5-78338142-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78338142
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78338142
    reference: chr 5
allele count: 8
allele frequency: 6.598591200778633e-5
allele num: 121238
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000369667
  ensembl transcript: ENST00000380311
  gene symbol: DMGDH
  hgvsc: ENST00000380311.4:c.554A>G
  hgvsp: ENSP00000369667.4:p.Gln185Arg
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000255189
  ensembl transcript: ENST00000255189
  gene symbol: DMGDH
  hgvsc: ENST00000255189.3:c.1157A>G
  hgvsp: ENSP00000255189.3:p.Gln386Arg
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000439478
  ensembl transcript: ENST00000540686
  gene symbol: DMGDH
  hgvsc: ENST00000540686.1:c.54-8911A>G
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000427834
  ensembl transcript: ENST00000518477
  gene symbol: DMGDH
  hgvsc: ENST00000518477.1:c.*391A>G
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430972
  ensembl transcript: ENST00000523732
  gene symbol: DMGDH
  hgvsc: ENST00000523732.1:c.674A>G
  hgvsp: ENSP00000430972.1:p.Gln225Arg
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000428995
  ensembl transcript: ENST00000517853
  gene symbol: DMGDH
  hgvsc: ENST00000517853.1:c.277-8911A>G
  variant of: http://identifiers.org/hgnc/24475
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2199
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33740
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5004
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11731
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 998
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9401
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 2639
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2142
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gln386Arg
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD

5-78338146-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78338146
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78338146
    reference: chr 5
allele count: 1
allele frequency: 8.246878556466378e-6
allele num: 121258
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000439478
  ensembl transcript: ENST00000540686
  gene symbol: DMGDH
  hgvsc: ENST00000540686.1:c.54-8915C>T
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000369667
  ensembl transcript: ENST00000380311
  gene symbol: DMGDH
  hgvsc: ENST00000380311.4:c.550C>T
  hgvsp: ENSP00000369667.4:p.His184Tyr
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000427834
  ensembl transcript: ENST00000518477
  gene symbol: DMGDH
  hgvsc: ENST00000518477.1:c.*387C>T
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430972
  ensembl transcript: ENST00000523732
  gene symbol: DMGDH
  hgvsc: ENST00000523732.1:c.670C>T
  hgvsp: ENSP00000430972.1:p.His224Tyr
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000428995
  ensembl transcript: ENST00000517853
  gene symbol: DMGDH
  hgvsc: ENST00000517853.1:c.277-8915C>T
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000255189
  ensembl transcript: ENST00000255189
  gene symbol: DMGDH
  hgvsc: ENST00000255189.3:c.1153C>T
  hgvsp: ENSP00000255189.3:p.His385Tyr
  variant of: http://identifiers.org/hgnc/24475
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33716
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11779
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4993
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33624
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3273
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2139
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7190
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
hgvs: p.His385Tyr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/5-78338157-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78338157
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78338157
    reference: chr 5
allele count: 1
allele frequency: 8.244838730954422e-6
allele num: 121288
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000255189
  ensembl transcript: ENST00000255189
  gene symbol: DMGDH
  hgvsc: ENST00000255189.3:c.1142T>G
  hgvsp: ENSP00000255189.3:p.Met381Arg
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000439478
  ensembl transcript: ENST00000540686
  gene symbol: DMGDH
  hgvsc: ENST00000540686.1:c.54-8926T>G
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000428995
  ensembl transcript: ENST00000517853
  gene symbol: DMGDH
  hgvsc: ENST00000517853.1:c.277-8926T>G
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000369667
  ensembl transcript: ENST00000380311
  gene symbol: DMGDH
  hgvsc: ENST00000380311.4:c.539T>G
  hgvsp: ENSP00000369667.4:p.Met180Arg
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430972
  ensembl transcript: ENST00000523732
  gene symbol: DMGDH
  hgvsc: ENST00000523732.1:c.659T>G
  hgvsp: ENSP00000430972.1:p.Met220Arg
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000427834
  ensembl transcript: ENST00000518477
  gene symbol: DMGDH
  hgvsc: ENST00000518477.1:c.*376T>G
  variant of: http://identifiers.org/hgnc/24475
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5018
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33663
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11839
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7206
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33630
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 5
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2649
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1001
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Met381Arg
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum

5-78338161-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78338161
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78338161
    reference: chr 5
allele count: 1
allele frequency: 8.243751236562685e-6
allele num: 121304
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000427834
  ensembl transcript: ENST00000518477
  gene symbol: DMGDH
  hgvsc: ENST00000518477.1:c.*372C>T
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000255189
  ensembl transcript: ENST00000255189
  gene symbol: DMGDH
  hgvsc: ENST00000255189.3:c.1138C>T
  hgvsp: ENSP00000255189.3:p.Pro380Ser
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000369667
  ensembl transcript: ENST00000380311
  gene symbol: DMGDH
  hgvsc: ENST00000380311.4:c.535C>T
  hgvsp: ENSP00000369667.4:p.Pro179Ser
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000428995
  ensembl transcript: ENST00000517853
  gene symbol: DMGDH
  hgvsc: ENST00000517853.1:c.277-8930C>T
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430972
  ensembl transcript: ENST00000523732
  gene symbol: DMGDH
  hgvsc: ENST00000523732.1:c.655C>T
  hgvsp: ENSP00000430972.1:p.Pro219Ser
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000439478
  ensembl transcript: ENST00000540686
  gene symbol: DMGDH
  hgvsc: ENST00000540686.1:c.54-8930C>T
  variant of: http://identifiers.org/hgnc/24475
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11847
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2197
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33664
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5020
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33643
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7208
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro380Ser
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum

5-78338167-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78338167
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78338167
    reference: chr 5
allele count: 4
allele frequency: 3.297065611605671e-5
allele num: 121320
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000255189
  ensembl transcript: ENST00000255189
  gene symbol: DMGDH
  hgvsc: ENST00000255189.3:c.1132A>G
  hgvsp: ENSP00000255189.3:p.Ile378Val
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000369667
  ensembl transcript: ENST00000380311
  gene symbol: DMGDH
  hgvsc: ENST00000380311.4:c.529A>G
  hgvsp: ENSP00000369667.4:p.Ile177Val
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430972
  ensembl transcript: ENST00000523732
  gene symbol: DMGDH
  hgvsc: ENST00000523732.1:c.649A>G
  hgvsp: ENSP00000430972.1:p.Ile217Val
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000427834
  ensembl transcript: ENST00000518477
  gene symbol: DMGDH
  hgvsc: ENST00000518477.1:c.*366A>G
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000428995
  ensembl transcript: ENST00000517853
  gene symbol: DMGDH
  hgvsc: ENST00000517853.1:c.277-8936A>G
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000439478
  ensembl transcript: ENST00000540686
  gene symbol: DMGDH
  hgvsc: ENST00000540686.1:c.54-8936A>G
  variant of: http://identifiers.org/hgnc/24475
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5019
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33654
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11861
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2199
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33662
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9404
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1002
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ile378Val
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD

