000400768.2:n.87G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180902
  ensembl transcript: ENST00000463932
  gene symbol: D2HGDH
  hgvsc: ENST00000463932.1:n.281C>G
  variant of: http://identifiers.org/hgnc/28358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3829
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20455
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3129
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8023
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18439
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2979
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 914
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2619
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 931
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16935
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser63Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ

2-242674830-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242674830
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242674830
    reference: chr 2
allele count: 1
allele frequency: 1.333760136577038e-5
allele num: 74976
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000315351
  ensembl transcript: ENST00000321264
  gene symbol: D2HGDH
  hgvsc: ENST00000321264.4:c.191A>G
  hgvsp: ENSP00000315351.4:p.Lys64Arg
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000400212
  ensembl transcript: ENST00000436747
  gene symbol: D2HGDH
  hgvsc: ENST00000436747.1:c.191A>G
  hgvsp: ENSP00000400212.1:p.Lys64Arg
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000442796
  ensembl transcript: ENST00000537090
  gene symbol: D2HGDH
  hgvsc: ENST00000537090.1:c.191A>G
  hgvsp: ENSP00000442796.1:p.Lys64Arg
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000215692
  ensembl transcript: ENST00000400768
  gene symbol: AC114730.8
  hgvsc: ENST00000400768.2:n.84T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000383580
  ensembl transcript: ENST00000400769
  gene symbol: D2HGDH
  hgvsc: ENST00000400769.2:c.191A>G
  hgvsp: ENSP00000383580.2:p.Lys64Arg
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000384723
  ensembl transcript: ENST00000403782
  gene symbol: D2HGDH
  hgvsc: ENST00000403782.1:c.-111+720A>G
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180902
  ensembl transcript: ENST00000463932
  gene symbol: D2HGDH
  hgvsc: ENST00000463932.1:n.284A>G
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000339536
  ensembl transcript: ENST00000342518
  gene symbol: D2HGDH
  hgvsc: ENST00000342518.6:c.191A>G
  hgvsp: ENSP00000339536.6:p.Lys64Arg
  variant of: http://identifiers.org/hgnc/28358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19866
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4022
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2780
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7482
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19958
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 958
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19770
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2671
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3076
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Lys64Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

2-242674832-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242674832
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242674832
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 75998
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000339536
  ensembl transcript: ENST00000342518
  gene symbol: D2HGDH
  hgvsc: ENST00000342518.6:c.193C>G
  hgvsp: ENSP00000339536.6:p.Gln65Glu
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000384723
  ensembl transcript: ENST00000403782
  gene symbol: D2HGDH
  hgvsc: ENST00000403782.1:c.-111+722C>G
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000315351
  ensembl transcript: ENST00000321264
  gene symbol: D2HGDH
  hgvsc: ENST00000321264.4:c.193C>G
  hgvsp: ENSP00000315351.4:p.Gln65Glu
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000442796
  ensembl transcript: ENST00000537090
  gene symbol: D2HGDH
  hgvsc: ENST00000537090.1:c.193C>G
  hgvsp: ENSP00000442796.1:p.Gln65Glu
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000383580
  ensembl transcript: ENST00000400769
  gene symbol: D2HGDH
  hgvsc: ENST00000400769.2:c.193C>G
  hgvsp: ENSP00000383580.2:p.Gln65Glu
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000215692
  ensembl transcript: ENST00000400768
  gene symbol: AC114730.8
  hgvsc: ENST00000400768.2:n.82G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180902
  ensembl transcript: ENST00000463932
  gene symbol: D2HGDH
  hgvsc: ENST00000463932.1:n.286C>G
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000400212
  ensembl transcript: ENST00000436747
  gene symbol: D2HGDH
  hgvsc: ENST00000436747.1:c.193C>G
  hgvsp: ENSP00000400212.1:p.Gln65Glu
  variant of: http://identifiers.org/hgnc/28358
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19404
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20442
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4275
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7239
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 998
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2527
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19121
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gln65Glu
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff

2-242674837-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242674837
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242674837
    reference: chr 2
allele count: 9
allele frequency: 1.136220174220427e-4
allele num: 79210
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000215692
  ensembl transcript: ENST00000400768
  gene symbol: AC114730.8
  hgvsc: ENST00000400768.2:n.77G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000339536
  ensembl transcript: ENST00000342518
  gene symbol: D2HGDH
  hgvsc: ENST00000342518.6:c.198C>T
  hgvsp: ENST00000342518.6:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000383580
  ensembl transcript: ENST00000400769
  gene symbol: D2HGDH
  hgvsc: ENST00000400769.2:c.198C>T
  hgvsp: ENST00000400769.2:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000442796
  ensembl transcript: ENST00000537090
  gene symbol: D2HGDH
  hgvsc: ENST00000537090.1:c.198C>T
  hgvsp: ENST00000537090.1:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000400212
  ensembl transcript: ENST00000436747
  gene symbol: D2HGDH
  hgvsc: ENST00000436747.1:c.198C>T
  hgvsp: ENST00000436747.1:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000315351
  ensembl transcript: ENST00000321264
  gene symbol: D2HGDH
  hgvsc: ENST00000321264.4:c.198C>T
  hgvsp: ENST00000321264.4:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180902
  ensembl transcript: ENST00000463932
  gene symbol: D2HGDH
  hgvsc: ENST00000463932.1:n.291C>T
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000384723
  ensembl transcript: ENST00000403782
  gene symbol: D2HGDH
  hgvsc: ENST00000403782.1:c.-111+727C>T
  variant of: http://identifiers.org/hgnc/28358
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4763
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 18280
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22124
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6540
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2256
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20677
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2208
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2834
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 1499
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2660
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp66Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum

2-242674838-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242674838
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242674838
    reference: chr 2
allele count: 4
allele frequency: 5.003752814610959e-5
allele num: 79940
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000400212
  ensembl transcript: ENST00000436747
  gene symbol: D2HGDH
  hgvsc: ENST00000436747.1:c.199C>G
  hgvsp: ENSP00000400212.1:p.Leu67Val
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000339536
  ensembl transcript: ENST00000342518
  gene symbol: D2HGDH
  hgvsc: ENST00000342518.6:c.199C>G
  hgvsp: ENSP00000339536.6:p.Leu67Val
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180902
  ensembl transcript: ENST00000463932
  gene symbol: D2HGDH
  hgvsc: ENST00000463932.1:n.292C>G
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000315351
  ensembl transcript: ENST00000321264
  gene symbol: D2HGDH
  hgvsc: ENST00000321264.4:c.199C>G
  hgvsp: ENSP00000315351.4:p.Leu67Val
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000384723
  ensembl transcript: ENST00000403782
  gene symbol: D2HGDH
  hgvsc: ENST00000403782.1:c.-111+728C>G
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000442796
  ensembl transcript: ENST00000537090
  gene symbol: D2HGDH
  hgvsc: ENST00000537090.1:c.199C>G
  hgvsp: ENSP00000442796.1:p.Leu67Val
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000383580
  ensembl transcript: ENST00000400769
  gene symbol: D2HGDH
  hgvsc: ENST00000400769.2:c.199C>G
  hgvsp: ENSP00000383580.2:p.Leu67Val
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000215692
  ensembl transcript: ENST00000400768
  gene symbol: AC114730.8
  hgvsc: ENST00000400768.2:n.76G>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18020
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2173
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22546
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6374
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4880
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18167
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21503
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2161
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu67Val
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-242674843-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242674843
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242674843
    reference: chr 2
allele count: 1
allele frequency: 1.200653155316492e-5
allele num: 83288
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000383580
  ensembl transcript: ENST00000400769
  gene symbol: D2HGDH
  hgvsc: ENST00000400769.2:c.204C>T
  hgvsp: ENST00000400769.2:c.204C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000215692
  ensembl transcript: ENST00000400768
  gene symbol: AC114730.8
  hgvsc: ENST00000400768.2:n.71G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000384723
  ensembl transcript: ENST00000403782
  gene symbol: D2HGDH
  hgvsc: ENST00000403782.1:c.-111+733C>T
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000315351
  ensembl transcript: ENST00000321264
  gene symbol: D2HGDH
  hgvsc: ENST00000321264.4:c.204C>T
  hgvsp: ENST00000321264.4:c.204C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000442796
  ensembl transcript: ENST00000537090
  gene symbol: D2HGDH
  hgvsc: ENST00000537090.1:c.204C>T
  hgvsp: ENST00000537090.1:c.204C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000400212
  ensembl transcript: ENST00000436747
  gene symbol: D2HGDH
  hgvsc: ENST00000436747.1:c.204C>T
  hgvsp: ENST00000436747.1:c.204C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180902
  ensembl transcript: ENST00000463932
  gene symbol: D2HGDH
  hgvsc: ENST00000463932.1:n.297C>T
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000339536
  ensembl transcript: ENST00000342518
  gene symbol: D2HGDH
  hgvsc: ENST00000342518.6:c.204C>T
  hgvsp: ENST00000342518.6:c.204C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28358
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1870
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16589
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5814
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1874
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5513
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23948
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3286
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 962
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1350
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala68Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD

2-242674844-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242674844
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242674844
    reference: chr 2
allele count: 1
allele frequency: 1.185255422543558e-5
allele num: 84370
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000442796
  ensembl transcript: ENST00000537090
  gene symbol: D2HGDH
  hgvsc: ENST00000537090.1:c.205G>T
  hgvsp: ENSP00000442796.1:p.Ala69Ser
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000315351
  ensembl transcript: ENST00000321264
  gene symbol: D2HGDH
  hgvsc: ENST00000321264.4:c.205G>T
  hgvsp: ENSP00000315351.4:p.Ala69Ser
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000384723
  ensembl transcript: ENST00000403782
  gene symbol: D2HGDH
  hgvsc: ENST00000403782.1:c.-111+734G>T
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180902
  ensembl transcript: ENST00000463932
  gene symbol: D2HGDH
  hgvsc: ENST00000463932.1:n.298G>T
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000400212
  ensembl transcript: ENST00000436747
  gene symbol: D2HGDH
  hgvsc: ENST00000436747.1:c.205G>T
  hgvsp: ENSP00000400212.1:p.Ala69Ser
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000339536
  ensembl transcript: ENST00000342518
  gene symbol: D2HGDH
  hgvsc: ENST00000342518.6:c.205G>T
  hgvsp: ENSP00000339536.6:p.Ala69Ser
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000215692
  ensembl transcript: ENST00000400768
  gene symbol: AC114730.8
  hgvsc: ENST00000400768.2:n.70C>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000383580
  ensembl transcript: ENST00000400769
  gene symbol: D2HGDH
  hgvsc: ENST00000400769.2:c.205G>T
  hgvsp: ENSP00000383580.2:p.Ala69Ser
  variant of: http://identifiers.org/hgnc/28358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5630
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16051
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5742
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1894
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23349
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1274
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala69Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

2-242674845-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242674845
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242674845
    reference: chr 2
allele count: 1
allele frequency: 1.166806683468683e-5
allele num: 85704
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180902
  ensembl transcript: ENST00000463932
  gene symbol: D2HGDH
  hgvsc: ENST00000463932.1:n.299C>T
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000339536
  ensembl transcript: ENST00000342518
  gene symbol: D2HGDH
  hgvsc: ENST00000342518.6:c.206C>T
  hgvsp: ENSP00000339536.6:p.Ala69Val
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000442796
  ensembl transcript: ENST00000537090
  gene symbol: D2HGDH
  hgvsc: ENST00000537090.1:c.206C>T
  hgvsp: ENSP00000442796.1:p.Ala69Val
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000384723
  ensembl transcript: ENST00000403782
  gene symbol: D2HGDH
  hgvsc: ENST00000403782.1:c.-111+735C>T
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000383580
  ensembl transcript: ENST00000400769
  gene symbol: D2HGDH
  hgvsc: ENST00000400769.2:c.206C>T
  hgvsp: ENSP00000383580.2:p.Ala69Val
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000315351
  ensembl transcript: ENST00000321264
  gene symbol: D2HGDH
  hgvsc: ENST00000321264.4:c.206C>T
  hgvsp: ENSP00000315351.4:p.Ala69Val
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000400212
  ensembl transcript: ENST00000436747
  gene symbol: D2HGDH
  hgvsc: ENST00000436747.1:c.206C>T
  hgvsp: ENSP00000400212.1:p.Ala69Val
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000215692
  ensembl transcript: ENST00000400768
  gene symbol: AC114730.8
  hgvsc: ENST00000400768.2:n.69G>A
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5419
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5893
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15654
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25008
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1699
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3477
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1314
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24489
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala69Val
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

2-242674847-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242674847
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242674847
    reference: chr 2
allele count: 1
allele frequency: 1.141396155777747e-5
allele num: 87612
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180902
  ensembl transcript: ENST00000463932
  gene symbol: D2HGDH
  hgvsc: ENST00000463932.1:n.301T>C
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000384723
  ensembl transcript: ENST00000403782
  gene symbol: D2HGDH
  hgvsc: ENST00000403782.1:c.-111+737T>C
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000400212
  ensembl transcript: ENST00000436747
  gene symbol: D2HGDH
  hgvsc: ENST00000436747.1:c.208T>C
  hgvsp: ENSP00000400212.1:p.Phe70Leu
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000315351
  ensembl transcript: ENST00000321264
  gene symbol: D2HGDH
  hgvsc: ENST00000321264.4:c.208T>C
  hgvsp: ENSP00000315351.4:p.Phe70Leu
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000215692
  ensembl transcript: ENST00000400768
  gene symbol: AC114730.8
  hgvsc: ENST00000400768.2:n.67A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000442796
  ensembl transcript: ENST00000537090
  gene symbol: D2HGDH
  hgvsc: ENST00000537090.1:c.208T>C
  hgvsp: ENSP00000442796.1:p.Phe70Leu
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000339536
  ensembl transcript: ENST00000342518
  gene symbol: D2HGDH
  hgvsc: ENST00000342518.6:c.208T>C
  hgvsp: ENSP00000339536.6:p.Phe70Leu
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000383580
  ensembl transcript: ENST00000400769
  gene symbol: D2HGDH
  hgvsc: ENST00000400769.2:c.208T>C
  hgvsp: ENSP00000383580.2:p.Phe70Leu
  variant of: http://identifiers.org/hgnc/28358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14720
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4984
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6220
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26053
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25644
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1275
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15076
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2836
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3592
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Phe70Leu
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP

2-242674852-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242674852
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242674852
    reference: chr 2
allele count: 1
allele frequency: 1.088542006836044e-5
allele num: 91866
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000315351
  ensembl transcript: ENST00000321264
  gene symbol: D2HGDH
  hgvsc: ENST00000321264.4:c.213G>A
  hgvsp: ENST00000321264.4:c.213G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180902
  ensembl transcript: ENST00000463932
  gene symbol: D2HGDH
  hgvsc: ENST00000463932.1:n.306G>A
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000384723
  ensembl transcript: ENST00000403782
  gene symbol: D2HGDH
  hgvsc: ENST00000403782.1:c.-111+742G>A
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000400212
  ensembl transcript: ENST00000436747
  gene symbol: D2HGDH
  hgvsc: ENST00000436747.1:c.213G>A
  hgvsp: ENST00000436747.1:c.213G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000339536
  ensembl transcript: ENST00000342518
  gene symbol: D2HGDH
  hgvsc: ENST00000342518.6:c.213G>A
  hgvsp: ENST00000342518.6:c.213G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000215692
  ensembl transcript: ENST00000400768
  gene symbol: AC114730.8
  hgvsc: ENST00000400768.2:n.62C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000383580
  ensembl transcript: ENST00000400769
  gene symbol: D2HGDH
  hgvsc: ENST00000400769.2:c.213G>A
  hgvsp: ENST00000400769.2:c.213G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000442796
  ensembl transcript: ENST00000537090
  gene symbol: D2HGDH
  hgvsc: ENST00000537090.1:c.213G>A
  hgvsp: ENST00000537090.1:c.213G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28358
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28443
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4190
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6708
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12895
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2315
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1431
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13304
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1405
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2843
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 894
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu71Glu
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

2-242674858-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242674858
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242674858
    reference: chr 2
allele count: 1
allele frequency: 1.038551013625789e-5
allele num: 96288
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000215692
  ensembl transcript: ENST00000400768
  gene symbol: AC114730.8
  hgvsc: ENST00000400768.2:n.56G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000442796
  ensembl transcript: ENST00000537090
  gene symbol: D2HGDH
  hgvsc: ENST00000537090.1:c.219C>G
  hgvsp: ENSP00000442796.1:p.Ile73Met
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000400212
  ensembl transcript: ENST00000436747
  gene symbol: D2HGDH
  hgvsc: ENST00000436747.1:c.219C>G
  hgvsp: ENSP00000400212.1:p.Ile73Met
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180902
  ensembl transcript: ENST00000463932
  gene symbol: D2HGDH
  hgvsc: ENST00000463932.1:n.312C>G
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000315351
  ensembl transcript: ENST00000321264
  gene symbol: D2HGDH
  hgvsc: ENST00000321264.4:c.219C>G
  hgvsp: ENSP00000315351.4:p.Ile73Met
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000384723
  ensembl transcript: ENST00000403782
  gene symbol: D2HGDH
  hgvsc: ENST00000403782.1:c.-111+748C>G
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000339536
  ensembl transcript: ENST00000342518
  gene symbol: D2HGDH
  hgvsc: ENST00000342518.6:c.219C>G
  hgvsp: ENSP00000339536.6:p.Ile73Met
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000383580
  ensembl transcript: ENST00000400769
  gene symbol: D2HGDH
  hgvsc: ENST00000400769.2:c.219C>G
  hgvsp: ENSP00000383580.2:p.Ile73Met
  variant of: http://identifiers.org/hgnc/28358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30432
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2553
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10818
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7467
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3483
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11211
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1502
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ile73Met
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD

2-242674862-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242674862
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242674862
    reference: chr 2
allele count: 1
allele frequency: 1.013643643440712e-5
allele num: 98654
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000442796
  ensembl transcript: ENST00000537090
  gene symbol: D2HGDH
  hgvsc: ENST00000537090.1:c.223C>T
  hgvsp: ENSP00000442796.1:p.Pro75Ser
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180902
  ensembl transcript: ENST00000463932
  gene symbol: D2HGDH
  hgvsc: ENST00000463932.1:n.316C>T
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000215692
  ensembl transcript: ENST00000400768
  gene symbol: AC114730.8
  hgvsc: ENST00000400768.2:n.52G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000315351
  ensembl transcript: ENST00000321264
  gene symbol: D2HGDH
  hgvsc: ENST00000321264.4:c.223C>T
  hgvsp: ENSP00000315351.4:p.Pro75Ser
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000383580
  ensembl transcript: ENST00000400769
  gene symbol: D2HGDH
  hgvsc: ENST00000400769.2:c.223C>T
  hgvsp: ENSP00000383580.2:p.Pro75Ser
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000339536
  ensembl transcript: ENST00000342518
  gene symbol: D2HGDH
  hgvsc: ENST00000342518.6:c.223C>T
  hgvsp: ENSP00000339536.6:p.Pro75Ser
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000400212
  ensembl transcript: ENST00000436747
  gene symbol: D2HGDH
  hgvsc: ENST00000436747.1:c.223C>T
  hgvsp: ENSP00000400212.1:p.Pro75Ser
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000384723
  ensembl transcript: ENST00000403782
  gene symbol: D2HGDH
  hgvsc: ENST00000403782.1:c.-111+752C>T
  variant of: http://identifiers.org/hgnc/28358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9771
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2688
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7994
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3212
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1456
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31732
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4234
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1056
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2862
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10187
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro75Ser
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

2-242674864-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242674864
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242674864
    reference: chr 2
allele count: 1
allele frequency: 1.003049269780132e-5
allele num: 99696
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000339536
  ensembl transcript: ENST00000342518
  gene symbol: D2HGDH
  hgvsc: ENST00000342518.6:c.225C>T
  hgvsp: ENST00000342518.6:c.225C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000315351
  ensembl transcript: ENST00000321264
  gene symbol: D2HGDH
  hgvsc: ENST00000321264.4:c.225C>T
  hgvsp: ENST00000321264.4:c.225C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000383580
  ensembl transcript: ENST00000400769
  gene symbol: D2HGDH
  hgvsc: ENST00000400769.2:c.225C>T
  hgvsp: ENST00000400769.2:c.225C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000442796
  ensembl transcript: ENST00000537090
  gene symbol: D2HGDH
  hgvsc: ENST00000537090.1:c.225C>T
  hgvsp: ENST00000537090.1:c.225C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000400212
  ensembl transcript: ENST00000436747
  gene symbol: D2HGDH
  hgvsc: ENST00000436747.1:c.225C>T
  hgvsp: ENST00000436747.1:c.225C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000215692
  ensembl transcript: ENST00000400768
  gene symbol: AC114730.8
  hgvsc: ENST00000400768.2:n.50G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000384723
  ensembl transcript: ENST00000403782
  gene symbol: D2HGDH
  hgvsc: ENST00000403782.1:c.-111+754C>T
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180902
  ensembl transcript: ENST00000463932
  gene symbol: D2HGDH
  hgvsc: ENST00000463932.1:n.318C>T
  variant of: http://identifiers.org/hgnc/28358
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31632
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3058
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9222
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8220
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9576
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1127
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro75Pro
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

2-242674867-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242674867
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242674867
    reference: chr 2
allele count: 5
allele frequency: 4.923973843850942e-5
allele num: 101544
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000442796
  ensembl transcript: ENST00000537090
  gene symbol: D2HGDH
  hgvsc: ENST00000537090.1:c.228C>T
  hgvsp: ENST00000537090.1:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000383580
  ensembl transcript: ENST00000400769
  gene symbol: D2HGDH
  hgvsc: ENST00000400769.2:c.228C>T
  hgvsp: ENST00000400769.2:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000384723
  ensembl transcript: ENST00000403782
  gene symbol: D2HGDH
  hgvsc: ENST00000403782.1:c.-111+757C>T
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180902
  ensembl transcript: ENST00000463932
  gene symbol: D2HGDH
  hgvsc: ENST00000463932.1:n.321C>T
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000315351
  ensembl transcript: ENST00000321264
  gene symbol: D2HGDH
  hgvsc: ENST00000321264.4:c.228C>T
  hgvsp: ENST00000321264.4:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000339536
  ensembl transcript: ENST00000342518
  gene symbol: D2HGDH
  hgvsc: ENST00000342518.6:c.228C>T
  hgvsp: ENST00000342518.6:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000215692
  ensembl transcript: ENST00000400768
  gene symbol: AC114730.8
  hgvsc: ENST00000400768.2:n.47G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000400212
  ensembl transcript: ENST00000436747
  gene symbol: D2HGDH
  hgvsc: ENST00000436747.1:c.228C>T
  hgvsp: ENST00000436747.1:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28358
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2805
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32394
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8372
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8568
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8815
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2870
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4446
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly76Gly
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff

2-242674870-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242674870
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242674870
    reference: chr 2
allele count: 1
allele frequency: 9.684292078249079e-6
allele num: 103260
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000442796
  ensembl transcript: ENST00000537090
  gene symbol: D2HGDH
  hgvsc: ENST00000537090.1:c.231G>T
  hgvsp: ENST00000537090.1:c.231G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000215692
  ensembl transcript: ENST00000400768
  gene symbol: AC114730.8
  hgvsc: ENST00000400768.2:n.44C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000384723
  ensembl transcript: ENST00000403782
  gene symbol: D2HGDH
  hgvsc: ENST00000403782.1:c.-111+760G>T
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000339536
  ensembl transcript: ENST00000342518
  gene symbol: D2HGDH
  hgvsc: ENST00000342518.6:c.231G>T
  hgvsp: ENST00000342518.6:c.231G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000315351
  ensembl transcript: ENST00000321264
  gene symbol: D2HGDH
  hgvsc: ENST00000321264.4:c.231G>T
  hgvsp: ENST00000321264.4:c.231G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000400212
  ensembl transcript: ENST00000436747
  gene symbol: D2HGDH
  hgvsc: ENST00000436747.1:c.231G>T
  hgvsp: ENST00000436747.1:c.231G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180902
  ensembl transcript: ENST00000463932
  gene symbol: D2HGDH
  hgvsc: ENST00000463932.1:n.324G>T
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000383580
  ensembl transcript: ENST00000400769
  gene symbol: D2HGDH
  hgvsc: ENST00000400769.2:c.231G>T
  hgvsp: ENST00000400769.2:c.231G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28358
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2585
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8839
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2896
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7635
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33150
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 992
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8140
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly77Gly
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff

2-242674871-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242674871
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242674871
    reference: chr 2
allele count: 1
allele frequency: 9.635025243766138e-6
allele num: 103788
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000442796
  ensembl transcript: ENST00000537090
  gene symbol: D2HGDH
  hgvsc: ENST00000537090.1:c.232G>A
  hgvsp: ENSP00000442796.1:p.Val78Ile
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000339536
  ensembl transcript: ENST00000342518
  gene symbol: D2HGDH
  hgvsc: ENST00000342518.6:c.232G>A
  hgvsp: ENSP00000339536.6:p.Val78Ile
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000315351
  ensembl transcript: ENST00000321264
  gene symbol: D2HGDH
  hgvsc: ENST00000321264.4:c.232G>A
  hgvsp: ENSP00000315351.4:p.Val78Ile
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000384723
  ensembl transcript: ENST00000403782
  gene symbol: D2HGDH
  hgvsc: ENST00000403782.1:c.-111+761G>A
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000383580
  ensembl transcript: ENST00000400769
  gene symbol: D2HGDH
  hgvsc: ENST00000400769.2:c.232G>A
  hgvsp: ENSP00000383580.2:p.Val78Ile
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000215692
  ensembl transcript: ENST00000400768
  gene symbol: AC114730.8
  hgvsc: ENST00000400768.2:n.43C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180902
  ensembl transcript: ENST00000463932
  gene symbol: D2HGDH
  hgvsc: ENST00000463932.1:n.325G>A
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000400212
  ensembl transcript: ENST00000436747
  gene symbol: D2HGDH
  hgvsc: ENST00000436747.1:c.232G>A
  hgvsp: ENSP00000400212.1:p.Val78Ile
  variant of: http://identifiers.org/hgnc/28358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7402
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2897
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8909
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2530
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33456
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4630
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7956
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val78Ile
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-242674878-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242674878
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242674878
    reference: chr 2
allele count: 1
allele frequency: 9.400263207369806e-6
allele num: 106380
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000215692
  ensembl transcript: ENST00000400768
  gene symbol: AC114730.8
  hgvsc: ENST00000400768.2:n.36G>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000400212
  ensembl transcript: ENST00000436747
  gene symbol: D2HGDH
  hgvsc: ENST00000436747.1:c.239C>A
  hgvsp: ENSP00000400212.1:p.Thr80Lys
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180902
  ensembl transcript: ENST00000463932
  gene symbol: D2HGDH
  hgvsc: ENST00000463932.1:n.332C>A
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000339536
  ensembl transcript: ENST00000342518
  gene symbol: D2HGDH
  hgvsc: ENST00000342518.6:c.239C>A
  hgvsp: ENSP00000339536.6:p.Thr80Lys
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000383580
  ensembl transcript: ENST00000400769
  gene symbol: D2HGDH
  hgvsc: ENST00000400769.2:c.239C>A
  hgvsp: ENSP00000383580.2:p.Thr80Lys
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000384723
  ensembl transcript: ENST00000403782
  gene symbol: D2HGDH
  hgvsc: ENST00000403782.1:c.-111+768C>A
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000442796
  ensembl transcript: ENST00000537090
  gene symbol: D2HGDH
  hgvsc: ENST00000537090.1:c.239C>A
  hgvsp: ENSP00000442796.1:p.Thr80Lys
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000315351
  ensembl transcript: ENST00000321264
  gene symbol: D2HGDH
  hgvsc: ENST00000321264.4:c.239C>A
  hgvsp: ENSP00000315351.4:p.Thr80Lys
  variant of: http://identifiers.org/hgnc/28358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34580
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9471
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6146
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3066
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1568
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6612
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr80Lys
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum

2-242674886-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242674886
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242674886
    reference: chr 2
allele count: 1
allele frequency: 9.211326246753007e-6
allele num: 108562
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000315351
  ensembl transcript: ENST00000321264
  gene symbol: D2HGDH
  hgvsc: ENST00000321264.4:c.247G>A
  hgvsp: ENSP00000315351.4:p.Glu83Lys
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000400212
  ensembl transcript: ENST00000436747
  gene symbol: D2HGDH
  hgvsc: ENST00000436747.1:c.247G>A
  hgvsp: ENSP00000400212.1:p.Glu83Lys
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000384723
  ensembl transcript: ENST00000403782
  gene symbol: D2HGDH
  hgvsc: ENST00000403782.1:c.-111+776G>A
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000339536
  ensembl transcript: ENST00000342518
  gene symbol: D2HGDH
  hgvsc: ENST00000342518.6:c.247G>A
  hgvsp: ENSP00000339536.6:p.Glu83Lys
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000442796
  ensembl transcript: ENST00000537090
  gene symbol: D2HGDH
  hgvsc: ENST00000537090.1:c.247G>A
  hgvsp: ENSP00000442796.1:p.Glu83Lys
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180902
  ensembl transcript: ENST00000463932
  gene symbol: D2HGDH
  hgvsc: ENST00000463932.1:n.340G>A
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000215692
  ensembl transcript: ENST00000400768
  gene symbol: AC114730.8
  hgvsc: ENST00000400768.2:n.28C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000383580
  ensembl transcript: ENST00000400769
  gene symbol: D2HGDH
  hgvsc: ENST00000400769.2:c.247G>A
  hgvsp: ENSP00000383580.2:p.Glu83Lys
  variant of: http://identifiers.org/hgnc/28358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1900
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10026
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3151
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5137
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35442
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5689
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38371
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1004
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu83Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: African
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