5-78338172-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78338172
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78338172
    reference: chr 5
allele count: 1
allele frequency: 8.24279991427488e-6
allele num: 121318
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430972
  ensembl transcript: ENST00000523732
  gene symbol: DMGDH
  hgvsc: ENST00000523732.1:c.644C>G
  hgvsp: ENSP00000430972.1:p.Pro215Arg
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000369667
  ensembl transcript: ENST00000380311
  gene symbol: DMGDH
  hgvsc: ENST00000380311.4:c.524C>G
  hgvsp: ENSP00000369667.4:p.Pro175Arg
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000255189
  ensembl transcript: ENST00000255189
  gene symbol: DMGDH
  hgvsc: ENST00000255189.3:c.1127C>G
  hgvsp: ENSP00000255189.3:p.Pro376Arg
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000427834
  ensembl transcript: ENST00000518477
  gene symbol: DMGDH
  hgvsc: ENST00000518477.1:c.*361C>G
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000439478
  ensembl transcript: ENST00000540686
  gene symbol: DMGDH
  hgvsc: ENST00000540686.1:c.54-8941C>G
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000428995
  ensembl transcript: ENST00000517853
  gene symbol: DMGDH
  hgvsc: ENST00000517853.1:c.277-8941C>G
  variant of: http://identifiers.org/hgnc/24475
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33643
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11860
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5027
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2203
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7204
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3273
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1247
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2139
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro376Arg
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

5-78338180-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78338180
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78338180
    reference: chr 5
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000255189
  ensembl transcript: ENST00000255189
  gene symbol: DMGDH
  hgvsc: ENST00000255189.3:c.1119G>A
  hgvsp: ENST00000255189.3:c.1119G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000369667
  ensembl transcript: ENST00000380311
  gene symbol: DMGDH
  hgvsc: ENST00000380311.4:c.516G>A
  hgvsp: ENST00000380311.4:c.516G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430972
  ensembl transcript: ENST00000523732
  gene symbol: DMGDH
  hgvsc: ENST00000523732.1:c.636G>A
  hgvsp: ENST00000523732.1:c.636G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000428995
  ensembl transcript: ENST00000517853
  gene symbol: DMGDH
  hgvsc: ENST00000517853.1:c.277-8949G>A
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000427834
  ensembl transcript: ENST00000518477
  gene symbol: DMGDH
  hgvsc: ENST00000518477.1:c.*353G>A
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000439478
  ensembl transcript: ENST00000540686
  gene symbol: DMGDH
  hgvsc: ENST00000540686.1:c.54-8949G>A
  variant of: http://identifiers.org/hgnc/24475
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2205
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33631
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11875
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5039
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1001
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2645
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr373Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

5-78338181-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78338181
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78338181
    reference: chr 5
allele count: 5
allele frequency: 4.120856478810556e-5
allele num: 121334
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000369667
  ensembl transcript: ENST00000380311
  gene symbol: DMGDH
  hgvsc: ENST00000380311.4:c.515C>T
  hgvsp: ENSP00000369667.4:p.Thr172Met
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000255189
  ensembl transcript: ENST00000255189
  gene symbol: DMGDH
  hgvsc: ENST00000255189.3:c.1118C>T
  hgvsp: ENSP00000255189.3:p.Thr373Met
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000427834
  ensembl transcript: ENST00000518477
  gene symbol: DMGDH
  hgvsc: ENST00000518477.1:c.*352C>T
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430972
  ensembl transcript: ENST00000523732
  gene symbol: DMGDH
  hgvsc: ENST00000523732.1:c.635C>T
  hgvsp: ENSP00000430972.1:p.Thr212Met
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000439478
  ensembl transcript: ENST00000540686
  gene symbol: DMGDH
  hgvsc: ENST00000540686.1:c.54-8950C>T
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000428995
  ensembl transcript: ENST00000517853
  gene symbol: DMGDH
  hgvsc: ENST00000517853.1:c.277-8950C>T
  variant of: http://identifiers.org/hgnc/24475
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2206
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11880
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33628
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5036
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7205
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3274
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr373Met
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

5-78338201-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78338201
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78338201
    reference: chr 5
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430972
  ensembl transcript: ENST00000523732
  gene symbol: DMGDH
  hgvsc: ENST00000523732.1:c.615T>C
  hgvsp: ENST00000523732.1:c.615T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000369667
  ensembl transcript: ENST00000380311
  gene symbol: DMGDH
  hgvsc: ENST00000380311.4:c.495T>C
  hgvsp: ENST00000380311.4:c.495T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000255189
  ensembl transcript: ENST00000255189
  gene symbol: DMGDH
  hgvsc: ENST00000255189.3:c.1098T>C
  hgvsp: ENST00000255189.3:c.1098T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000427834
  ensembl transcript: ENST00000518477
  gene symbol: DMGDH
  hgvsc: ENST00000518477.1:c.*332T>C
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000439478
  ensembl transcript: ENST00000540686
  gene symbol: DMGDH
  hgvsc: ENST00000540686.1:c.54-8970T>C
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000428995
  ensembl transcript: ENST00000517853
  gene symbol: DMGDH
  hgvsc: ENST00000517853.1:c.277-8970T>C
  variant of: http://identifiers.org/hgnc/24475
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11906
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5048
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33623
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1247
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9399
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3278
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33725
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asn366Asn
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

5-78338202-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78338202
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78338202
    reference: chr 5
allele count: 1334
allele frequency: 1.09919085051334e-2
allele num: 121362
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000255189
  ensembl transcript: ENST00000255189
  gene symbol: DMGDH
  hgvsc: ENST00000255189.3:c.1097A>G
  hgvsp: ENSP00000255189.3:p.Asn366Ser
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000369667
  ensembl transcript: ENST00000380311
  gene symbol: DMGDH
  hgvsc: ENST00000380311.4:c.494A>G
  hgvsp: ENSP00000369667.4:p.Asn165Ser
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000427834
  ensembl transcript: ENST00000518477
  gene symbol: DMGDH
  hgvsc: ENST00000518477.1:c.*331A>G
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000428995
  ensembl transcript: ENST00000517853
  gene symbol: DMGDH
  hgvsc: ENST00000517853.1:c.277-8971A>G
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430972
  ensembl transcript: ENST00000523732
  gene symbol: DMGDH
  hgvsc: ENST00000523732.1:c.614A>G
  hgvsp: ENSP00000430972.1:p.Asn205Ser
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000439478
  ensembl transcript: ENST00000540686
  gene symbol: DMGDH
  hgvsc: ENST00000540686.1:c.54-8971A>G
  variant of: http://identifiers.org/hgnc/24475
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32872
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 5.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 4.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 4930
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2156
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 6.75e1
  variant carriers: 69
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.75e1
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 11688
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 4.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 6.25e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 5.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 7.25e1
  variant carriers: 97
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.25e1
  variant carriers: 107
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 101
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 89
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 9.75e1
  variant carriers: 600
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2583
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3203
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asn366Ser
num of homozygotes: 13
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

5-78338207-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78338207
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78338207
    reference: chr 5
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000427834
  ensembl transcript: ENST00000518477
  gene symbol: DMGDH
  hgvsc: ENST00000518477.1:c.*326C>A
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000439478
  ensembl transcript: ENST00000540686
  gene symbol: DMGDH
  hgvsc: ENST00000540686.1:c.54-8976C>A
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430972
  ensembl transcript: ENST00000523732
  gene symbol: DMGDH
  hgvsc: ENST00000523732.1:c.609C>A
  hgvsp: ENST00000523732.1:c.609C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000369667
  ensembl transcript: ENST00000380311
  gene symbol: DMGDH
  hgvsc: ENST00000380311.4:c.489C>A
  hgvsp: ENST00000380311.4:c.489C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000255189
  ensembl transcript: ENST00000255189
  gene symbol: DMGDH
  hgvsc: ENST00000255189.3:c.1092C>A
  hgvsp: ENST00000255189.3:c.1092C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000428995
  ensembl transcript: ENST00000517853
  gene symbol: DMGDH
  hgvsc: ENST00000517853.1:c.277-8976C>A
  variant of: http://identifiers.org/hgnc/24475
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32909
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5236
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12004
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2339
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2662
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9617
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ile364Ile
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

5-78338229-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78338229
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78338229
    reference: chr 5
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430972
  ensembl transcript: ENST00000523732
  gene symbol: DMGDH
  hgvsc: ENST00000523732.1:c.587C>T
  hgvsp: ENSP00000430972.1:p.Pro196Leu
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000439478
  ensembl transcript: ENST00000540686
  gene symbol: DMGDH
  hgvsc: ENST00000540686.1:c.54-8998C>T
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000427834
  ensembl transcript: ENST00000518477
  gene symbol: DMGDH
  hgvsc: ENST00000518477.1:c.*304C>T
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000369667
  ensembl transcript: ENST00000380311
  gene symbol: DMGDH
  hgvsc: ENST00000380311.4:c.467C>T
  hgvsp: ENSP00000369667.4:p.Pro156Leu
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000428995
  ensembl transcript: ENST00000517853
  gene symbol: DMGDH
  hgvsc: ENST00000517853.1:c.277-8998C>T
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000255189
  ensembl transcript: ENST00000255189
  gene symbol: DMGDH
  hgvsc: ENST00000255189.3:c.1070C>T
  hgvsp: ENSP00000255189.3:p.Pro357Leu
  variant of: http://identifiers.org/hgnc/24475
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5241
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32900
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12017
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2339
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7232
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2174
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3318
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro357Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

5-78338230-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78338230
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78338230
    reference: chr 5
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430972
  ensembl transcript: ENST00000523732
  gene symbol: DMGDH
  hgvsc: ENST00000523732.1:c.586C>A
  hgvsp: ENSP00000430972.1:p.Pro196Thr
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000439478
  ensembl transcript: ENST00000540686
  gene symbol: DMGDH
  hgvsc: ENST00000540686.1:c.54-8999C>A
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000255189
  ensembl transcript: ENST00000255189
  gene symbol: DMGDH
  hgvsc: ENST00000255189.3:c.1069C>A
  hgvsp: ENSP00000255189.3:p.Pro357Thr
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000427834
  ensembl transcript: ENST00000518477
  gene symbol: DMGDH
  hgvsc: ENST00000518477.1:c.*303C>A
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000369667
  ensembl transcript: ENST00000380311
  gene symbol: DMGDH
  hgvsc: ENST00000380311.4:c.466C>A
  hgvsp: ENSP00000369667.4:p.Pro156Thr
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000428995
  ensembl transcript: ENST00000517853
  gene symbol: DMGDH
  hgvsc: ENST00000517853.1:c.277-8999C>A
  variant of: http://identifiers.org/hgnc/24475
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2340
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32901
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5240
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12016
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9617
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3318
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro357Thr
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

5-78338234-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78338234
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78338234
    reference: chr 5
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000439478
  ensembl transcript: ENST00000540686
  gene symbol: DMGDH
  hgvsc: ENST00000540686.1:c.54-9003G>C
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000369667
  ensembl transcript: ENST00000380311
  gene symbol: DMGDH
  hgvsc: ENST00000380311.4:c.462G>C
  hgvsp: ENSP00000369667.4:p.Met154Ile
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000255189
  ensembl transcript: ENST00000255189
  gene symbol: DMGDH
  hgvsc: ENST00000255189.3:c.1065G>C
  hgvsp: ENSP00000255189.3:p.Met355Ile
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430972
  ensembl transcript: ENST00000523732
  gene symbol: DMGDH
  hgvsc: ENST00000523732.1:c.582G>C
  hgvsp: ENSP00000430972.1:p.Met194Ile
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000428995
  ensembl transcript: ENST00000517853
  gene symbol: DMGDH
  hgvsc: ENST00000517853.1:c.277-9003G>C
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000427834
  ensembl transcript: ENST00000518477
  gene symbol: DMGDH
  hgvsc: ENST00000518477.1:c.*299G>C
  variant of: http://identifiers.org/hgnc/24475
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5240
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12016
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2340
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32900
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33372
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2662
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7229
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Met355Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum

5-78338236-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78338236
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78338236
    reference: chr 5
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000439478
  ensembl transcript: ENST00000540686
  gene symbol: DMGDH
  hgvsc: ENST00000540686.1:c.54-9005A>G
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000255189
  ensembl transcript: ENST00000255189
  gene symbol: DMGDH
  hgvsc: ENST00000255189.3:c.1063A>G
  hgvsp: ENSP00000255189.3:p.Met355Val
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000427834
  ensembl transcript: ENST00000518477
  gene symbol: DMGDH
  hgvsc: ENST00000518477.1:c.*297A>G
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430972
  ensembl transcript: ENST00000523732
  gene symbol: DMGDH
  hgvsc: ENST00000523732.1:c.580A>G
  hgvsp: ENSP00000430972.1:p.Met194Val
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000428995
  ensembl transcript: ENST00000517853
  gene symbol: DMGDH
  hgvsc: ENST00000517853.1:c.277-9005A>G
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000369667
  ensembl transcript: ENST00000380311
  gene symbol: DMGDH
  hgvsc: ENST00000380311.4:c.460A>G
  hgvsp: ENSP00000369667.4:p.Met154Val
  variant of: http://identifiers.org/hgnc/24475
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12020
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32900
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2339
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5238
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2172
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3317
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9617
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Met355Val
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

5-78338242-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78338242
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78338242
    reference: chr 5
allele count: 3
allele frequency: 2.471739775236463e-5
allele num: 121372
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000428995
  ensembl transcript: ENST00000517853
  gene symbol: DMGDH
  hgvsc: ENST00000517853.1:c.277-9011A>G
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000427834
  ensembl transcript: ENST00000518477
  gene symbol: DMGDH
  hgvsc: ENST00000518477.1:c.*291A>G
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000439478
  ensembl transcript: ENST00000540686
  gene symbol: DMGDH
  hgvsc: ENST00000540686.1:c.54-9011A>G
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000369667
  ensembl transcript: ENST00000380311
  gene symbol: DMGDH
  hgvsc: ENST00000380311.4:c.454A>G
  hgvsp: ENSP00000369667.4:p.Met152Val
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430972
  ensembl transcript: ENST00000523732
  gene symbol: DMGDH
  hgvsc: ENST00000523732.1:c.574A>G
  hgvsp: ENSP00000430972.1:p.Met192Val
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000255189
  ensembl transcript: ENST00000255189
  gene symbol: DMGDH
  hgvsc: ENST00000255189.3:c.1057A>G
  hgvsp: ENSP00000255189.3:p.Met353Val
  variant of: http://identifiers.org/hgnc/24475
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2338
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12016
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32897
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5238
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9620
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Met353Val
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

5-78338262-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78338262
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78338262
    reference: chr 5
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000255189
  ensembl transcript: ENST00000255189
  gene symbol: DMGDH
  hgvsc: ENST00000255189.3:c.1037T>C
  hgvsp: ENSP00000255189.3:p.Met346Thr
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430972
  ensembl transcript: ENST00000523732
  gene symbol: DMGDH
  hgvsc: ENST00000523732.1:c.554T>C
  hgvsp: ENSP00000430972.1:p.Met185Thr
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430133
  ensembl transcript: ENST00000521052
  gene symbol: DMGDH
  hgvsc: ENST00000521052.1:c.*335T>C
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000427834
  ensembl transcript: ENST00000518477
  gene symbol: DMGDH
  hgvsc: ENST00000518477.1:c.*271T>C
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000369667
  ensembl transcript: ENST00000380311
  gene symbol: DMGDH
  hgvsc: ENST00000380311.4:c.434T>C
  hgvsp: ENSP00000369667.4:p.Met145Thr
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000439478
  ensembl transcript: ENST00000540686
  gene symbol: DMGDH
  hgvsc: ENST00000540686.1:c.54-9031T>C
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000428995
  ensembl transcript: ENST00000517853
  gene symbol: DMGDH
  hgvsc: ENST00000517853.1:c.277-9031T>C
  variant of: http://identifiers.org/hgnc/24475
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12016
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32893
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5239
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2338
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2171
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2662
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33357
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3317
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Met346Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