2-242674889-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242674889
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242674889
    reference: chr 2
allele count: 1
allele frequency: 9.167415338919345e-6
allele num: 109082
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000215692
  ensembl transcript: ENST00000400768
  gene symbol: AC114730.8
  hgvsc: ENST00000400768.2:n.25C>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000442796
  ensembl transcript: ENST00000537090
  gene symbol: D2HGDH
  hgvsc: ENST00000537090.1:c.250G>T
  hgvsp: ENSP00000442796.1:p.Ala84Ser
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000383580
  ensembl transcript: ENST00000400769
  gene symbol: D2HGDH
  hgvsc: ENST00000400769.2:c.250G>T
  hgvsp: ENSP00000383580.2:p.Ala84Ser
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000400212
  ensembl transcript: ENST00000436747
  gene symbol: D2HGDH
  hgvsc: ENST00000436747.1:c.250G>T
  hgvsp: ENSP00000400212.1:p.Ala84Ser
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180902
  ensembl transcript: ENST00000463932
  gene symbol: D2HGDH
  hgvsc: ENST00000463932.1:n.343G>T
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000315351
  ensembl transcript: ENST00000321264
  gene symbol: D2HGDH
  hgvsc: ENST00000321264.4:c.250G>T
  hgvsp: ENSP00000315351.4:p.Ala84Ser
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000384723
  ensembl transcript: ENST00000403782
  gene symbol: D2HGDH
  hgvsc: ENST00000403782.1:c.-111+779G>T
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000339536
  ensembl transcript: ENST00000342518
  gene symbol: D2HGDH
  hgvsc: ENST00000342518.6:c.250G>T
  hgvsp: ENSP00000339536.6:p.Ala84Ser
  variant of: http://identifiers.org/hgnc/28358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3146
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4891
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10107
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35732
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1593
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2872
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ala84Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum

2-242674890-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242674890
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242674890
    reference: chr 2
allele count: 2
allele frequency: 1.831132921938804e-5
allele num: 109222
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000339536
  ensembl transcript: ENST00000342518
  gene symbol: D2HGDH
  hgvsc: ENST00000342518.6:c.251C>G
  hgvsp: ENSP00000339536.6:p.Ala84Gly
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000315351
  ensembl transcript: ENST00000321264
  gene symbol: D2HGDH
  hgvsc: ENST00000321264.4:c.251C>G
  hgvsp: ENSP00000315351.4:p.Ala84Gly
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000215692
  ensembl transcript: ENST00000400768
  gene symbol: AC114730.8
  hgvsc: ENST00000400768.2:n.24G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000442796
  ensembl transcript: ENST00000537090
  gene symbol: D2HGDH
  hgvsc: ENST00000537090.1:c.251C>G
  hgvsp: ENSP00000442796.1:p.Ala84Gly
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000384723
  ensembl transcript: ENST00000403782
  gene symbol: D2HGDH
  hgvsc: ENST00000403782.1:c.-111+780C>G
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000400212
  ensembl transcript: ENST00000436747
  gene symbol: D2HGDH
  hgvsc: ENST00000436747.1:c.251C>G
  hgvsp: ENSP00000400212.1:p.Ala84Gly
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180902
  ensembl transcript: ENST00000463932
  gene symbol: D2HGDH
  hgvsc: ENST00000463932.1:n.344C>G
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000383580
  ensembl transcript: ENST00000400769
  gene symbol: D2HGDH
  hgvsc: ENST00000400769.2:c.251C>G
  hgvsp: ENSP00000383580.2:p.Ala84Gly
  variant of: http://identifiers.org/hgnc/28358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35737
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3169
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4814
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10192
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1004
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2874
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5402
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala84Gly
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
reference allele: C
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

2-242674890-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242674890
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242674890
    reference: chr 2
allele count: 1
allele frequency: 9.155664609694018e-6
allele num: 109222
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000215692
  ensembl transcript: ENST00000400768
  gene symbol: AC114730.8
  hgvsc: ENST00000400768.2:n.24G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000339536
  ensembl transcript: ENST00000342518
  gene symbol: D2HGDH
  hgvsc: ENST00000342518.6:c.251C>T
  hgvsp: ENSP00000339536.6:p.Ala84Val
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180902
  ensembl transcript: ENST00000463932
  gene symbol: D2HGDH
  hgvsc: ENST00000463932.1:n.344C>T
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000442796
  ensembl transcript: ENST00000537090
  gene symbol: D2HGDH
  hgvsc: ENST00000537090.1:c.251C>T
  hgvsp: ENSP00000442796.1:p.Ala84Val
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000384723
  ensembl transcript: ENST00000403782
  gene symbol: D2HGDH
  hgvsc: ENST00000403782.1:c.-111+780C>T
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000400212
  ensembl transcript: ENST00000436747
  gene symbol: D2HGDH
  hgvsc: ENST00000436747.1:c.251C>T
  hgvsp: ENSP00000400212.1:p.Ala84Val
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000315351
  ensembl transcript: ENST00000321264
  gene symbol: D2HGDH
  hgvsc: ENST00000321264.4:c.251C>T
  hgvsp: ENSP00000315351.4:p.Ala84Val
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000383580
  ensembl transcript: ENST00000400769
  gene symbol: D2HGDH
  hgvsc: ENST00000400769.2:c.251C>T
  hgvsp: ENSP00000383580.2:p.Ala84Val
  variant of: http://identifiers.org/hgnc/28358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3169
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35737
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10192
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4814
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5402
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1004
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1594
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala84Val
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum

2-242674892-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242674892
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242674892
    reference: chr 2
allele count: 1
allele frequency: 9.131252625235129e-6
allele num: 109514
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000339536
  ensembl transcript: ENST00000342518
  gene symbol: D2HGDH
  hgvsc: ENST00000342518.6:c.253C>G
  hgvsp: ENSP00000339536.6:p.Leu85Val
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000215692
  ensembl transcript: ENST00000400768
  gene symbol: AC114730.8
  hgvsc: ENST00000400768.2:n.22G>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000315351
  ensembl transcript: ENST00000321264
  gene symbol: D2HGDH
  hgvsc: ENST00000321264.4:c.253C>G
  hgvsp: ENSP00000315351.4:p.Leu85Val
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000442796
  ensembl transcript: ENST00000537090
  gene symbol: D2HGDH
  hgvsc: ENST00000537090.1:c.253C>G
  hgvsp: ENSP00000442796.1:p.Leu85Val
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000400212
  ensembl transcript: ENST00000436747
  gene symbol: D2HGDH
  hgvsc: ENST00000436747.1:c.253C>G
  hgvsp: ENSP00000400212.1:p.Leu85Val
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000383580
  ensembl transcript: ENST00000400769
  gene symbol: D2HGDH
  hgvsc: ENST00000400769.2:c.253C>G
  hgvsp: ENSP00000383580.2:p.Leu85Val
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000384723
  ensembl transcript: ENST00000403782
  gene symbol: D2HGDH
  hgvsc: ENST00000403782.1:c.-111+782C>G
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180902
  ensembl transcript: ENST00000463932
  gene symbol: D2HGDH
  hgvsc: ENST00000463932.1:n.346C>G
  variant of: http://identifiers.org/hgnc/28358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3163
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35834
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4672
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1593
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu85Val
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

2-242674896-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242674896
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242674896
    reference: chr 2
allele count: 1
allele frequency: 9.089752213354665e-6
allele num: 110014
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000339536
  ensembl transcript: ENST00000342518
  gene symbol: D2HGDH
  hgvsc: ENST00000342518.6:c.257A>G
  hgvsp: ENSP00000339536.6:p.Gln86Arg
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000400212
  ensembl transcript: ENST00000436747
  gene symbol: D2HGDH
  hgvsc: ENST00000436747.1:c.257A>G
  hgvsp: ENSP00000400212.1:p.Gln86Arg
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000215692
  ensembl transcript: ENST00000400768
  gene symbol: AC114730.8
  hgvsc: ENST00000400768.2:n.18T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000383580
  ensembl transcript: ENST00000400769
  gene symbol: D2HGDH
  hgvsc: ENST00000400769.2:c.257A>G
  hgvsp: ENSP00000383580.2:p.Gln86Arg
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000384723
  ensembl transcript: ENST00000403782
  gene symbol: D2HGDH
  hgvsc: ENST00000403782.1:c.-111+786A>G
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000442796
  ensembl transcript: ENST00000537090
  gene symbol: D2HGDH
  hgvsc: ENST00000537090.1:c.257A>G
  hgvsp: ENSP00000442796.1:p.Gln86Arg
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000315351
  ensembl transcript: ENST00000321264
  gene symbol: D2HGDH
  hgvsc: ENST00000321264.4:c.257A>G
  hgvsp: ENSP00000315351.4:p.Gln86Arg
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180902
  ensembl transcript: ENST00000463932
  gene symbol: D2HGDH
  hgvsc: ENST00000463932.1:n.350A>G
  variant of: http://identifiers.org/hgnc/28358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3219
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35833
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10488
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4425
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1668
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5089
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gln86Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD

2-242674902-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242674902
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242674902
    reference: chr 2
allele count: 1
allele frequency: 9.047481181239142e-6
allele num: 110528
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180902
  ensembl transcript: ENST00000463932
  gene symbol: D2HGDH
  hgvsc: ENST00000463932.1:n.356C>T
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000400212
  ensembl transcript: ENST00000436747
  gene symbol: D2HGDH
  hgvsc: ENST00000436747.1:c.263C>T
  hgvsp: ENSP00000400212.1:p.Pro88Leu
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000339536
  ensembl transcript: ENST00000342518
  gene symbol: D2HGDH
  hgvsc: ENST00000342518.6:c.263C>T
  hgvsp: ENSP00000339536.6:p.Pro88Leu
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000383580
  ensembl transcript: ENST00000400769
  gene symbol: D2HGDH
  hgvsc: ENST00000400769.2:c.263C>T
  hgvsp: ENSP00000383580.2:p.Pro88Leu
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000384723
  ensembl transcript: ENST00000403782
  gene symbol: D2HGDH
  hgvsc: ENST00000403782.1:c.-111+792C>T
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000315351
  ensembl transcript: ENST00000321264
  gene symbol: D2HGDH
  hgvsc: ENST00000321264.4:c.263C>T
  hgvsp: ENSP00000315351.4:p.Pro88Leu
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000215692
  ensembl transcript: ENST00000400768
  gene symbol: AC114730.8
  hgvsc: ENST00000400768.2:n.12G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000442796
  ensembl transcript: ENST00000537090
  gene symbol: D2HGDH
  hgvsc: ENST00000537090.1:c.263C>T
  hgvsp: ENSP00000442796.1:p.Pro88Leu
  variant of: http://identifiers.org/hgnc/28358
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 10731
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35770
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1869
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3230
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5125
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro88Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

2-242674907-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242674907
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242674907
    reference: chr 2
allele count: 2
allele frequency: 1.802321389950256e-5
allele num: 110968
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000315351
  ensembl transcript: ENST00000321264
  gene symbol: D2HGDH
  hgvsc: ENST00000321264.4:c.268G>T
  hgvsp: ENSP00000315351.4:p.Val90Leu
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000215692
  ensembl transcript: ENST00000400768
  gene symbol: AC114730.8
  hgvsc: ENST00000400768.2:n.7C>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000400212
  ensembl transcript: ENST00000436747
  gene symbol: D2HGDH
  hgvsc: ENST00000436747.1:c.268G>T
  hgvsp: ENSP00000400212.1:p.Val90Leu
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180902
  ensembl transcript: ENST00000463932
  gene symbol: D2HGDH
  hgvsc: ENST00000463932.1:n.361G>T
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000384723
  ensembl transcript: ENST00000403782
  gene symbol: D2HGDH
  hgvsc: ENST00000403782.1:c.-111+797G>T
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000339536
  ensembl transcript: ENST00000342518
  gene symbol: D2HGDH
  hgvsc: ENST00000342518.6:c.268G>T
  hgvsp: ENSP00000339536.6:p.Val90Leu
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000442796
  ensembl transcript: ENST00000537090
  gene symbol: D2HGDH
  hgvsc: ENST00000537090.1:c.268G>T
  hgvsp: ENSP00000442796.1:p.Val90Leu
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000383580
  ensembl transcript: ENST00000400769
  gene symbol: D2HGDH
  hgvsc: ENST00000400769.2:c.268G>T
  hgvsp: ENSP00000383580.2:p.Val90Leu
  variant of: http://identifiers.org/hgnc/28358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10871
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35754
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3958
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3263
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1669
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 894
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val90Leu
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

2-242674916-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242674916
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242674916
    reference: chr 2
allele count: 1
allele frequency: 9.000738060520962e-6
allele num: 111102
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000383580
  ensembl transcript: ENST00000400769
  gene symbol: D2HGDH
  hgvsc: ENST00000400769.2:c.277T>C
  hgvsp: ENST00000400769.2:c.277T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000400212
  ensembl transcript: ENST00000436747
  gene symbol: D2HGDH
  hgvsc: ENST00000436747.1:c.277T>C
  hgvsp: ENST00000436747.1:c.277T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000315351
  ensembl transcript: ENST00000321264
  gene symbol: D2HGDH
  hgvsc: ENST00000321264.4:c.277T>C
  hgvsp: ENST00000321264.4:c.277T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180902
  ensembl transcript: ENST00000463932
  gene symbol: D2HGDH
  hgvsc: ENST00000463932.1:n.370T>C
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000384723
  ensembl transcript: ENST00000403782
  gene symbol: D2HGDH
  hgvsc: ENST00000403782.1:c.-111+806T>C
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000442796
  ensembl transcript: ENST00000537090
  gene symbol: D2HGDH
  hgvsc: ENST00000537090.1:c.277T>C
  hgvsp: ENST00000537090.1:c.277T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000339536
  ensembl transcript: ENST00000342518
  gene symbol: D2HGDH
  hgvsc: ENST00000342518.6:c.277T>C
  hgvsp: ENST00000342518.6:c.277T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28358
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10991
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3751
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34688
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2630
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3261
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1590
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2875
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1665
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38650
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu93Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/2-242674919-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242674919
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242674919
    reference: chr 2
allele count: 1
allele frequency: 9.005277092376133e-6
allele num: 111046
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000384723
  ensembl transcript: ENST00000403782
  gene symbol: D2HGDH
  hgvsc: ENST00000403782.1:c.-111+809C>A
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000315351
  ensembl transcript: ENST00000321264
  gene symbol: D2HGDH
  hgvsc: ENST00000321264.4:c.280C>A
  hgvsp: ENST00000321264.4:c.280C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000339536
  ensembl transcript: ENST00000342518
  gene symbol: D2HGDH
  hgvsc: ENST00000342518.6:c.280C>A
  hgvsp: ENST00000342518.6:c.280C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000400212
  ensembl transcript: ENST00000436747
  gene symbol: D2HGDH
  hgvsc: ENST00000436747.1:c.280C>A
  hgvsp: ENST00000436747.1:c.280C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000383580
  ensembl transcript: ENST00000400769
  gene symbol: D2HGDH
  hgvsc: ENST00000400769.2:c.280C>A
  hgvsp: ENST00000400769.2:c.280C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000442796
  ensembl transcript: ENST00000537090
  gene symbol: D2HGDH
  hgvsc: ENST00000537090.1:c.280C>A
  hgvsp: ENST00000537090.1:c.280C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180902
  ensembl transcript: ENST00000463932
  gene symbol: D2HGDH
  hgvsc: ENST00000463932.1:n.373C>A
  variant of: http://identifiers.org/hgnc/28358
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3666
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34240
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3343
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11041
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1648
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5035
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38025
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1051
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5031
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg94Arg
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