5-78338268-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78338268
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78338268
    reference: chr 5
allele count: 3
allele frequency: 2.471902705909495e-5
allele num: 121364
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000428995
  ensembl transcript: ENST00000517853
  gene symbol: DMGDH
  hgvsc: ENST00000517853.1:c.277-9037G>A
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000369667
  ensembl transcript: ENST00000380311
  gene symbol: DMGDH
  hgvsc: ENST00000380311.4:c.428G>A
  hgvsp: ENSP00000369667.4:p.Arg143Gln
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430972
  ensembl transcript: ENST00000523732
  gene symbol: DMGDH
  hgvsc: ENST00000523732.1:c.548G>A
  hgvsp: ENSP00000430972.1:p.Arg183Gln
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000427834
  ensembl transcript: ENST00000518477
  gene symbol: DMGDH
  hgvsc: ENST00000518477.1:c.*265G>A
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000255189
  ensembl transcript: ENST00000255189
  gene symbol: DMGDH
  hgvsc: ENST00000255189.3:c.1031G>A
  hgvsp: ENSP00000255189.3:p.Arg344Gln
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430133
  ensembl transcript: ENST00000521052
  gene symbol: DMGDH
  hgvsc: ENST00000521052.1:c.*329G>A
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000439478
  ensembl transcript: ENST00000540686
  gene symbol: DMGDH
  hgvsc: ENST00000540686.1:c.54-9037G>A
  variant of: http://identifiers.org/hgnc/24475
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5241
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12010
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32888
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2338
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9619
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 33350
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7229
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg344Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

5-78338269-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78338269
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78338269
    reference: chr 5
allele count: 6
allele frequency: 4.943723942455053e-5
allele num: 121366
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000427834
  ensembl transcript: ENST00000518477
  gene symbol: DMGDH
  hgvsc: ENST00000518477.1:c.*264C>G
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000255189
  ensembl transcript: ENST00000255189
  gene symbol: DMGDH
  hgvsc: ENST00000255189.3:c.1030C>G
  hgvsp: ENSP00000255189.3:p.Arg344Gly
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000428995
  ensembl transcript: ENST00000517853
  gene symbol: DMGDH
  hgvsc: ENST00000517853.1:c.277-9038C>G
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000439478
  ensembl transcript: ENST00000540686
  gene symbol: DMGDH
  hgvsc: ENST00000540686.1:c.54-9038C>G
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430133
  ensembl transcript: ENST00000521052
  gene symbol: DMGDH
  hgvsc: ENST00000521052.1:c.*328C>G
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000369667
  ensembl transcript: ENST00000380311
  gene symbol: DMGDH
  hgvsc: ENST00000380311.4:c.427C>G
  hgvsp: ENSP00000369667.4:p.Arg143Gly
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430972
  ensembl transcript: ENST00000523732
  gene symbol: DMGDH
  hgvsc: ENST00000523732.1:c.547C>G
  hgvsp: ENSP00000430972.1:p.Arg183Gly
  variant of: http://identifiers.org/hgnc/24475
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2340
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12011
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5239
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32882
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3316
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33346
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2663
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9623
  bin: 9.75e1
  variant carriers: 6
hgvs: p.Arg344Gly
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

5-78338270-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78338270
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78338270
    reference: chr 5
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430972
  ensembl transcript: ENST00000523732
  gene symbol: DMGDH
  hgvsc: ENST00000523732.1:c.546T>A
  hgvsp: ENSP00000430972.1:p.Asp182Glu
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000427834
  ensembl transcript: ENST00000518477
  gene symbol: DMGDH
  hgvsc: ENST00000518477.1:c.*263T>A
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000369667
  ensembl transcript: ENST00000380311
  gene symbol: DMGDH
  hgvsc: ENST00000380311.4:c.426T>A
  hgvsp: ENSP00000369667.4:p.Asp142Glu
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000255189
  ensembl transcript: ENST00000255189
  gene symbol: DMGDH
  hgvsc: ENST00000255189.3:c.1029T>A
  hgvsp: ENSP00000255189.3:p.Asp343Glu
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430133
  ensembl transcript: ENST00000521052
  gene symbol: DMGDH
  hgvsc: ENST00000521052.1:c.*327T>A
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000439478
  ensembl transcript: ENST00000540686
  gene symbol: DMGDH
  hgvsc: ENST00000540686.1:c.54-9039T>A
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000428995
  ensembl transcript: ENST00000517853
  gene symbol: DMGDH
  hgvsc: ENST00000517853.1:c.277-9039T>A
  variant of: http://identifiers.org/hgnc/24475
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2340
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12011
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32884
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5241
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1010
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7230
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp343Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum

5-78338273-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78338273
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78338273
    reference: chr 5
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000255189
  ensembl transcript: ENST00000255189
  gene symbol: DMGDH
  hgvsc: ENST00000255189.3:c.1026A>G
  hgvsp: ENST00000255189.3:c.1026A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000428995
  ensembl transcript: ENST00000517853
  gene symbol: DMGDH
  hgvsc: ENST00000517853.1:c.277-9042A>G
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000427834
  ensembl transcript: ENST00000518477
  gene symbol: DMGDH
  hgvsc: ENST00000518477.1:c.*260A>G
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430133
  ensembl transcript: ENST00000521052
  gene symbol: DMGDH
  hgvsc: ENST00000521052.1:c.*324A>G
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000439478
  ensembl transcript: ENST00000540686
  gene symbol: DMGDH
  hgvsc: ENST00000540686.1:c.54-9042A>G
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000369667
  ensembl transcript: ENST00000380311
  gene symbol: DMGDH
  hgvsc: ENST00000380311.4:c.423A>G
  hgvsp: ENST00000380311.4:c.423A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430972
  ensembl transcript: ENST00000523732
  gene symbol: DMGDH
  hgvsc: ENST00000523732.1:c.543A>G
  hgvsp: ENST00000523732.1:c.543A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24475
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32879
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5240
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12009
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2340
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7227
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33339
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2665
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2168
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1010
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu342Leu
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: T
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

5-78338282-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78338282
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78338282
    reference: chr 5
allele count: 4
allele frequency: 3.296576505299247e-5
allele num: 121338
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000428995
  ensembl transcript: ENST00000517853
  gene symbol: DMGDH
  hgvsc: ENST00000517853.1:c.277-9051G>A
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000255189
  ensembl transcript: ENST00000255189
  gene symbol: DMGDH
  hgvsc: ENST00000255189.3:c.1017G>A
  hgvsp: ENST00000255189.3:c.1017G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000439478
  ensembl transcript: ENST00000540686
  gene symbol: DMGDH
  hgvsc: ENST00000540686.1:c.54-9051G>A
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000369667
  ensembl transcript: ENST00000380311
  gene symbol: DMGDH
  hgvsc: ENST00000380311.4:c.414G>A
  hgvsp: ENST00000380311.4:c.414G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000427834
  ensembl transcript: ENST00000518477
  gene symbol: DMGDH
  hgvsc: ENST00000518477.1:c.*251G>A
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430972
  ensembl transcript: ENST00000523732
  gene symbol: DMGDH
  hgvsc: ENST00000523732.1:c.534G>A
  hgvsp: ENST00000523732.1:c.534G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430133
  ensembl transcript: ENST00000521052
  gene symbol: DMGDH
  hgvsc: ENST00000521052.1:c.*315G>A
  variant of: http://identifiers.org/hgnc/24475
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12008
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5241
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32853
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2339
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9622
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7228
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu339Glu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

5-78338284-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78338284
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78338284
    reference: chr 5
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000369667
  ensembl transcript: ENST00000380311
  gene symbol: DMGDH
  hgvsc: ENST00000380311.4:c.412G>A
  hgvsp: ENSP00000369667.4:p.Glu138Lys
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430972
  ensembl transcript: ENST00000523732
  gene symbol: DMGDH
  hgvsc: ENST00000523732.1:c.532G>A
  hgvsp: ENSP00000430972.1:p.Glu178Lys
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000255189
  ensembl transcript: ENST00000255189
  gene symbol: DMGDH
  hgvsc: ENST00000255189.3:c.1015G>A
  hgvsp: ENSP00000255189.3:p.Glu339Lys
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000428995
  ensembl transcript: ENST00000517853
  gene symbol: DMGDH
  hgvsc: ENST00000517853.1:c.277-9053G>A
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000439478
  ensembl transcript: ENST00000540686
  gene symbol: DMGDH
  hgvsc: ENST00000540686.1:c.54-9053G>A
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430133
  ensembl transcript: ENST00000521052
  gene symbol: DMGDH
  hgvsc: ENST00000521052.1:c.*313G>A
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000427834
  ensembl transcript: ENST00000518477
  gene symbol: DMGDH
  hgvsc: ENST00000518477.1:c.*249G>A
  variant of: http://identifiers.org/hgnc/24475
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12004
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32833
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5242
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3315
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9619
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2663
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33292
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu339Lys
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS

5-78338291-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78338291
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78338291
    reference: chr 5
allele count: 1
allele frequency: 8.244430886935875e-6
allele num: 121294
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000439478
  ensembl transcript: ENST00000540686
  gene symbol: DMGDH
  hgvsc: ENST00000540686.1:c.54-9060A>G
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000427834
  ensembl transcript: ENST00000518477
  gene symbol: DMGDH
  hgvsc: ENST00000518477.1:c.*242A>G
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000255189
  ensembl transcript: ENST00000255189
  gene symbol: DMGDH
  hgvsc: ENST00000255189.3:c.1008A>G
  hgvsp: ENST00000255189.3:c.1008A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000369667
  ensembl transcript: ENST00000380311
  gene symbol: DMGDH
  hgvsc: ENST00000380311.4:c.405A>G
  hgvsp: ENST00000380311.4:c.405A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430972
  ensembl transcript: ENST00000523732
  gene symbol: DMGDH
  hgvsc: ENST00000523732.1:c.525A>G
  hgvsp: ENST00000523732.1:c.525A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000428995
  ensembl transcript: ENST00000517853
  gene symbol: DMGDH
  hgvsc: ENST00000517853.1:c.277-9060A>G
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430133
  ensembl transcript: ENST00000521052
  gene symbol: DMGDH
  hgvsc: ENST00000521052.1:c.*306A>G
  variant of: http://identifiers.org/hgnc/24475
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11994
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5236
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32783
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2168
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3315
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Glu336Glu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

5-78338309-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78338309
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78338309
    reference: chr 5
allele count: 3
allele frequency: 2.47618733182561e-5
allele num: 121154
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000369667
  ensembl transcript: ENST00000380311
  gene symbol: DMGDH
  hgvsc: ENST00000380311.4:c.392-5T>C
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000427834
  ensembl transcript: ENST00000518477
  gene symbol: DMGDH
  hgvsc: ENST00000518477.1:c.*229-5T>C
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000439478
  ensembl transcript: ENST00000540686
  gene symbol: DMGDH
  hgvsc: ENST00000540686.1:c.54-9078T>C
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000255189
  ensembl transcript: ENST00000255189
  gene symbol: DMGDH
  hgvsc: ENST00000255189.3:c.995-5T>C
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430972
  ensembl transcript: ENST00000523732
  gene symbol: DMGDH
  hgvsc: ENST00000523732.1:c.512-5T>C
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430133
  ensembl transcript: ENST00000521052
  gene symbol: DMGDH
  hgvsc: ENST00000521052.1:c.*293-5T>C
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000428995
  ensembl transcript: ENST00000517853
  gene symbol: DMGDH
  hgvsc: ENST00000517853.1:c.277-9078T>C
  variant of: http://identifiers.org/hgnc/24475
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2340
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5227
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32582
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11964
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3313
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33003
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9621
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 8.75e1
  variant carriers: 0
hgvs: c.995-5T>C
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: A
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

5-78338319-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78338319
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78338319
    reference: chr 5
allele count: 1
allele frequency: 8.261185645363822e-6
allele num: 121048
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000427834
  ensembl transcript: ENST00000518477
  gene symbol: DMGDH
  hgvsc: ENST00000518477.1:c.*229-15G>C
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430133
  ensembl transcript: ENST00000521052
  gene symbol: DMGDH
  hgvsc: ENST00000521052.1:c.*293-15G>C
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000255189
  ensembl transcript: ENST00000255189
  gene symbol: DMGDH
  hgvsc: ENST00000255189.3:c.995-15G>C
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000428995
  ensembl transcript: ENST00000517853
  gene symbol: DMGDH
  hgvsc: ENST00000517853.1:c.277-9088G>C
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000369667
  ensembl transcript: ENST00000380311
  gene symbol: DMGDH
  hgvsc: ENST00000380311.4:c.392-15G>C
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430972
  ensembl transcript: ENST00000523732
  gene symbol: DMGDH
  hgvsc: ENST00000523732.1:c.512-15G>C
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000439478
  ensembl transcript: ENST00000540686
  gene symbol: DMGDH
  hgvsc: ENST00000540686.1:c.54-9088G>C
  variant of: http://identifiers.org/hgnc/24475
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32265
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5243
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11956
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1287
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9619
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2648
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32644
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3312
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2166
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum

5-78338330-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78338330
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78338330
    reference: chr 5
allele count: 1
allele frequency: 8.272667107875579e-6
allele num: 120880
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000255189
  ensembl transcript: ENST00000255189
  gene symbol: DMGDH
  hgvsc: ENST00000255189.3:c.995-26C>T
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000369667
  ensembl transcript: ENST00000380311
  gene symbol: DMGDH
  hgvsc: ENST00000380311.4:c.392-26C>T
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000428995
  ensembl transcript: ENST00000517853
  gene symbol: DMGDH
  hgvsc: ENST00000517853.1:c.277-9099C>T
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430972
  ensembl transcript: ENST00000523732
  gene symbol: DMGDH
  hgvsc: ENST00000523732.1:c.512-26C>T
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430133
  ensembl transcript: ENST00000521052
  gene symbol: DMGDH
  hgvsc: ENST00000521052.1:c.*293-26C>T
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000439478
  ensembl transcript: ENST00000540686
  gene symbol: DMGDH
  hgvsc: ENST00000540686.1:c.54-9099C>T
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000427834
  ensembl transcript: ENST00000518477
  gene symbol: DMGDH
  hgvsc: ENST00000518477.1:c.*229-26C>T
  variant of: http://identifiers.org/hgnc/24475
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31301
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11942
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5236
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3305
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2632
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7118
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum

5-78338336-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78338336
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78338336
    reference: chr 5
allele count: 13
allele frequency: 1.076658053402239e-4
allele num: 120744
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000427834
  ensembl transcript: ENST00000518477
  gene symbol: DMGDH
  hgvsc: ENST00000518477.1:c.*229-32G>A
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000255189
  ensembl transcript: ENST00000255189
  gene symbol: DMGDH
  hgvsc: ENST00000255189.3:c.995-32G>A
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000428995
  ensembl transcript: ENST00000517853
  gene symbol: DMGDH
  hgvsc: ENST00000517853.1:c.277-9105G>A
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000369667
  ensembl transcript: ENST00000380311
  gene symbol: DMGDH
  hgvsc: ENST00000380311.4:c.392-32G>A
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000439478
  ensembl transcript: ENST00000540686
  gene symbol: DMGDH
  hgvsc: ENST00000540686.1:c.54-9105G>A
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430133
  ensembl transcript: ENST00000521052
  gene symbol: DMGDH
  hgvsc: ENST00000521052.1:c.*293-32G>A
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430972
  ensembl transcript: ENST00000523732
  gene symbol: DMGDH
  hgvsc: ENST00000523732.1:c.512-32G>A
  variant of: http://identifiers.org/hgnc/24475
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2355
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30215
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11876
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5251
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7037
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3287
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2610
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

5-78338337-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78338337
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78338337
    reference: chr 5
allele count: 20
allele frequency: 1.657302905251993e-4
allele num: 120678
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000439478
  ensembl transcript: ENST00000540686
  gene symbol: DMGDH
  hgvsc: ENST00000540686.1:c.54-9106C>T
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430972
  ensembl transcript: ENST00000523732
  gene symbol: DMGDH
  hgvsc: ENST00000523732.1:c.512-33C>T
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430133
  ensembl transcript: ENST00000521052
  gene symbol: DMGDH
  hgvsc: ENST00000521052.1:c.*293-33C>T
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000428995
  ensembl transcript: ENST00000517853
  gene symbol: DMGDH
  hgvsc: ENST00000517853.1:c.277-9106C>T
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000427834
  ensembl transcript: ENST00000518477
  gene symbol: DMGDH
  hgvsc: ENST00000518477.1:c.*229-33C>T
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000369667
  ensembl transcript: ENST00000380311
  gene symbol: DMGDH
  hgvsc: ENST00000380311.4:c.392-33C>T
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000255189
  ensembl transcript: ENST00000255189
  gene symbol: DMGDH
  hgvsc: ENST00000255189.3:c.995-33C>T
  variant of: http://identifiers.org/hgnc/24475
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29939
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5326
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11966
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2400
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7000
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29961
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP

5-78338338-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78338338
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78338338
    reference: chr 5
allele count: 5
allele frequency: 4.141266896368937e-5
allele num: 120736
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000427834
  ensembl transcript: ENST00000518477
  gene symbol: DMGDH
  hgvsc: ENST00000518477.1:c.*229-34A>G
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430972
  ensembl transcript: ENST00000523732
  gene symbol: DMGDH
  hgvsc: ENST00000523732.1:c.512-34A>G
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000369667
  ensembl transcript: ENST00000380311
  gene symbol: DMGDH
  hgvsc: ENST00000380311.4:c.392-34A>G
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000439478
  ensembl transcript: ENST00000540686
  gene symbol: DMGDH
  hgvsc: ENST00000540686.1:c.54-9107A>G
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000428995
  ensembl transcript: ENST00000517853
  gene symbol: DMGDH
  hgvsc: ENST00000517853.1:c.277-9107A>G
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430133
  ensembl transcript: ENST00000521052
  gene symbol: DMGDH
  hgvsc: ENST00000521052.1:c.*293-34A>G
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000255189
  ensembl transcript: ENST00000255189
  gene symbol: DMGDH
  hgvsc: ENST00000255189.3:c.995-34A>G
  variant of: http://identifiers.org/hgnc/24475
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5238
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29728
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2354
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11986
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9627
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3289
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2170
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1013
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1291
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff

5-78338341-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78338341
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78338341
    reference: chr 5
allele count: 1
allele frequency: 8.285965232089886e-6
allele num: 120686
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000439478
  ensembl transcript: ENST00000540686
  gene symbol: DMGDH
  hgvsc: ENST00000540686.1:c.54-9110G>C
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000255189
  ensembl transcript: ENST00000255189
  gene symbol: DMGDH
  hgvsc: ENST00000255189.3:c.995-37G>C
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000428995
  ensembl transcript: ENST00000517853
  gene symbol: DMGDH
  hgvsc: ENST00000517853.1:c.277-9110G>C
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430972
  ensembl transcript: ENST00000523732
  gene symbol: DMGDH
  hgvsc: ENST00000523732.1:c.512-37G>C
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000427834
  ensembl transcript: ENST00000518477
  gene symbol: DMGDH
  hgvsc: ENST00000518477.1:c.*229-37G>C
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430133
  ensembl transcript: ENST00000521052
  gene symbol: DMGDH
  hgvsc: ENST00000521052.1:c.*293-37G>C
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000369667
  ensembl transcript: ENST00000380311
  gene symbol: DMGDH
  hgvsc: ENST00000380311.4:c.392-37G>C
  variant of: http://identifiers.org/hgnc/24475
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2352
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5241
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29115
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11924
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2459
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7012
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1012
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1291
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

5-78338343-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78338343
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78338343
    reference: chr 5
allele count: 1
allele frequency: 8.288300235387727e-6
allele num: 120652
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430133
  ensembl transcript: ENST00000521052
  gene symbol: DMGDH
  hgvsc: ENST00000521052.1:c.*293-39C>T
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430972
  ensembl transcript: ENST00000523732
  gene symbol: DMGDH
  hgvsc: ENST00000523732.1:c.512-39C>T
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000369667
  ensembl transcript: ENST00000380311
  gene symbol: DMGDH
  hgvsc: ENST00000380311.4:c.392-39C>T
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000439478
  ensembl transcript: ENST00000540686
  gene symbol: DMGDH
  hgvsc: ENST00000540686.1:c.54-9112C>T
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000428995
  ensembl transcript: ENST00000517853
  gene symbol: DMGDH
  hgvsc: ENST00000517853.1:c.277-9112C>T
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000427834
  ensembl transcript: ENST00000518477
  gene symbol: DMGDH
  hgvsc: ENST00000518477.1:c.*229-39C>T
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000255189
  ensembl transcript: ENST00000255189
  gene symbol: DMGDH
  hgvsc: ENST00000255189.3:c.995-39C>T
  variant of: http://identifiers.org/hgnc/24475
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11756
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5198
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3084
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28679
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1186
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3290
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2173
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 970
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2608
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27640
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9626
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6950
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

5-78340078-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78340078
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78340078
    reference: chr 5
allele count: 4
allele frequency: 3.295924589245398e-5
allele num: 121362
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000255189
  ensembl transcript: ENST00000255189
  gene symbol: DMGDH
  hgvsc: ENST00000255189.3:c.994+49T>C
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430972
  ensembl transcript: ENST00000523732
  gene symbol: DMGDH
  hgvsc: ENST00000523732.1:c.511+49T>C
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000428995
  ensembl transcript: ENST00000517853
  gene symbol: DMGDH
  hgvsc: ENST00000517853.1:c.277-10847T>C
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000439478
  ensembl transcript: ENST00000540686
  gene symbol: DMGDH
  hgvsc: ENST00000540686.1:c.54-10847T>C
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000427834
  ensembl transcript: ENST00000518477
  gene symbol: DMGDH
  hgvsc: ENST00000518477.1:c.*228+49T>C
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000369667
  ensembl transcript: ENST00000380311
  gene symbol: DMGDH
  hgvsc: ENST00000380311.4:c.391+49T>C
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430133
  ensembl transcript: ENST00000521052
  gene symbol: DMGDH
  hgvsc: ENST00000521052.1:c.*292+49T>C
  variant of: http://identifiers.org/hgnc/24475
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2028
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3249
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3355
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3182
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3034
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5320
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2418
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1815
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19214
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3068
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1983
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 722
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