2-242674926-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242674926
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242674926
    reference: chr 2
allele count: 1
allele frequency: 9.002196535954774e-6
allele num: 111084
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000383580
  ensembl transcript: ENST00000400769
  gene symbol: D2HGDH
  hgvsc: ENST00000400769.2:c.287T>A
  hgvsp: ENSP00000383580.2:p.Leu96Gln
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180902
  ensembl transcript: ENST00000463932
  gene symbol: D2HGDH
  hgvsc: ENST00000463932.1:n.380T>A
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000400212
  ensembl transcript: ENST00000436747
  gene symbol: D2HGDH
  hgvsc: ENST00000436747.1:c.287T>A
  hgvsp: ENSP00000400212.1:p.Leu96Gln
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000442796
  ensembl transcript: ENST00000537090
  gene symbol: D2HGDH
  hgvsc: ENST00000537090.1:c.287T>A
  hgvsp: ENSP00000442796.1:p.Leu96Gln
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000339536
  ensembl transcript: ENST00000342518
  gene symbol: D2HGDH
  hgvsc: ENST00000342518.6:c.287T>A
  hgvsp: ENSP00000339536.6:p.Leu96Gln
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000384723
  ensembl transcript: ENST00000403782
  gene symbol: D2HGDH
  hgvsc: ENST00000403782.1:c.-111+816T>A
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000315351
  ensembl transcript: ENST00000321264
  gene symbol: D2HGDH
  hgvsc: ENST00000321264.4:c.287T>A
  hgvsp: ENSP00000315351.4:p.Leu96Gln
  variant of: http://identifiers.org/hgnc/28358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11088
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33615
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3244
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3609
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3270
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 991
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1126
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5052
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5254
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu96Gln
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

2-242674926-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242674926
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242674926
    reference: chr 2
allele count: 1
allele frequency: 9.002196535954774e-6
allele num: 111084
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000442796
  ensembl transcript: ENST00000537090
  gene symbol: D2HGDH
  hgvsc: ENST00000537090.1:c.287T>G
  hgvsp: ENSP00000442796.1:p.Leu96Arg
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180902
  ensembl transcript: ENST00000463932
  gene symbol: D2HGDH
  hgvsc: ENST00000463932.1:n.380T>G
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000384723
  ensembl transcript: ENST00000403782
  gene symbol: D2HGDH
  hgvsc: ENST00000403782.1:c.-111+816T>G
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000400212
  ensembl transcript: ENST00000436747
  gene symbol: D2HGDH
  hgvsc: ENST00000436747.1:c.287T>G
  hgvsp: ENSP00000400212.1:p.Leu96Arg
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000383580
  ensembl transcript: ENST00000400769
  gene symbol: D2HGDH
  hgvsc: ENST00000400769.2:c.287T>G
  hgvsp: ENSP00000383580.2:p.Leu96Arg
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000339536
  ensembl transcript: ENST00000342518
  gene symbol: D2HGDH
  hgvsc: ENST00000342518.6:c.287T>G
  hgvsp: ENSP00000339536.6:p.Leu96Arg
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000315351
  ensembl transcript: ENST00000321264
  gene symbol: D2HGDH
  hgvsc: ENST00000321264.4:c.287T>G
  hgvsp: ENSP00000315351.4:p.Leu96Arg
  variant of: http://identifiers.org/hgnc/28358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3244
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3270
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11088
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3609
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33615
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1126
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37714
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 915
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 892
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu96Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD

2-242674936-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242674936
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242674936
    reference: chr 2
allele count: 2
allele frequency: 1.802938790228072e-5
allele num: 110930
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000339536
  ensembl transcript: ENST00000342518
  gene symbol: D2HGDH
  hgvsc: ENST00000342518.6:c.292+5G>T
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl transcript: ENST00000463932
  gene symbol: D2HGDH
  hgvsc: ENST00000463932.1:n.385+5G>T
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000383580
  ensembl transcript: ENST00000400769
  gene symbol: D2HGDH
  hgvsc: ENST00000400769.2:c.292+5G>T
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000400212
  ensembl transcript: ENST00000436747
  gene symbol: D2HGDH
  hgvsc: ENST00000436747.1:c.292+5G>T
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000384723
  ensembl transcript: ENST00000403782
  gene symbol: D2HGDH
  hgvsc: ENST00000403782.1:c.-111+826G>T
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000442796
  ensembl transcript: ENST00000537090
  gene symbol: D2HGDH
  hgvsc: ENST00000537090.1:c.292+5G>T
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000315351
  ensembl transcript: ENST00000321264
  gene symbol: D2HGDH
  hgvsc: ENST00000321264.4:c.292+5G>T
  variant of: http://identifiers.org/hgnc/28358
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10938
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4563
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3287
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31031
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3442
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35355
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1529
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5643
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 929
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1663
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
hgvs: c.292+5G>T
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

2-242674938-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242674938
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242674938
    reference: chr 2
allele count: 1
allele frequency: 9.025596591934728e-6
allele num: 110796
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl transcript: ENST00000463932
  gene symbol: D2HGDH
  hgvsc: ENST00000463932.1:n.385+7G>A
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000315351
  ensembl transcript: ENST00000321264
  gene symbol: D2HGDH
  hgvsc: ENST00000321264.4:c.292+7G>A
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000384723
  ensembl transcript: ENST00000403782
  gene symbol: D2HGDH
  hgvsc: ENST00000403782.1:c.-111+828G>A
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000442796
  ensembl transcript: ENST00000537090
  gene symbol: D2HGDH
  hgvsc: ENST00000537090.1:c.292+7G>A
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000339536
  ensembl transcript: ENST00000342518
  gene symbol: D2HGDH
  hgvsc: ENST00000342518.6:c.292+7G>A
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000400212
  ensembl transcript: ENST00000436747
  gene symbol: D2HGDH
  hgvsc: ENST00000436747.1:c.292+7G>A
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000383580
  ensembl transcript: ENST00000400769
  gene symbol: D2HGDH
  hgvsc: ENST00000400769.2:c.292+7G>A
  variant of: http://identifiers.org/hgnc/28358
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3409
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10678
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3284
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29682
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4979
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3671
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1600
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5700
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1379
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4654
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2127
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 4.75e1
  variant carriers: 0
hgvs: c.292+7G>A
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

2-242674940-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242674940
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242674940
    reference: chr 2
allele count: 702
allele frequency: 6.336197559390569e-3
allele num: 110792
alternate allele: A
annotation: Annotation
  canonical: true
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000315351
  ensembl transcript: ENST00000321264
  gene symbol: D2HGDH
  hgvsc: ENST00000321264.4:c.292+9G>A
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl transcript: ENST00000463932
  gene symbol: D2HGDH
  hgvsc: ENST00000463932.1:n.385+9G>A
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000442796
  ensembl transcript: ENST00000537090
  gene symbol: D2HGDH
  hgvsc: ENST00000537090.1:c.292+9G>A
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000400212
  ensembl transcript: ENST00000436747
  gene symbol: D2HGDH
  hgvsc: ENST00000436747.1:c.292+9G>A
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000339536
  ensembl transcript: ENST00000342518
  gene symbol: D2HGDH
  hgvsc: ENST00000342518.6:c.292+9G>A
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000384723
  ensembl transcript: ENST00000403782
  gene symbol: D2HGDH
  hgvsc: ENST00000403782.1:c.-111+830G>A
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000383580
  ensembl transcript: ENST00000400769
  gene symbol: D2HGDH
  hgvsc: ENST00000400769.2:c.292+9G>A
  variant of: http://identifiers.org/hgnc/28358
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 28633
  bin: 2.25e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.25e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 2.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 10409
  bin: 2.75e1
  variant carriers: 89
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 4.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 3371
  bin: 7.5e0
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 4420
  bin: 1.75e1
  variant carriers: 71
genotype depth: GenotypeDepth
  all individuals: 5146
  bin: 1.25e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 3.75e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3376
  bin: 3.25e1
  variant carriers: 92
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 1482
  bin: 7.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 5.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 5627
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 32441
  bin: 6.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 959
  bin: 8.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 1.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 8.75e1
  variant carriers: 2
num of homozygotes: 20
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ

2-242674950-G-GC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242674950
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242674951
    reference: chr 2
allele count: 4
allele frequency: 3.654302941713868e-5
allele num: 109460
alternate allele: GC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000442796
  ensembl transcript: ENST00000537090
  gene symbol: D2HGDH
  hgvsc: ENST00000537090.1:c.292+20dupC
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl transcript: ENST00000463932
  gene symbol: D2HGDH
  hgvsc: ENST00000463932.1:n.385+20dupC
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000315351
  ensembl transcript: ENST00000321264
  gene symbol: D2HGDH
  hgvsc: ENST00000321264.4:c.292+20dupC
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000384723
  ensembl transcript: ENST00000403782
  gene symbol: D2HGDH
  hgvsc: ENST00000403782.1:c.-111+841dupC
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000383580
  ensembl transcript: ENST00000400769
  gene symbol: D2HGDH
  hgvsc: ENST00000400769.2:c.292+20dupC
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000339536
  ensembl transcript: ENST00000342518
  gene symbol: D2HGDH
  hgvsc: ENST00000342518.6:c.292+20dupC
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000400212
  ensembl transcript: ENST00000436747
  gene symbol: D2HGDH
  hgvsc: ENST00000436747.1:c.292+20dupC
  variant of: http://identifiers.org/hgnc/28358
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 3171
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7012
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3691
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27096
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5302
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9001
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25321
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4114
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1695
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1152
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2967
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5103
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1547
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1557
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

2-242674955-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242674955
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242674955
    reference: chr 2
allele count: 19
allele frequency: 1.747737140334094e-4
allele num: 108712
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000400212
  ensembl transcript: ENST00000436747
  gene symbol: D2HGDH
  hgvsc: ENST00000436747.1:c.292+24G>T
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000383580
  ensembl transcript: ENST00000400769
  gene symbol: D2HGDH
  hgvsc: ENST00000400769.2:c.292+24G>T
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000442796
  ensembl transcript: ENST00000537090
  gene symbol: D2HGDH
  hgvsc: ENST00000537090.1:c.292+24G>T
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl transcript: ENST00000463932
  gene symbol: D2HGDH
  hgvsc: ENST00000463932.1:n.385+24G>T
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000315351
  ensembl transcript: ENST00000321264
  gene symbol: D2HGDH
  hgvsc: ENST00000321264.4:c.292+24G>T
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000339536
  ensembl transcript: ENST00000342518
  gene symbol: D2HGDH
  hgvsc: ENST00000342518.6:c.292+24G>T
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000384723
  ensembl transcript: ENST00000403782
  gene symbol: D2HGDH
  hgvsc: ENST00000403782.1:c.-111+845G>T
  variant of: http://identifiers.org/hgnc/28358
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3310
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5493
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7037
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3767
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25845
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9720
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2982
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1227
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4639
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3501
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3535
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1562
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2122
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1487
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-242674959-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242674959
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242674959
    reference: chr 2
allele count: 74505
allele frequency: 6.843231625548799e-1
allele num: 108874
alternate allele: G
annotation: Annotation
  canonical: true
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000315351
  ensembl transcript: ENST00000321264
  gene symbol: D2HGDH
  hgvsc: ENST00000321264.4:c.292+28T>G
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl transcript: ENST00000463932
  gene symbol: D2HGDH
  hgvsc: ENST00000463932.1:n.385+28T>G
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000339536
  ensembl transcript: ENST00000342518
  gene symbol: D2HGDH
  hgvsc: ENST00000342518.6:c.292+28T>G
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000442796
  ensembl transcript: ENST00000537090
  gene symbol: D2HGDH
  hgvsc: ENST00000537090.1:c.292+28T>G
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000400212
  ensembl transcript: ENST00000436747
  gene symbol: D2HGDH
  hgvsc: ENST00000436747.1:c.292+28T>G
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000383580
  ensembl transcript: ENST00000400769
  gene symbol: D2HGDH
  hgvsc: ENST00000400769.2:c.292+28T>G
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000384723
  ensembl transcript: ENST00000403782
  gene symbol: D2HGDH
  hgvsc: ENST00000403782.1:c.-111+849T>G
  variant of: http://identifiers.org/hgnc/28358
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 7.75e1
  variant carriers: 457
genotype depth: GenotypeDepth
  all individuals: 3347
  bin: 7.5e0
  variant carriers: 2430
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 8.25e1
  variant carriers: 408
genotype depth: GenotypeDepth
  all individuals: 7588
  bin: 2.75e1
  variant carriers: 6513
genotype depth: GenotypeDepth
  all individuals: 5363
  bin: 3.25e1
  variant carriers: 5060
genotype depth: GenotypeDepth
  all individuals: 2553
  bin: 4.75e1
  variant carriers: 2542
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 2.5e0
  variant carriers: 494
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 8.75e1
  variant carriers: 307
genotype depth: GenotypeDepth
  all individuals: 6349
  bin: 1.25e1
  variant carriers: 5160
genotype depth: GenotypeDepth
  all individuals: 4367
  bin: 3.75e1
  variant carriers: 4308
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 6.25e1
  variant carriers: 909
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 5.75e1
  variant carriers: 1274
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 5.25e1
  variant carriers: 1823
genotype depth: GenotypeDepth
  all individuals: 7683
  bin: 1.75e1
  variant carriers: 7096
genotype depth: GenotypeDepth
  all individuals: 3401
  bin: 4.25e1
  variant carriers: 3364
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 9.75e1
  variant carriers: 1096
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 6.75e1
  variant carriers: 677
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.25e1
  variant carriers: 273
genotype depth: GenotypeDepth
  all individuals: 10217
  bin: 2.25e1
  variant carriers: 7379
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.25e1
  variant carriers: 535
genotype quality: GenotypeQuality
  all individuals: 1567
  bin: 8.25e1
  variant carriers: 1488
genotype quality: GenotypeQuality
  all individuals: 1592
  bin: 4.75e1
  variant carriers: 1513
genotype quality: GenotypeQuality
  all individuals: 1538
  bin: 7.75e1
  variant carriers: 1419
genotype quality: GenotypeQuality
  all individuals: 1800
  bin: 5.25e1
  variant carriers: 1720
genotype quality: GenotypeQuality
  all individuals: 1159
  bin: 5.75e1
  variant carriers: 1095
genotype quality: GenotypeQuality
  all individuals: 1771
  bin: 2.25e1
  variant carriers: 853
genotype quality: GenotypeQuality
  all individuals: 950
  bin: 2.5e0
  variant carriers: 144
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 8.75e1
  variant carriers: 921
num of homozygotes: 25819
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