5-78340089-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78340089
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78340089
    reference: chr 5
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430972
  ensembl transcript: ENST00000523732
  gene symbol: DMGDH
  hgvsc: ENST00000523732.1:c.511+38T>C
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000369667
  ensembl transcript: ENST00000380311
  gene symbol: DMGDH
  hgvsc: ENST00000380311.4:c.391+38T>C
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000439478
  ensembl transcript: ENST00000540686
  gene symbol: DMGDH
  hgvsc: ENST00000540686.1:c.54-10858T>C
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000427834
  ensembl transcript: ENST00000518477
  gene symbol: DMGDH
  hgvsc: ENST00000518477.1:c.*228+38T>C
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000428995
  ensembl transcript: ENST00000517853
  gene symbol: DMGDH
  hgvsc: ENST00000517853.1:c.277-10858T>C
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430133
  ensembl transcript: ENST00000521052
  gene symbol: DMGDH
  hgvsc: ENST00000521052.1:c.*292+38T>C
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000255189
  ensembl transcript: ENST00000255189
  gene symbol: DMGDH
  hgvsc: ENST00000255189.3:c.994+38T>C
  variant of: http://identifiers.org/hgnc/24475
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2028
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19213
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2970
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3081
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2418
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1896
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3354
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3034
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5332
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6380
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1989
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

5-78340094-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78340094
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78340094
    reference: chr 5
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430972
  ensembl transcript: ENST00000523732
  gene symbol: DMGDH
  hgvsc: ENST00000523732.1:c.511+33A>G
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000369667
  ensembl transcript: ENST00000380311
  gene symbol: DMGDH
  hgvsc: ENST00000380311.4:c.391+33A>G
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000255189
  ensembl transcript: ENST00000255189
  gene symbol: DMGDH
  hgvsc: ENST00000255189.3:c.994+33A>G
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000439478
  ensembl transcript: ENST00000540686
  gene symbol: DMGDH
  hgvsc: ENST00000540686.1:c.54-10863A>G
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000427834
  ensembl transcript: ENST00000518477
  gene symbol: DMGDH
  hgvsc: ENST00000518477.1:c.*228+33A>G
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430133
  ensembl transcript: ENST00000521052
  gene symbol: DMGDH
  hgvsc: ENST00000521052.1:c.*292+33A>G
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000428995
  ensembl transcript: ENST00000517853
  gene symbol: DMGDH
  hgvsc: ENST00000517853.1:c.277-10863A>G
  variant of: http://identifiers.org/hgnc/24475
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2418
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2028
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3085
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3182
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19213
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3035
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2970
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3354
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6403
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1993
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

5-78340098-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78340098
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78340098
    reference: chr 5
allele count: 12
allele frequency: 9.886796183696674e-5
allele num: 121374
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430972
  ensembl transcript: ENST00000523732
  gene symbol: DMGDH
  hgvsc: ENST00000523732.1:c.511+29A>G
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000369667
  ensembl transcript: ENST00000380311
  gene symbol: DMGDH
  hgvsc: ENST00000380311.4:c.391+29A>G
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000255189
  ensembl transcript: ENST00000255189
  gene symbol: DMGDH
  hgvsc: ENST00000255189.3:c.994+29A>G
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430133
  ensembl transcript: ENST00000521052
  gene symbol: DMGDH
  hgvsc: ENST00000521052.1:c.*292+29A>G
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000427834
  ensembl transcript: ENST00000518477
  gene symbol: DMGDH
  hgvsc: ENST00000518477.1:c.*228+29A>G
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000439478
  ensembl transcript: ENST00000540686
  gene symbol: DMGDH
  hgvsc: ENST00000540686.1:c.54-10867A>G
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000428995
  ensembl transcript: ENST00000517853
  gene symbol: DMGDH
  hgvsc: ENST00000517853.1:c.277-10867A>G
  variant of: http://identifiers.org/hgnc/24475
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5355
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2720
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19213
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3247
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3092
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2028
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1922
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3354
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2417
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3182
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3034
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2970
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3293
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1999
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6424
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

5-78340101-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78340101
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78340101
    reference: chr 5
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430972
  ensembl transcript: ENST00000523732
  gene symbol: DMGDH
  hgvsc: ENST00000523732.1:c.511+26G>A
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000255189
  ensembl transcript: ENST00000255189
  gene symbol: DMGDH
  hgvsc: ENST00000255189.3:c.994+26G>A
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000439478
  ensembl transcript: ENST00000540686
  gene symbol: DMGDH
  hgvsc: ENST00000540686.1:c.54-10870G>A
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000427834
  ensembl transcript: ENST00000518477
  gene symbol: DMGDH
  hgvsc: ENST00000518477.1:c.*228+26G>A
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000369667
  ensembl transcript: ENST00000380311
  gene symbol: DMGDH
  hgvsc: ENST00000380311.4:c.391+26G>A
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000428995
  ensembl transcript: ENST00000517853
  gene symbol: DMGDH
  hgvsc: ENST00000517853.1:c.277-10870G>A
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430133
  ensembl transcript: ENST00000521052
  gene symbol: DMGDH
  hgvsc: ENST00000521052.1:c.*292+26G>A
  variant of: http://identifiers.org/hgnc/24475
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3096
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5371
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3034
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3355
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3182
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2417
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19210
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2972
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6421
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

5-78340106-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78340106
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78340106
    reference: chr 5
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000439478
  ensembl transcript: ENST00000540686
  gene symbol: DMGDH
  hgvsc: ENST00000540686.1:c.54-10875T>C
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430133
  ensembl transcript: ENST00000521052
  gene symbol: DMGDH
  hgvsc: ENST00000521052.1:c.*292+21T>C
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000255189
  ensembl transcript: ENST00000255189
  gene symbol: DMGDH
  hgvsc: ENST00000255189.3:c.994+21T>C
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430972
  ensembl transcript: ENST00000523732
  gene symbol: DMGDH
  hgvsc: ENST00000523732.1:c.511+21T>C
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000369667
  ensembl transcript: ENST00000380311
  gene symbol: DMGDH
  hgvsc: ENST00000380311.4:c.391+21T>C
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000428995
  ensembl transcript: ENST00000517853
  gene symbol: DMGDH
  hgvsc: ENST00000517853.1:c.277-10875T>C
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000427834
  ensembl transcript: ENST00000518477
  gene symbol: DMGDH
  hgvsc: ENST00000518477.1:c.*228+21T>C
  variant of: http://identifiers.org/hgnc/24475
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19210
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2972
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5372
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3355
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3034
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2417
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3182
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 981
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48718
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/5-78340107-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78340107
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78340107
    reference: chr 5
allele count: 4
allele frequency: 3.295327225993541e-5
allele num: 121384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430972
  ensembl transcript: ENST00000523732
  gene symbol: DMGDH
  hgvsc: ENST00000523732.1:c.511+20G>T
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000427834
  ensembl transcript: ENST00000518477
  gene symbol: DMGDH
  hgvsc: ENST00000518477.1:c.*228+20G>T
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000439478
  ensembl transcript: ENST00000540686
  gene symbol: DMGDH
  hgvsc: ENST00000540686.1:c.54-10876G>T
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000369667
  ensembl transcript: ENST00000380311
  gene symbol: DMGDH
  hgvsc: ENST00000380311.4:c.391+20G>T
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000428995
  ensembl transcript: ENST00000517853
  gene symbol: DMGDH
  hgvsc: ENST00000517853.1:c.277-10876G>T
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430133
  ensembl transcript: ENST00000521052
  gene symbol: DMGDH
  hgvsc: ENST00000521052.1:c.*292+20G>T
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000255189
  ensembl transcript: ENST00000255189
  gene symbol: DMGDH
  hgvsc: ENST00000255189.3:c.994+20G>T
  variant of: http://identifiers.org/hgnc/24475
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3182
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3355
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5377
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1936
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3098
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2974
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3249
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3033
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19211
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2028
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6455
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 981
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2002
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