2-242674964-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242674964
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242674964
    reference: chr 2
allele count: 1
allele frequency: 9.593982654079361e-6
allele num: 104232
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000442796
  ensembl transcript: ENST00000537090
  gene symbol: D2HGDH
  hgvsc: ENST00000537090.1:c.292+33G>C
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000339536
  ensembl transcript: ENST00000342518
  gene symbol: D2HGDH
  hgvsc: ENST00000342518.6:c.292+33G>C
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000384723
  ensembl transcript: ENST00000403782
  gene symbol: D2HGDH
  hgvsc: ENST00000403782.1:c.-111+854G>C
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl transcript: ENST00000463932
  gene symbol: D2HGDH
  hgvsc: ENST00000463932.1:n.385+33G>C
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000315351
  ensembl transcript: ENST00000321264
  gene symbol: D2HGDH
  hgvsc: ENST00000321264.4:c.292+33G>C
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000400212
  ensembl transcript: ENST00000436747
  gene symbol: D2HGDH
  hgvsc: ENST00000436747.1:c.292+33G>C
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000383580
  ensembl transcript: ENST00000400769
  gene symbol: D2HGDH
  hgvsc: ENST00000400769.2:c.292+33G>C
  variant of: http://identifiers.org/hgnc/28358
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5518
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11295
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5604
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11835
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8396
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7512
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2427
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2231
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1706
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5124
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1310
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15031
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8747
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

2-242674965-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242674965
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242674965
    reference: chr 2
allele count: 4
allele frequency: 3.847337642351493e-5
allele num: 103968
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl transcript: ENST00000463932
  gene symbol: D2HGDH
  hgvsc: ENST00000463932.1:n.385+34C>G
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000383580
  ensembl transcript: ENST00000400769
  gene symbol: D2HGDH
  hgvsc: ENST00000400769.2:c.292+34C>G
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000384723
  ensembl transcript: ENST00000403782
  gene symbol: D2HGDH
  hgvsc: ENST00000403782.1:c.-111+855C>G
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000442796
  ensembl transcript: ENST00000537090
  gene symbol: D2HGDH
  hgvsc: ENST00000537090.1:c.292+34C>G
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000400212
  ensembl transcript: ENST00000436747
  gene symbol: D2HGDH
  hgvsc: ENST00000436747.1:c.292+34C>G
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000315351
  ensembl transcript: ENST00000321264
  gene symbol: D2HGDH
  hgvsc: ENST00000321264.4:c.292+34C>G
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000339536
  ensembl transcript: ENST00000342518
  gene symbol: D2HGDH
  hgvsc: ENST00000342518.6:c.292+34C>G
  variant of: http://identifiers.org/hgnc/28358
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5640
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10867
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5497
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11851
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2085
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8178
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2420
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1684
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8701
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3482
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 933
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2197
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1464
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5276
  bin: 3.25e1
  variant carriers: 1
num of homozygotes: 1
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

2-242674967-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242674967
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242674967
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 103956
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000384723
  ensembl transcript: ENST00000403782
  gene symbol: D2HGDH
  hgvsc: ENST00000403782.1:c.-111+857T>A
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl transcript: ENST00000463932
  gene symbol: D2HGDH
  hgvsc: ENST00000463932.1:n.385+36T>A
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000442796
  ensembl transcript: ENST00000537090
  gene symbol: D2HGDH
  hgvsc: ENST00000537090.1:c.292+36T>A
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000315351
  ensembl transcript: ENST00000321264
  gene symbol: D2HGDH
  hgvsc: ENST00000321264.4:c.292+36T>A
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000400212
  ensembl transcript: ENST00000436747
  gene symbol: D2HGDH
  hgvsc: ENST00000436747.1:c.292+36T>A
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000383580
  ensembl transcript: ENST00000400769
  gene symbol: D2HGDH
  hgvsc: ENST00000400769.2:c.292+36T>A
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000339536
  ensembl transcript: ENST00000342518
  gene symbol: D2HGDH
  hgvsc: ENST00000342518.6:c.292+36T>A
  variant of: http://identifiers.org/hgnc/28358
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 8848
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10435
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7878
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5733
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5357
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11896
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8717
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13640
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1663
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 932
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1609
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5116
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

2-242674969-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242674969
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242674969
    reference: chr 2
allele count: 1
allele frequency: 9.654373431164317e-6
allele num: 103580
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000339536
  ensembl transcript: ENST00000342518
  gene symbol: D2HGDH
  hgvsc: ENST00000342518.6:c.292+38C>G
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000384723
  ensembl transcript: ENST00000403782
  gene symbol: D2HGDH
  hgvsc: ENST00000403782.1:c.-111+859C>G
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl transcript: ENST00000463932
  gene symbol: D2HGDH
  hgvsc: ENST00000463932.1:n.385+38C>G
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000383580
  ensembl transcript: ENST00000400769
  gene symbol: D2HGDH
  hgvsc: ENST00000400769.2:c.292+38C>G
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000400212
  ensembl transcript: ENST00000436747
  gene symbol: D2HGDH
  hgvsc: ENST00000436747.1:c.292+38C>G
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000442796
  ensembl transcript: ENST00000537090
  gene symbol: D2HGDH
  hgvsc: ENST00000537090.1:c.292+38C>G
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000315351
  ensembl transcript: ENST00000321264
  gene symbol: D2HGDH
  hgvsc: ENST00000321264.4:c.292+38C>G
  variant of: http://identifiers.org/hgnc/28358
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11869
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9978
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5280
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9570
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5816
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7635
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3585
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4467
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2179
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1901
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4054
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1761
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1508
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP

2-242674974-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242674974
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242674974
    reference: chr 2
allele count: 1
allele frequency: 9.734823410303337e-6
allele num: 102724
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl transcript: ENST00000463932
  gene symbol: D2HGDH
  hgvsc: ENST00000463932.1:n.385+43T>C
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000384723
  ensembl transcript: ENST00000403782
  gene symbol: D2HGDH
  hgvsc: ENST00000403782.1:c.-111+864T>C
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000400212
  ensembl transcript: ENST00000436747
  gene symbol: D2HGDH
  hgvsc: ENST00000436747.1:c.292+43T>C
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000442796
  ensembl transcript: ENST00000537090
  gene symbol: D2HGDH
  hgvsc: ENST00000537090.1:c.292+43T>C
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000383580
  ensembl transcript: ENST00000400769
  gene symbol: D2HGDH
  hgvsc: ENST00000400769.2:c.292+43T>C
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000339536
  ensembl transcript: ENST00000342518
  gene symbol: D2HGDH
  hgvsc: ENST00000342518.6:c.292+43T>C
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000315351
  ensembl transcript: ENST00000321264
  gene symbol: D2HGDH
  hgvsc: ENST00000321264.4:c.292+43T>C
  variant of: http://identifiers.org/hgnc/28358
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11016
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2167
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4803
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6260
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8005
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11630
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8477
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5692
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1494
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2874
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4957
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1180
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3656
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

2-242674974-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242674974
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242674974
    reference: chr 2
allele count: 1
allele frequency: 9.734823410303337e-6
allele num: 102724
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000315351
  ensembl transcript: ENST00000321264
  gene symbol: D2HGDH
  hgvsc: ENST00000321264.4:c.292+43T>G
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000339536
  ensembl transcript: ENST00000342518
  gene symbol: D2HGDH
  hgvsc: ENST00000342518.6:c.292+43T>G
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000442796
  ensembl transcript: ENST00000537090
  gene symbol: D2HGDH
  hgvsc: ENST00000537090.1:c.292+43T>G
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000400212
  ensembl transcript: ENST00000436747
  gene symbol: D2HGDH
  hgvsc: ENST00000436747.1:c.292+43T>G
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000383580
  ensembl transcript: ENST00000400769
  gene symbol: D2HGDH
  hgvsc: ENST00000400769.2:c.292+43T>G
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl transcript: ENST00000463932
  gene symbol: D2HGDH
  hgvsc: ENST00000463932.1:n.385+43T>G
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000384723
  ensembl transcript: ENST00000403782
  gene symbol: D2HGDH
  hgvsc: ENST00000403782.1:c.-111+864T>G
  variant of: http://identifiers.org/hgnc/28358
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4803
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2167
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11016
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8477
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6260
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11630
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8005
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1494
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2192
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1566
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2218
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2095
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10636
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3656
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/2-242674976-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242674976
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242674976
    reference: chr 2
allele count: 1
allele frequency: 9.76963207565603e-6
allele num: 102358
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000400212
  ensembl transcript: ENST00000436747
  gene symbol: D2HGDH
  hgvsc: ENST00000436747.1:c.292+45C>A
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl transcript: ENST00000463932
  gene symbol: D2HGDH
  hgvsc: ENST00000463932.1:n.385+45C>A
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000384723
  ensembl transcript: ENST00000403782
  gene symbol: D2HGDH
  hgvsc: ENST00000403782.1:c.-111+866C>A
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000442796
  ensembl transcript: ENST00000537090
  gene symbol: D2HGDH
  hgvsc: ENST00000537090.1:c.292+45C>A
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000383580
  ensembl transcript: ENST00000400769
  gene symbol: D2HGDH
  hgvsc: ENST00000400769.2:c.292+45C>A
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000339536
  ensembl transcript: ENST00000342518
  gene symbol: D2HGDH
  hgvsc: ENST00000342518.6:c.292+45C>A
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000315351
  ensembl transcript: ENST00000321264
  gene symbol: D2HGDH
  hgvsc: ENST00000321264.4:c.292+45C>A
  variant of: http://identifiers.org/hgnc/28358
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2350
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10949
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8006
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11542
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8600
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4702
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6409
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4995
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2074
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2277
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1052
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1175
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5721
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5104
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: African
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-242674981-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242674981
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242674981
    reference: chr 2
allele count: 1
allele frequency: 9.876933409714951e-6
allele num: 101246
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000442796
  ensembl transcript: ENST00000537090
  gene symbol: D2HGDH
  hgvsc: ENST00000537090.1:c.292+50C>A
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000315351
  ensembl transcript: ENST00000321264
  gene symbol: D2HGDH
  hgvsc: ENST00000321264.4:c.292+50C>A
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl transcript: ENST00000463932
  gene symbol: D2HGDH
  hgvsc: ENST00000463932.1:n.385+50C>A
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000384723
  ensembl transcript: ENST00000403782
  gene symbol: D2HGDH
  hgvsc: ENST00000403782.1:c.-111+871C>A
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000400212
  ensembl transcript: ENST00000436747
  gene symbol: D2HGDH
  hgvsc: ENST00000436747.1:c.292+50C>A
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000339536
  ensembl transcript: ENST00000342518
  gene symbol: D2HGDH
  hgvsc: ENST00000342518.6:c.292+50C>A
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000383580
  ensembl transcript: ENST00000400769
  gene symbol: D2HGDH
  hgvsc: ENST00000400769.2:c.292+50C>A
  variant of: http://identifiers.org/hgnc/28358
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10078
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11350
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6775
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2162
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10819
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6908
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4322
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5787
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2102
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1138
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3210
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2860
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7414
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 2032
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7470
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2163
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

2-242680408-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242680408
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242680408
    reference: chr 2
allele count: 1
allele frequency: 8.960091751339533e-6
allele num: 111606
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000383580
  ensembl transcript: ENST00000400769
  gene symbol: D2HGDH
  hgvsc: ENST00000400769.2:c.293-40T>C
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000384723
  ensembl transcript: ENST00000403782
  gene symbol: D2HGDH
  hgvsc: ENST00000403782.1:c.-110-40T>C
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000315351
  ensembl transcript: ENST00000321264
  gene symbol: D2HGDH
  hgvsc: ENST00000321264.4:c.293-40T>C
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000442796
  ensembl transcript: ENST00000537090
  gene symbol: D2HGDH
  hgvsc: ENST00000537090.1:c.293-40T>C
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000339536
  ensembl transcript: ENST00000342518
  gene symbol: D2HGDH
  hgvsc: ENST00000342518.6:c.293-40T>C
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000400212
  ensembl transcript: ENST00000436747
  gene symbol: D2HGDH
  hgvsc: ENST00000436747.1:c.293-40T>C
  variant of: http://identifiers.org/hgnc/28358
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11953
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4056
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6225
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2392
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8074
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 413
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 377
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3773
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4797
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 427
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5330
  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 409
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 376
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

2-242680409-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242680409
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242680409
    reference: chr 2
allele count: 2
allele frequency: 1.791312136139722e-5
allele num: 111650
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000339536
  ensembl transcript: ENST00000342518
  gene symbol: D2HGDH
  hgvsc: ENST00000342518.6:c.293-39C>T
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000315351
  ensembl transcript: ENST00000321264
  gene symbol: D2HGDH
  hgvsc: ENST00000321264.4:c.293-39C>T
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000400212
  ensembl transcript: ENST00000436747
  gene symbol: D2HGDH
  hgvsc: ENST00000436747.1:c.293-39C>T
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000384723
  ensembl transcript: ENST00000403782
  gene symbol: D2HGDH
  hgvsc: ENST00000403782.1:c.-110-39C>T
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000383580
  ensembl transcript: ENST00000400769
  gene symbol: D2HGDH
  hgvsc: ENST00000400769.2:c.293-39C>T
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000442796
  ensembl transcript: ENST00000537090
  gene symbol: D2HGDH
  hgvsc: ENST00000537090.1:c.293-39C>T
  variant of: http://identifiers.org/hgnc/28358
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2392
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7371
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11599
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19645
  bin: 2.25e1
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genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 503
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genotype depth: GenotypeDepth
  all individuals: 487
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 18407
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum

http://identifiers.org/exac.variant/2-242680413-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242680413
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242680413
    reference: chr 2
allele count: 2
allele frequency: 1.775883502042266e-5
allele num: 112620
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000315351
  ensembl transcript: ENST00000321264
  gene symbol: D2HGDH
  hgvsc: ENST00000321264.4:c.293-35C>A
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000400212
  ensembl transcript: ENST00000436747
  gene symbol: D2HGDH
  hgvsc: ENST00000436747.1:c.293-35C>A
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000339536
  ensembl transcript: ENST00000342518
  gene symbol: D2HGDH
  hgvsc: ENST00000342518.6:c.293-35C>A
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000384723
  ensembl transcript: ENST00000403782
  gene symbol: D2HGDH
  hgvsc: ENST00000403782.1:c.-110-35C>A
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000383580
  ensembl transcript: ENST00000400769
  gene symbol: D2HGDH
  hgvsc: ENST00000400769.2:c.293-35C>A
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000442796
  ensembl transcript: ENST00000537090
  gene symbol: D2HGDH
  hgvsc: ENST00000537090.1:c.293-35C>A
  variant of: http://identifiers.org/hgnc/28358
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2526
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3915
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 526
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7060
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23225
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2392
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4722
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8470
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4217
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2245
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4254
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4234
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4144
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1416
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/2-242680414-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242680414
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242680414
    reference: chr 2
allele count: 2
allele frequency: 1.77393032001703e-5
allele num: 112744
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000339536
  ensembl transcript: ENST00000342518
  gene symbol: D2HGDH
  hgvsc: ENST00000342518.6:c.293-34C>A
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000383580
  ensembl transcript: ENST00000400769
  gene symbol: D2HGDH
  hgvsc: ENST00000400769.2:c.293-34C>A
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000315351
  ensembl transcript: ENST00000321264
  gene symbol: D2HGDH
  hgvsc: ENST00000321264.4:c.293-34C>A
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000384723
  ensembl transcript: ENST00000403782
  gene symbol: D2HGDH
  hgvsc: ENST00000403782.1:c.-110-34C>A
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000442796
  ensembl transcript: ENST00000537090
  gene symbol: D2HGDH
  hgvsc: ENST00000537090.1:c.293-34C>A
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000400212
  ensembl transcript: ENST00000436747
  gene symbol: D2HGDH
  hgvsc: ENST00000436747.1:c.293-34C>A
  variant of: http://identifiers.org/hgnc/28358
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9566
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4366
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7224
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2392
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2572
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3882
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23795
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4162
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3925
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8480
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4115
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1188
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1518
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22560
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

2-242680417-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242680417
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242680417
    reference: chr 2
allele count: 5
allele frequency: 4.42297825663889e-5
allele num: 113046
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000442796
  ensembl transcript: ENST00000537090
  gene symbol: D2HGDH
  hgvsc: ENST00000537090.1:c.293-31G>A
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000315351
  ensembl transcript: ENST00000321264
  gene symbol: D2HGDH
  hgvsc: ENST00000321264.4:c.293-31G>A
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000400212
  ensembl transcript: ENST00000436747
  gene symbol: D2HGDH
  hgvsc: ENST00000436747.1:c.293-31G>A
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000383580
  ensembl transcript: ENST00000400769
  gene symbol: D2HGDH
  hgvsc: ENST00000400769.2:c.293-31G>A
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000339536
  ensembl transcript: ENST00000342518
  gene symbol: D2HGDH
  hgvsc: ENST00000342518.6:c.293-31G>A
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000384723
  ensembl transcript: ENST00000403782
  gene symbol: D2HGDH
  hgvsc: ENST00000403782.1:c.-110-31G>A
  variant of: http://identifiers.org/hgnc/28358
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2393
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2955
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3718
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26428
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7713
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2795
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7805
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25755
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1978
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1054
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1255
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3481
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3952
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1529
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

2-242680419-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242680419
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242680419
    reference: chr 2
allele count: 5
allele frequency: 4.400323863836378e-5
allele num: 113628
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000384723
  ensembl transcript: ENST00000403782
  gene symbol: D2HGDH
  hgvsc: ENST00000403782.1:c.-110-29T>C
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000339536
  ensembl transcript: ENST00000342518
  gene symbol: D2HGDH
  hgvsc: ENST00000342518.6:c.293-29T>C
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000442796
  ensembl transcript: ENST00000537090
  gene symbol: D2HGDH
  hgvsc: ENST00000537090.1:c.293-29T>C
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000400212
  ensembl transcript: ENST00000436747
  gene symbol: D2HGDH
  hgvsc: ENST00000436747.1:c.293-29T>C
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000383580
  ensembl transcript: ENST00000400769
  gene symbol: D2HGDH
  hgvsc: ENST00000400769.2:c.293-29T>C
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000315351
  ensembl transcript: ENST00000321264
  gene symbol: D2HGDH
  hgvsc: ENST00000321264.4:c.293-29T>C
  variant of: http://identifiers.org/hgnc/28358
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6843
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3616
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2393
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2306
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27811
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2881
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7973
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1965
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3057
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26989
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 852
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2425
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1768
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

2-242680425-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242680425
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242680425
    reference: chr 2
allele count: 1758
allele frequency: 1.531946042037018e-2
allele num: 114756
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000339536
  ensembl transcript: ENST00000342518
  gene symbol: D2HGDH
  hgvsc: ENST00000342518.6:c.293-23A>T
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000315351
  ensembl transcript: ENST00000321264
  gene symbol: D2HGDH
  hgvsc: ENST00000321264.4:c.293-23A>T
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000383580
  ensembl transcript: ENST00000400769
  gene symbol: D2HGDH
  hgvsc: ENST00000400769.2:c.293-23A>T
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000400212
  ensembl transcript: ENST00000436747
  gene symbol: D2HGDH
  hgvsc: ENST00000436747.1:c.293-23A>T
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000384723
  ensembl transcript: ENST00000403782
  gene symbol: D2HGDH
  hgvsc: ENST00000403782.1:c.-110-23A>T
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000442796
  ensembl transcript: ENST00000537090
  gene symbol: D2HGDH
  hgvsc: ENST00000537090.1:c.293-23A>T
  variant of: http://identifiers.org/hgnc/28358
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 4.75e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 3.75e1
  variant carriers: 146
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8968
  bin: 2.75e1
  variant carriers: 365
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 5.25e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 4651
  bin: 1.25e1
  variant carriers: 87
genotype depth: GenotypeDepth
  all individuals: 2465
  bin: 9.75e1
  variant carriers: 127
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 29596
  bin: 2.25e1
  variant carriers: 321
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3085
  bin: 7.5e0
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 4.25e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 1.75e1
  variant carriers: 230
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 6.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 3333
  bin: 3.25e1
  variant carriers: 245
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 5.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 3219
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1449
  bin: 8.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 8.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1454
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 9.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1302
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.25e1
  variant carriers: 5
num of homozygotes: 27
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

2-242680426-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242680426
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242680426
    reference: chr 2
allele count: 2
allele frequency: 1.739402689116557e-5
allele num: 114982
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000339536
  ensembl transcript: ENST00000342518
  gene symbol: D2HGDH
  hgvsc: ENST00000342518.6:c.293-22T>G
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000400212
  ensembl transcript: ENST00000436747
  gene symbol: D2HGDH
  hgvsc: ENST00000436747.1:c.293-22T>G
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000315351
  ensembl transcript: ENST00000321264
  gene symbol: D2HGDH
  hgvsc: ENST00000321264.4:c.293-22T>G
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000442796
  ensembl transcript: ENST00000537090
  gene symbol: D2HGDH
  hgvsc: ENST00000537090.1:c.293-22T>G
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000383580
  ensembl transcript: ENST00000400769
  gene symbol: D2HGDH
  hgvsc: ENST00000400769.2:c.293-22T>G
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000384723
  ensembl transcript: ENST00000403782
  gene symbol: D2HGDH
  hgvsc: ENST00000403782.1:c.-110-22T>G
  variant of: http://identifiers.org/hgnc/28358
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2465
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4377
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3016
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29944
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9047
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3380
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 938
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1617
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1249
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2271
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3160
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5230
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

2-242680429-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242680429
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242680429
    reference: chr 2
allele count: 2
allele frequency: 1.731331913641164e-5
allele num: 115518
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000384723
  ensembl transcript: ENST00000403782
  gene symbol: D2HGDH
  hgvsc: ENST00000403782.1:c.-110-19G>T
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000339536
  ensembl transcript: ENST00000342518
  gene symbol: D2HGDH
  hgvsc: ENST00000342518.6:c.293-19G>T
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000383580
  ensembl transcript: ENST00000400769
  gene symbol: D2HGDH
  hgvsc: ENST00000400769.2:c.293-19G>T
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000315351
  ensembl transcript: ENST00000321264
  gene symbol: D2HGDH
  hgvsc: ENST00000321264.4:c.293-19G>T
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000442796
  ensembl transcript: ENST00000537090
  gene symbol: D2HGDH
  hgvsc: ENST00000537090.1:c.293-19G>T
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000400212
  ensembl transcript: ENST00000436747
  gene symbol: D2HGDH
  hgvsc: ENST00000436747.1:c.293-19G>T
  variant of: http://identifiers.org/hgnc/28358
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3583
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9480
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3535
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2465
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30643
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2756
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2379
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2897
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30203
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8905
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1052
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/2-242680430-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242680430
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242680430
    reference: chr 2
allele count: 1
allele frequency: 8.449799739746167e-6
allele num: 118346
alternate allele: C
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000339536
  ensembl transcript: ENST00000342518
  gene symbol: D2HGDH
  hgvsc: ENST00000342518.6:c.293-18A>C
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000442796
  ensembl transcript: ENST00000537090
  gene symbol: D2HGDH
  hgvsc: ENST00000537090.1:c.293-18A>C
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000315351
  ensembl transcript: ENST00000321264
  gene symbol: D2HGDH
  hgvsc: ENST00000321264.4:c.293-18A>C
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000384723
  ensembl transcript: ENST00000403782
  gene symbol: D2HGDH
  hgvsc: ENST00000403782.1:c.-110-18A>C
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000383580
  ensembl transcript: ENST00000400769
  gene symbol: D2HGDH
  hgvsc: ENST00000400769.2:c.293-18A>C
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000400212
  ensembl transcript: ENST00000436747
  gene symbol: D2HGDH
  hgvsc: ENST00000436747.1:c.293-18A>C
  variant of: http://identifiers.org/hgnc/28358
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10918
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5454
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14405
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3554
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1936
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3519
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7960
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4617
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11435
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1116
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36555
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1147
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

2-242680430-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242680430
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242680430
    reference: chr 2
allele count: 58395
allele frequency: 4.934260558024775e-1
allele num: 118346
alternate allele: G
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000442796
  ensembl transcript: ENST00000537090
  gene symbol: D2HGDH
  hgvsc: ENST00000537090.1:c.293-18A>G
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000384723
  ensembl transcript: ENST00000403782
  gene symbol: D2HGDH
  hgvsc: ENST00000403782.1:c.-110-18A>G
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000339536
  ensembl transcript: ENST00000342518
  gene symbol: D2HGDH
  hgvsc: ENST00000342518.6:c.293-18A>G
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: true
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000315351
  ensembl transcript: ENST00000321264
  gene symbol: D2HGDH
  hgvsc: ENST00000321264.4:c.293-18A>G
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000400212
  ensembl transcript: ENST00000436747
  gene symbol: D2HGDH
  hgvsc: ENST00000436747.1:c.293-18A>G
  variant of: http://identifiers.org/hgnc/28358
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180902
  ensembl protein: ENSP00000383580
  ensembl transcript: ENST00000400769
  gene symbol: D2HGDH
  hgvsc: ENST00000400769.2:c.293-18A>G
  variant of: http://identifiers.org/hgnc/28358
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2119
  bin: 4.75e1
  variant carriers: 1971
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 5.75e1
  variant carriers: 818
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.75e1
  variant carriers: 222
genotype depth: GenotypeDepth
  all individuals: 14405
  bin: 2.25e1
  variant carriers: 6018
genotype depth: GenotypeDepth
  all individuals: 3554
  bin: 1.75e1
  variant carriers: 3343
genotype depth: GenotypeDepth
  all individuals: 3519
  bin: 4.25e1
  variant carriers: 3354
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 5.25e1
  variant carriers: 1336
genotype depth: GenotypeDepth
  all individuals: 4617
  bin: 9.75e1
  variant carriers: 4239
genotype depth: GenotypeDepth
  all individuals: 7960
  bin: 3.25e1
  variant carriers: 6939
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 6.25e1
  variant carriers: 559
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 10918
  bin: 2.75e1
  variant carriers: 7302
genotype depth: GenotypeDepth
  all individuals: 1936
  bin: 1.25e1
  variant carriers: 1339
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.25e1
  variant carriers: 147
genotype depth: GenotypeDepth
  all individuals: 5454
  bin: 3.75e1
  variant carriers: 5135
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 7.5e0
  variant carriers: 316
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.75e1
  variant carriers: 411
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 8.75e1
  variant carriers: 192
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.25e1
  variant carriers: 298
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 8.25e1
  variant carriers: 179
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 1.25e1
  variant carriers: 98
genotype quality: GenotypeQuality
  all individuals: 841
  bin: 7.25e1
  variant carriers: 588
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 3.75e1
  variant carriers: 352
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 2.75e1
  variant carriers: 183
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 2.25e1
  variant carriers: 172
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 1.75e1
  variant carriers: 140
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 7.5e0
  variant carriers: 76
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 5.25e1
  variant carriers: 681
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 5.75e1
  variant carriers: 474
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 4.75e1
  variant carriers: 612
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 3.25e1
  variant carriers: 260
num of homozygotes: 14910
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

2-242680432-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242680432
allele count: 12
allele frequency: 1.015279963449921e-4
allele num: 118194
alternate allele: G
canonical: true
consequence: intron
filter: PASS
num of homozygotes: 1
reference allele: C

GenotypeQuality
all individuals: 1076
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1623
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 931
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 515
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 30117
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9062
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14918
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2214
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2156
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 618
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 9.56e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

DP
type: SiteQuality
SIO_000300: 5.59896e5

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.77e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.27e-1

GenotypeQuality
all individuals: 30297
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 909
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 880
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11454
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1600
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1676
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7400
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 345
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 383
bin: 7.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2294
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 676
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2244
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.342762907522517e-5
allele num: 15766
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

QD
type: SiteQuality
SIO_000300: 8.119999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.59e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.986e-1

FS
type: SiteQuality
SIO_000300: 2.869e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.7387e5

GenotypeQuality
all individuals: 1146
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 961
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30183
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 847
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7503
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1559
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 722
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 218
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2308
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16280
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9212
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 4.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.06e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.48e-1

QD
type: SiteQuality
SIO_000300: 1.407e1

DP
type: SiteQuality
SIO_000300: 5.80182e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.22e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.76e-1

GenotypeQuality
all individuals: 469
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1146
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1619
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11126
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 961
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1727
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30183
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7503
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 218
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 1.085540599218411e-4
allele num: 9212
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 722
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2308
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16280
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.80182e5

ClippingRankSum
type: SiteQuality
SIO_000300: -8.76e-1

QD
type: SiteQuality
SIO_000300: 1.407e1

MQRankSum
type: SiteQuality
SIO_000300: -3.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.06e-1

FS
type: SiteQuality
SIO_000300: 5.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.22e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

GenotypeQuality
all individuals: 1060
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 426
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29959
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9815
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1260
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18410
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1056
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2668
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9482
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.22e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.590000000000001e-1

DP
type: SiteQuality
SIO_000300: 6.09028e5

QD
type: SiteQuality
SIO_000300: 8.800000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

GenotypeQuality
all individuals: 9508
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 598
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1882
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1270
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 425
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variant carriers: 0

GenotypeQuality
all individuals: 461
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 831
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.299417064122947e-5
allele num: 18870
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9488
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1078
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2598
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2712
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.17103e5

QD
type: SiteQuality
SIO_000300: 2.05e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.22e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 8.5e-1

GenotypeQuality
all individuals: 533
bin: 5.75e1
variant carriers: 420

GenotypeQuality
all individuals: 846
bin: 5.25e1
variant carriers: 664

GenotypeQuality
all individuals: 904
bin: 1.25e1
variant carriers: 402

GenotypeQuality
all individuals: 5635
bin: 7.5e0
variant carriers: 334

GenotypeQuality
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bin: 2.5e0
variant carriers: 114

GenotypeQuality
all individuals: 729
bin: 7.75e1
variant carriers: 520

GenotypeQuality
all individuals: 886
bin: 4.75e1
variant carriers: 626

GenotypeQuality
all individuals: 791
bin: 8.25e1
variant carriers: 644

GenotypeQuality
all individuals: 719
bin: 8.75e1
variant carriers: 670

GenotypeQuality
all individuals: 4757
bin: 6.25e1
variant carriers: 394

GenotypeQuality
all individuals: 997
bin: 6.75e1
variant carriers: 379

GenotypeQuality
all individuals: 607
bin: 9.25e1
variant carriers: 550

GenotypeQuality
all individuals: 1542
bin: 3.25e1
variant carriers: 604

GenotypeQuality
all individuals: 623
bin: 7.25e1
variant carriers: 386

GenotypeQuality
all individuals: 15799
bin: 2.25e1
variant carriers: 796

Latino
type: Population
allele count: 1028
allele frequency: 4.044059795436664e-1
allele num: 2542
num of homozygotes: 100

European (Non-Finnish)
type: Population
allele count: 13929
allele frequency: 4.303324270884825e-1
allele num: 32368
num of homozygotes: 2134

East Asian
type: Population
allele count: 754
allele frequency: 2.226816302421737e-1
allele num: 3386
num of homozygotes: 54

African
type: Population
allele count: 1247
allele frequency: 3.212261720762494e-1
allele num: 3882
num of homozygotes: 120

South Asian
type: Population
allele count: 3868
allele frequency: 3.412740427033704e-1
allele num: 11334
num of homozygotes: 595

Other
type: Population
allele count: 150
allele frequency: 3.947368421052632e-1
allele num: 380
num of homozygotes: 17

European (Finnish)
type: Population
allele count: 907
allele frequency: 4.580808080808081e-1
allele num: 1980
num of homozygotes: 124

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.84e-2

QD
type: SiteQuality
SIO_000300: 1.708e1

VQSLOD
type: SiteQuality
SIO_000300: 4.55e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.51e-1

DP
type: SiteQuality
SIO_000300: 9.38064e5

MQRankSum
type: SiteQuality
SIO_000300: 7.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

GenotypeQuality
all individuals: 623
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 719
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 607
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variant carriers: 0

GenotypeQuality
all individuals: 904
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5635
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variant carriers: 0

GenotypeQuality
all individuals: 15799
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 608
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variant carriers: 0

GenotypeQuality
all individuals: 1139
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1584
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1542
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15880
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 997
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4757
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 886
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.823010411152286e-5
allele num: 11334
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3882
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3386
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 380
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32368
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1980
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.38064e5

QD
type: SiteQuality
SIO_000300: 1.708e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.84e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

MQRankSum
type: SiteQuality
SIO_000300: 7.7e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.55e0

GenotypeQuality
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bin: 9.75e1
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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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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
all individuals: 15799
bin: 2.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.089471082550667e-5
allele num: 32368
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3386
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3882
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1980
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11334
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 380
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.51e-1

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

FS
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SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.84e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.7e-2

DP
type: SiteQuality
SIO_000300: 9.38064e5

QD
type: SiteQuality
SIO_000300: 1.708e1

GenotypeQuality
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variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3530
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.778089887640449e-5
allele num: 11392
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2112
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 34228
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3982
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2752
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.82e0

MQ
type: SiteQuality
SIO_000300: 5.863e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.53e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.517e0

MQRankSum
type: SiteQuality
SIO_000300: -1.212e0

VQSLOD
type: SiteQuality
SIO_000300: -4.46e-1

QD
type: SiteQuality
SIO_000300: 3.34e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

DP
type: SiteQuality
SIO_000300: 8.68553e5

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 6195
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3982
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3530
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2112
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2752
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.778089887640449e-5
allele num: 11392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34228
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.212e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.517e0

QD
type: SiteQuality
SIO_000300: 3.34e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.82e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.53e-2

VQSLOD
type: SiteQuality
SIO_000300: -4.46e-1

MQ
type: SiteQuality
SIO_000300: 5.863e1

DP
type: SiteQuality
SIO_000300: 8.68553e5

GenotypeQuality
all individuals: 633
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 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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variant carriers: 34

GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 7744
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3704
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2858
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 4.582951420714941e-4
allele num: 2182
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 414
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4150
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 34
allele frequency: 9.626274065685165e-4
allele num: 35320
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.22e-1

DP
type: SiteQuality
SIO_000300: 8.89872e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.903e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-2

FS
type: SiteQuality
SIO_000300: 3.205e0

VQSLOD
type: SiteQuality
SIO_000300: 1.97e0

QD
type: SiteQuality
SIO_000300: 1.257e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-1

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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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
all individuals: 9667
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3904
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11634
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.749518834204014e-5
allele num: 36370
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4288
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2958
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2274
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.33e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.211e0

QD
type: SiteQuality
SIO_000300: 5.87e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.256e0

DP
type: SiteQuality
SIO_000300: 9.12351e5

BaseQRankSum
type: SiteQuality
SIO_000300: -2.362e0

MQRankSum
type: SiteQuality
SIO_000300: 3.52e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4400
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4030
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3130
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11758
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.368551028077522e-5
allele num: 37254
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2370
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.901e1

FS
type: SiteQuality
SIO_000300: 6.085e0

VQSLOD
type: SiteQuality
SIO_000300: -1.796e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

QD
type: SiteQuality
SIO_000300: 6.81e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.29e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.41e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.26e0

DP
type: SiteQuality
SIO_000300: 9.30998e5

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2594
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4800
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12132
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.492770964203809e-5
allele num: 40116
num of homozygotes: 0

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

Other
type: Population
allele count: 0
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allele num: 484
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.06e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.79e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.5e-1

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 9.91701e5

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

FS
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4800
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40116
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 484
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.77623542476402e-4
allele num: 3602
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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4406
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South Asian
type: Population
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allele frequency: 0.0e0
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num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.67e0

MQ
type: SiteQuality
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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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DP
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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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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variant carriers: 1

GenotypeQuality
all individuals: 15558
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2690
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3820
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 2.215330084182543e-4
allele num: 4514
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4952
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41216
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12318
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.7e-3

MQRankSum
type: SiteQuality
SIO_000300: -8.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.109e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.39e-1

FS
type: SiteQuality
SIO_000300: 4.068e0

VQSLOD
type: SiteQuality
SIO_000300: -2.39e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.4e-1

QD
type: SiteQuality
SIO_000300: 2.945e1

DP
type: SiteQuality
SIO_000300: 1.017674e6

GenotypeQuality
all individuals: 219
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2810
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 599
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42932
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4764
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12542
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2866
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 7.092198581560284e-4
allele num: 4230
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5218
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 522
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.05047e6

VQSLOD
type: SiteQuality
SIO_000300: 1.9e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -8.179999999999999e-1

FS
type: SiteQuality
SIO_000300: 1.68e0

MQRankSum
type: SiteQuality
SIO_000300: 2.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.27e-1

QD
type: SiteQuality
SIO_000300: 1.253e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2477
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 609
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.050020500205002e-4
allele num: 4878
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4462
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12670
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5364
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 532
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2952
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44118
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.4e-3

QD
type: SiteQuality
SIO_000300: 1.571e1

MQ
type: SiteQuality
SIO_000300: 5.934e1

MQRankSum
type: SiteQuality
SIO_000300: 1.21e0

FS
type: SiteQuality
SIO_000300: 4.715e0

VQSLOD
type: SiteQuality
SIO_000300: -3.402e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.28e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.492e0

DP
type: SiteQuality
SIO_000300: 1.074163e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4628
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5460
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 540
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3020
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44644
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12746
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.424e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.64e0

DP
type: SiteQuality
SIO_000300: 1.089202e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.2e-3

GenotypeQuality
all individuals: 361
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3033
bin: 6.75e1
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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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: 1107
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GenotypeQuality
all individuals: 663
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 1.07781849536538e-4
allele num: 46390
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5164
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3222
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5714
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12952
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 7.68344218209758e-4
allele num: 5206
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 562
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.984e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 7.65e-1

DP
type: SiteQuality
SIO_000300: 1.123518e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.9e-2

FS
type: SiteQuality
SIO_000300: 6.205e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

QD
type: SiteQuality
SIO_000300: 1.319e1

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-2

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

GenotypeQuality
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variant carriers: 4

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

GenotypeQuality
all individuals: 1437
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variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.687576875768758e-5
allele num: 13008
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5792
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3264
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.138854429567523e-5
allele num: 46754
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 3.75234521575985e-4
allele num: 5330
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.672e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.8e-3

MQ
type: SiteQuality
SIO_000300: 5.889e1

MQRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

FS
type: SiteQuality
SIO_000300: 6.829e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.964e0

QD
type: SiteQuality
SIO_000300: 2.14e1

DP
type: SiteQuality
SIO_000300: 1.131943e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.86e-1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48530
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5888
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3432
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5492
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 578
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.53465943339361e-5
allele num: 13272
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e0

MQRankSum
type: SiteQuality
SIO_000300: -1.81e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.53e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.58e0

DP
type: SiteQuality
SIO_000300: 1.17139e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.81e-1

QD
type: SiteQuality
SIO_000300: 1.675e1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5590
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.038320423970648e-5
allele num: 49060
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 586
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13348
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3494
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.152e1

MQRankSum
type: SiteQuality
SIO_000300: 3.43e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.212e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.51e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.184964e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5728
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13474
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3574
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6324
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6316
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.012234385061172e-5
allele num: 49696
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.738e0

DP
type: SiteQuality
SIO_000300: 1.195811e6

VQSLOD
type: SiteQuality
SIO_000300: -2.697e0

FS
type: SiteQuality
SIO_000300: 1.883e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.08e-1

MQ
type: SiteQuality
SIO_000300: 5.839e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.38e0

QD
type: SiteQuality
SIO_000300: 2.61e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.08e-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
all individuals: 296
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GenotypeQuality
all individuals: 409
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GenotypeQuality
all individuals: 1346
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.973554371422933e-5
allele num: 50670
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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QD
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ClippingRankSum
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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FS
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MQ
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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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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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: 1.898109482954977e-5
allele num: 52684
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African
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allele frequency: 0.0e0
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BaseQRankSum
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ReadPosRankSum
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MQ
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FS
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InbreedingCoeff
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DP
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ClippingRankSum
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MQRankSum
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VQSLOD
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East 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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South Asian
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allele frequency: 6.916585973163646e-5
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.29e-1

BaseQRankSum
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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MQ
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FS
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DP
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VQSLOD
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.794172527630257e-5
allele num: 55736
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 1.779296110458702e-5
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num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
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South Asian
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Other
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

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

GenotypeQuality
all individuals: 191
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60144
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10710
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 774
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7924
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15722
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5338
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.257861635220126e-4
allele num: 7950
num of homozygotes: 0

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 8.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.216e0

QD
type: SiteQuality
SIO_000300: 1.152e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.92e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.2e-1

DP
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SIO_000300: 1.439454e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

MQ
type: SiteQuality
SIO_000300: 5.93e1

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5416
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.656287266463495e-5
allele num: 60376
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7996
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15780
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10780
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7956
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.72e-1

MQ
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SIO_000300: 5.942e1

VQSLOD
type: SiteQuality
SIO_000300: 2.7e-2

ClippingRankSum
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QD
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SIO_000300: 1.036e1

FS
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SIO_000300: 6.162e0

DP
type: SiteQuality
SIO_000300: 1.444438e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.991e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5434
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15788
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7972
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.308847859175435e-5
allele num: 60444
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10800
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8008
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.003e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.080000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

MQRankSum
type: SiteQuality
SIO_000300: -5.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.65e-1

DP
type: SiteQuality
SIO_000300: 1.446878e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.396e0

QD
type: SiteQuality
SIO_000300: 1.385e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 10800
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15788
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.654423929587718e-5
allele num: 60444
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8008
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5434
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7972
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.6e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.080000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.396e0

DP
type: SiteQuality
SIO_000300: 1.446878e6

QD
type: SiteQuality
SIO_000300: 1.385e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

FS
type: SiteQuality
SIO_000300: 5.003e0

MQRankSum
type: SiteQuality
SIO_000300: -5.05e-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

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7992
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15822
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60584
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5478
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.2465719272002e-4
allele num: 8022
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10838
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.39e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.44962e6

FS
type: SiteQuality
SIO_000300: 1.6249e1

VQSLOD
type: SiteQuality
SIO_000300: -2.049e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.79e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.81e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8026
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10900
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15866
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.64354743277891e-5
allele num: 60844
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5548
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8050
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.58e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.7e-1

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 9.91e-1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.637197118533071e-5
allele num: 61080
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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8108
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8052
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10958
num of homozygotes: 0

Other
type: Population
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num of homozygotes: 0

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

QD
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.459358e6

MQRankSum
type: SiteQuality
SIO_000300: 1.24e-1

MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.849e0

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 0
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Other
type: Population
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African
type: Population
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8082
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10992
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5736
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.265732667123869e-5
allele num: 61242
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.099e0

DP
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
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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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.631214928879029e-5
allele num: 61304
num of homozygotes: 0

Latino
type: Population
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Other
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allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8206
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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East Asian
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DP
type: SiteQuality
SIO_000300: 1.456141e6

FS
type: SiteQuality
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QD
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VQSLOD
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MQ
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 365
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 744
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 443
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1575
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8190
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5768
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.632333257157781e-5
allele num: 61262
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11000
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15958
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8076
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

DP
type: SiteQuality
SIO_000300: 1.455301e6

MQ
type: SiteQuality
SIO_000300: 5.943e1

VQSLOD
type: SiteQuality
SIO_000300: -2.106e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.03e-1

QD
type: SiteQuality
SIO_000300: 7.81e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.08e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.17e-1

GenotypeQuality
all individuals: 165
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 915
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 892
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1570
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37714
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1643
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2876
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 428
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8210
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.095870474804439e-5
allele num: 10994
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61254
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 796
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15968
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5794
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8068
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

MQ
type: SiteQuality
SIO_000300: 5.963e1

FS
type: SiteQuality
SIO_000300: 4.165e0

VQSLOD
type: SiteQuality
SIO_000300: 3.6e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.27e-1

DP
type: SiteQuality
SIO_000300: 1.447987e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.31e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.72e-1

QD
type: SiteQuality
SIO_000300: 8.35e0

GenotypeQuality
all individuals: 2876
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 316
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5254
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5052
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1643
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 991
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1570
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.632546445946387e-5
allele num: 61254
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5794
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10994
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 796
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8210
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15968
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8068
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.6e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.31e-1

FS
type: SiteQuality
SIO_000300: 4.165e0

DP
type: SiteQuality
SIO_000300: 1.447987e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e-1

QD
type: SiteQuality
SIO_000300: 8.35e0

GenotypeQuality
all individuals: 246
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1608
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1330
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2874
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 363
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1391
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 978
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4822
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.271930111572817e-5
allele num: 61126
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8178
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10986
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8060
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15960
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5822
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.97e0

QD
type: SiteQuality
SIO_000300: 8.460000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: 4.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.05e-1

MQ
type: SiteQuality
SIO_000300: 5.94e1

MQRankSum
type: SiteQuality
SIO_000300: 2.54e-1

DP
type: SiteQuality
SIO_000300: 1.427264e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.616e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.62e-1

GenotypeQuality
all individuals: 274
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1403
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33712
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1603
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 974
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1513
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2873
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 362
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10966
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61024
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5826
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15948
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.241619071268935e-4
allele num: 8054
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.944000000000001e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

DP
type: SiteQuality
SIO_000300: 1.414974e6

VQSLOD
type: SiteQuality
SIO_000300: -4.997e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.874e0

QD
type: SiteQuality
SIO_000300: 1.464e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.59e-1

GenotypeQuality
all individuals: 115
bin: 2.5e0
variant carriers: 3

GenotypeQuality
all individuals: 1679
bin: 2.75e1
variant carriers: 5

GenotypeQuality
all individuals: 499
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1391
bin: 7.5e0
variant carriers: 6

GenotypeQuality
all individuals: 2355
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3533
bin: 9.75e1
variant carriers: 663

GenotypeQuality
all individuals: 335
bin: 5.25e1
variant carriers: 4

GenotypeQuality
all individuals: 1575
bin: 7.75e1
variant carriers: 4

GenotypeQuality
all individuals: 318
bin: 9.25e1
variant carriers: 8

GenotypeQuality
all individuals: 4529
bin: 6.75e1
variant carriers: 6

GenotypeQuality
all individuals: 473
bin: 4.75e1
variant carriers: 6

GenotypeQuality
all individuals: 1655
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 636
allele frequency: 7.712830463254912e-2
allele num: 8246
num of homozygotes: 19

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5814
num of homozygotes: 0

Latino
type: Population
allele count: 47
allele frequency: 4.285193289569657e-3
allele num: 10968
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8056
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.262626262626263e-3
allele num: 792
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.25549278091651e-4
allele num: 15930
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.623552946577903e-4
allele num: 60986
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.89e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.19e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.1e-1

DP
type: SiteQuality
SIO_000300: 1.419006e6

FS
type: SiteQuality
SIO_000300: 1.234e0

MQRankSum
type: SiteQuality
SIO_000300: 2.68e-1

QD
type: SiteQuality
SIO_000300: 1.25e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.66e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2048
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 762
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2533
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 652
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3417
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1446
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 973
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3430
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60232
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8010
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.682563063892469e-4
allele num: 10862
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7972
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15882
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5726
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.381995e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.07e-1

FS
type: SiteQuality
SIO_000300: 9.425000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.17e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.96e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.49e-1

QD
type: SiteQuality
SIO_000300: 1.139e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.85e-1

GenotypeQuality
all individuals: 21593
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3923
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1904
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 765
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 976
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1440
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3610
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2983
bin: 9.75e1
variant carriers: 20

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

South Asian
type: Population
allele count: 11
allele frequency: 6.951466127401415e-4
allele num: 15824
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 762
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7934
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.336094595497361e-4
allele num: 59876
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10766
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5632
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7918
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.46e0

MQRankSum
type: SiteQuality
SIO_000300: 1.7e-2

QD
type: SiteQuality
SIO_000300: 1.364e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.384559e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.9e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -6.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.47e-1

GenotypeQuality
all individuals: 1612
bin: 3.75e1
variant carriers: 1337

GenotypeQuality
all individuals: 1184
bin: 7.25e1
variant carriers: 1042

GenotypeQuality
all individuals: 4786
bin: 6.25e1
variant carriers: 1654

GenotypeQuality
all individuals: 1516
bin: 3.25e1
variant carriers: 1103

GenotypeQuality
all individuals: 698
bin: 7.5e0
variant carriers: 389

GenotypeQuality
all individuals: 488
bin: 1.25e1
variant carriers: 388

GenotypeQuality
all individuals: 1046
bin: 4.25e1
variant carriers: 953

GenotypeQuality
all individuals: 919
bin: 2.75e1
variant carriers: 595

GenotypeQuality
all individuals: 1122
bin: 9.25e1
variant carriers: 1100

GenotypeQuality
all individuals: 32094
bin: 9.75e1
variant carriers: 32078

GenotypeQuality
all individuals: 1955
bin: 6.75e1
variant carriers: 1576

GenotypeQuality
all individuals: 827
bin: 1.75e1
variant carriers: 737

African
type: Population
allele count: 7551
allele frequency: 9.237827257156839e-1
allele num: 8174
num of homozygotes: 3491

Other
type: Population
allele count: 545
allele frequency: 6.89873417721519e-1
allele num: 790
num of homozygotes: 183

Latino
type: Population
allele count: 8642
allele frequency: 8.109984984984985e-1
allele num: 10656
num of homozygotes: 3507

European (Finnish)
type: Population
allele count: 4218
allele frequency: 7.468130311614731e-1
allele num: 5648
num of homozygotes: 1565

East Asian
type: Population
allele count: 5708
allele frequency: 7.297366402454615e-1
allele num: 7822
num of homozygotes: 2061

South Asian
type: Population
allele count: 9035
allele frequency: 5.701034830893488e-1
allele num: 15848
num of homozygotes: 2598

European (Non-Finnish)
type: Population
allele count: 38806
allele frequency: 6.474572877736252e-1
allele num: 59936
num of homozygotes: 12414

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.31e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.1e-1

DP
type: SiteQuality
SIO_000300: 1.811294e6

ClippingRankSum
type: SiteQuality
SIO_000300: 9.1e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.331e1

MQRankSum
type: SiteQuality
SIO_000300: 4.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.28e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

GenotypeQuality
all individuals: 288
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 741
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2075
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1315
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1525
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5120
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3792
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 934
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4288
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3411
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.730463071918045e-5
allele num: 57788
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15424
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5200
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7592
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7516
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9976
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.365149e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.81e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.141e0

VQSLOD
type: SiteQuality
SIO_000300: -1.713e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.319e0

MQRankSum
type: SiteQuality
SIO_000300: -2.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-3

QD
type: SiteQuality
SIO_000300: 1.682e1

GenotypeQuality
all individuals: 2112
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7508
num of homozygotes: 0

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

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

African
type: Population
allele count: 3
allele frequency: 3.960918933192501e-4
allele num: 7574
num of homozygotes: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.73406395227856e-5
allele num: 57668
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5154
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.099e0

QD
type: SiteQuality
SIO_000300: 1.422e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

MQRankSum
type: SiteQuality
SIO_000300: -2.26e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.19e-1

DP
type: SiteQuality
SIO_000300: 1.356728e6

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5162
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57658
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15388
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9952
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 740
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.346888e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-3

QD
type: SiteQuality
SIO_000300: 1.097e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.83e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5132
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.338688085676038e-4
allele num: 7470
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7542
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9894
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15356
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57452
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.166e0

MQRankSum
type: SiteQuality
SIO_000300: 1.38e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.68e0

QD
type: SiteQuality
SIO_000300: 1.543e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.51e-1

DP
type: SiteQuality
SIO_000300: 1.339172e6

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2218
bin: 7.5e0
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3529
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57046
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7478
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9782
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 732
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.560818790185015e-5
allele num: 15242
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7396
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5048
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.19e-1

DP
type: SiteQuality
SIO_000300: 1.314363e6

VQSLOD
type: SiteQuality
SIO_000300: -2.211e-1

FS
type: SiteQuality
SIO_000300: 8.869999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.13e0

QD
type: SiteQuality
SIO_000300: 1.621e1

GenotypeQuality
all individuals: 3529
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5692
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7396
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9782
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 732
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5048
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7478
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15242
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.75297128633033e-5
allele num: 57046
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.13e0

FS
type: SiteQuality
SIO_000300: 8.869999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.1e-3

QD
type: SiteQuality
SIO_000300: 1.621e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.68e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.211e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.314363e6

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.758953071132062e-5
allele num: 56852
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9742
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 726
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5004
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7366
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15196
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7472
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.04e-1

DP
type: SiteQuality
SIO_000300: 1.309677e6

VQSLOD
type: SiteQuality
SIO_000300: 1.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.74e-1

MQ
type: SiteQuality
SIO_000300: 5.94e1

QD
type: SiteQuality
SIO_000300: 1.322e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.7e-3

FS
type: SiteQuality
SIO_000300: 8.276999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e-2

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15106
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4946
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7388
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.050199537912203e-4
allele num: 9522
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56292
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7272
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.4e-2

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 2.409e1

DP
type: SiteQuality
SIO_000300: 1.297032e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.1e-3

FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -6.52e-1

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5356
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8188
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.607665348381081e-5
allele num: 62202
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10302
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.4e-1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.894e1

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9490
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
type: Population
allele count: 1
allele frequency: 6.535093451836362e-5
allele num: 15302
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.608544588856003e-5
allele num: 62168
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.6e0

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.64658e6

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

GenotypeQuality
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variant carriers: 2

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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GenotypeQuality
all individuals: 1673
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GenotypeQuality
all individuals: 1168
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8250
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15388
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5390
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.188572157387922e-5
allele num: 62724
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10462
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

MQ
type: SiteQuality
SIO_000300: 5.95e1

FS
type: SiteQuality
SIO_000300: 2.471e0

VQSLOD
type: SiteQuality
SIO_000300: -3.958e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.78e-1

QD
type: SiteQuality
SIO_000300: 7.02e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.131e0

DP
type: SiteQuality
SIO_000300: 1.682965e6

GenotypeQuality
all individuals: 2193
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 681
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1447
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4297
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1726
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 752
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 743
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1713
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15396
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.592711751027299e-5
allele num: 62786
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8260
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10466
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.690498e6

FS
type: SiteQuality
SIO_000300: 1.3175e1

MQRankSum
type: SiteQuality
SIO_000300: 4.93e-1

QD
type: SiteQuality
SIO_000300: 1.126e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.733e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.57e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.625e0

GenotypeQuality
all individuals: 709
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8504
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 4562
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1106
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2963
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1827
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 531
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10518
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.298026998961578e-4
allele num: 15408
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.079866888519135e-4
allele num: 9616
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8300
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.588612823282709e-5
allele num: 62948
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.11e-1

FS
type: SiteQuality
SIO_000300: 2.167e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.84e-1

DP
type: SiteQuality
SIO_000300: 1.721668e6

QD
type: SiteQuality
SIO_000300: 1.048e1

VQSLOD
type: SiteQuality
SIO_000300: 1.67e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.84e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.71e-1

GenotypeQuality
all individuals: 1360
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4760
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3811
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 559
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8528
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 770
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1611
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63198
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10630
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.229556904792663e-4
allele num: 15482
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9664
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5484
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.549e1

MQRankSum
type: SiteQuality
SIO_000300: 5.29e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

DP
type: SiteQuality
SIO_000300: 1.738169e6

FS
type: SiteQuality
SIO_000300: 2.206e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 7.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.0e-3

GenotypeQuality
all individuals: 5010
bin: 6.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2052
bin: 3.25e1
variant carriers: 2

GenotypeQuality
all individuals: 2084
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 28971
bin: 6.25e1
variant carriers: 5

GenotypeQuality
all individuals: 488
bin: 4.75e1
variant carriers: 5

GenotypeQuality
all individuals: 1665
bin: 7.25e1
variant carriers: 3

GenotypeQuality
all individuals: 495
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10077
bin: 9.75e1
variant carriers: 1709

GenotypeQuality
all individuals: 80
bin: 1.75e1
variant carriers: 0

African
type: Population
allele count: 31
allele frequency: 3.176880508300881e-3
allele num: 9758
num of homozygotes: 0

Other
type: Population
allele count: 12
allele frequency: 1.418439716312057e-2
allele num: 846
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1387
allele frequency: 2.172823260331485e-2
allele num: 63834
num of homozygotes: 23

Latino
type: Population
allele count: 64
allele frequency: 5.956813104988831e-3
allele num: 10744
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.569728700618753e-4
allele num: 8404
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 181
allele frequency: 3.246054519368723e-2
allele num: 5576
num of homozygotes: 2

South Asian
type: Population
allele count: 80
allele frequency: 5.130178273695011e-3
allele num: 15594
num of homozygotes: 2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.92e-2

DP
type: SiteQuality
SIO_000300: 1.79591e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.09e0

QD
type: SiteQuality
SIO_000300: 1.538e1

VQSLOD
type: SiteQuality
SIO_000300: 2.88e0

FS
type: SiteQuality
SIO_000300: 6.31e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.19e-1

MQ
type: SiteQuality
SIO_000300: 5.943e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.88e-1

GenotypeQuality
all individuals: 79
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1952
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 647
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 513
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8876
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 29287
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1764
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1393
bin: 3.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8424
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10772
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.046663937781416e-4
allele num: 9772
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63952
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15620
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5596
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.63e0

DP
type: SiteQuality
SIO_000300: 1.801554e6

VQSLOD
type: SiteQuality
SIO_000300: 4.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.5e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

QD
type: SiteQuality
SIO_000300: 8.25e0

MQ
type: SiteQuality
SIO_000300: 5.914e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.61e-1

GenotypeQuality
all individuals: 73
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 995
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1571
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1735
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1122
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1837
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 5387
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9832
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10884
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5638
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.367984844896993e-4
allele num: 8446
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64188
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15680
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -8.3e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.67e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.322e1

DP
type: SiteQuality
SIO_000300: 1.820462e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 527
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2150
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 854
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 772
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 841
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 667
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1012
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 610
bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16208
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10258
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5954
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.531768886710373e-5
allele num: 65284
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.938e1

MQRankSum
type: SiteQuality
SIO_000300: 8.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.04e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.85e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e-1

DP
type: SiteQuality
SIO_000300: 2.437119e6

FS
type: SiteQuality
SIO_000300: 5.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.58e-1

QD
type: SiteQuality
SIO_000300: 2.005e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.29e0

GenotypeQuality
all individuals: 277
bin: 2.5e0
variant carriers: 59

GenotypeQuality
all individuals: 11435
bin: 6.25e1
variant carriers: 880

GenotypeQuality
all individuals: 1116
bin: 8.25e1
variant carriers: 1005

GenotypeQuality
all individuals: 2150
bin: 6.75e1
variant carriers: 931

GenotypeQuality
all individuals: 1147
bin: 7.75e1
variant carriers: 959

GenotypeQuality
all individuals: 1012
bin: 9.25e1
variant carriers: 940

GenotypeQuality
all individuals: 441
bin: 4.25e1
variant carriers: 307

GenotypeQuality
all individuals: 610
bin: 8.75e1
variant carriers: 568

GenotypeQuality
all individuals: 36555
bin: 9.75e1
variant carriers: 34850

European (Non-Finnish)
type: Population
allele count: 29691
allele frequency: 4.547975001531769e-1
allele num: 65284
num of homozygotes: 6668

African
type: Population
allele count: 8258
allele frequency: 8.05030220315851e-1
allele num: 10258
num of homozygotes: 3310

Latino
type: Population
allele count: 6229
allele frequency: 5.526082327892122e-1
allele num: 11272
num of homozygotes: 1723

East Asian
type: Population
allele count: 3136
allele frequency: 3.690280065897859e-1
allele num: 8498
num of homozygotes: 578

Other
type: Population
allele count: 437
allele frequency: 5.011467889908257e-1
allele num: 872
num of homozygotes: 106

South Asian
type: Population
allele count: 7932
allele frequency: 4.893879565646594e-1
allele num: 16208
num of homozygotes: 1931

European (Finnish)
type: Population
allele count: 2712
allele frequency: 4.55492106147128e-1
allele num: 5954
num of homozygotes: 594

ClippingRankSum
type: SiteQuality
SIO_000300: -1.58e-1

DP
type: SiteQuality
SIO_000300: 2.437119e6

MQ
type: SiteQuality
SIO_000300: 5.938e1

VQSLOD
type: SiteQuality
SIO_000300: 2.85e0

FS
type: SiteQuality
SIO_000300: 5.94e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.29e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.04e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e-1

QD
type: SiteQuality
SIO_000300: 2.005e1