5-78340126-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78340126
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78340126
    reference: chr 5
allele count: 2
allele frequency: 1.647473599235572e-5
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430972
  ensembl transcript: ENST00000523732
  gene symbol: DMGDH
  hgvsc: ENST00000523732.1:c.511+1G>A
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000255189
  ensembl transcript: ENST00000255189
  gene symbol: DMGDH
  hgvsc: ENST00000255189.3:c.994+1G>A
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000428995
  ensembl transcript: ENST00000517853
  gene symbol: DMGDH
  hgvsc: ENST00000517853.1:c.277-10895G>A
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000439478
  ensembl transcript: ENST00000540686
  gene symbol: DMGDH
  hgvsc: ENST00000540686.1:c.54-10895G>A
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000369667
  ensembl transcript: ENST00000380311
  gene symbol: DMGDH
  hgvsc: ENST00000380311.4:c.391+1G>A
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430133
  ensembl transcript: ENST00000521052
  gene symbol: DMGDH
  hgvsc: ENST00000521052.1:c.*292+1G>A
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000427834
  ensembl transcript: ENST00000518477
  gene symbol: DMGDH
  hgvsc: ENST00000518477.1:c.*228+1G>A
  variant of: http://identifiers.org/hgnc/24475
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19211
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3182
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5403
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3106
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3034
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2972
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3355
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2028
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2008
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
hgvs: c.994+1G>A
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD

5-78340130-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78340130
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78340130
    reference: chr 5
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000427834
  ensembl transcript: ENST00000518477
  gene symbol: DMGDH
  hgvsc: ENST00000518477.1:c.*225C>T
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000428995
  ensembl transcript: ENST00000517853
  gene symbol: DMGDH
  hgvsc: ENST00000517853.1:c.277-10899C>T
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000255189
  ensembl transcript: ENST00000255189
  gene symbol: DMGDH
  hgvsc: ENST00000255189.3:c.991C>T
  hgvsp: ENSP00000255189.3:p.Pro331Ser
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000439478
  ensembl transcript: ENST00000540686
  gene symbol: DMGDH
  hgvsc: ENST00000540686.1:c.54-10899C>T
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000369667
  ensembl transcript: ENST00000380311
  gene symbol: DMGDH
  hgvsc: ENST00000380311.4:c.388C>T
  hgvsp: ENSP00000369667.4:p.Pro130Ser
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430972
  ensembl transcript: ENST00000523732
  gene symbol: DMGDH
  hgvsc: ENST00000523732.1:c.508C>T
  hgvsp: ENSP00000430972.1:p.Pro170Ser
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430133
  ensembl transcript: ENST00000521052
  gene symbol: DMGDH
  hgvsc: ENST00000521052.1:c.*289C>T
  variant of: http://identifiers.org/hgnc/24475
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2972
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19210
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5409
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3355
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2028
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3182
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3107
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3249
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3034
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2007
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro331Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

5-78340136-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78340136
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78340136
    reference: chr 5
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000369667
  ensembl transcript: ENST00000380311
  gene symbol: DMGDH
  hgvsc: ENST00000380311.4:c.382G>C
  hgvsp: ENSP00000369667.4:p.Val128Leu
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000428995
  ensembl transcript: ENST00000517853
  gene symbol: DMGDH
  hgvsc: ENST00000517853.1:c.277-10905G>C
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430133
  ensembl transcript: ENST00000521052
  gene symbol: DMGDH
  hgvsc: ENST00000521052.1:c.*283G>C
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000439478
  ensembl transcript: ENST00000540686
  gene symbol: DMGDH
  hgvsc: ENST00000540686.1:c.54-10905G>C
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430972
  ensembl transcript: ENST00000523732
  gene symbol: DMGDH
  hgvsc: ENST00000523732.1:c.502G>C
  hgvsp: ENSP00000430972.1:p.Val168Leu
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000427834
  ensembl transcript: ENST00000518477
  gene symbol: DMGDH
  hgvsc: ENST00000518477.1:c.*219G>C
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000255189
  ensembl transcript: ENST00000255189
  gene symbol: DMGDH
  hgvsc: ENST00000255189.3:c.985G>C
  hgvsp: ENSP00000255189.3:p.Val329Leu
  variant of: http://identifiers.org/hgnc/24475
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5414
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3106
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3249
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3034
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3355
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3182
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2028
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2972
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19210
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6499
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val329Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP

5-78340141-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78340141
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78340141
    reference: chr 5
allele count: 12
allele frequency: 9.884515905833511e-5
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000428995
  ensembl transcript: ENST00000517853
  gene symbol: DMGDH
  hgvsc: ENST00000517853.1:c.277-10910A>G
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430972
  ensembl transcript: ENST00000523732
  gene symbol: DMGDH
  hgvsc: ENST00000523732.1:c.497A>G
  hgvsp: ENSP00000430972.1:p.Asn166Ser
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000439478
  ensembl transcript: ENST00000540686
  gene symbol: DMGDH
  hgvsc: ENST00000540686.1:c.54-10910A>G
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000427834
  ensembl transcript: ENST00000518477
  gene symbol: DMGDH
  hgvsc: ENST00000518477.1:c.*214A>G
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430133
  ensembl transcript: ENST00000521052
  gene symbol: DMGDH
  hgvsc: ENST00000521052.1:c.*278A>G
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000255189
  ensembl transcript: ENST00000255189
  gene symbol: DMGDH
  hgvsc: ENST00000255189.3:c.980A>G
  hgvsp: ENSP00000255189.3:p.Asn327Ser
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000369667
  ensembl transcript: ENST00000380311
  gene symbol: DMGDH
  hgvsc: ENST00000380311.4:c.377A>G
  hgvsp: ENSP00000369667.4:p.Asn126Ser
  variant of: http://identifiers.org/hgnc/24475
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19211
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5413
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3292
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3354
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2028
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3035
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2415
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2972
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3105
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6497
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asn327Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

5-78340146-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78340146
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78340146
    reference: chr 5
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000428995
  ensembl transcript: ENST00000517853
  gene symbol: DMGDH
  hgvsc: ENST00000517853.1:c.277-10915C>G
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000427834
  ensembl transcript: ENST00000518477
  gene symbol: DMGDH
  hgvsc: ENST00000518477.1:c.*209C>G
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430972
  ensembl transcript: ENST00000523732
  gene symbol: DMGDH
  hgvsc: ENST00000523732.1:c.492C>G
  hgvsp: ENST00000523732.1:c.492C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000369667
  ensembl transcript: ENST00000380311
  gene symbol: DMGDH
  hgvsc: ENST00000380311.4:c.372C>G
  hgvsp: ENST00000380311.4:c.372C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430133
  ensembl transcript: ENST00000521052
  gene symbol: DMGDH
  hgvsc: ENST00000521052.1:c.*273C>G
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000255189
  ensembl transcript: ENST00000255189
  gene symbol: DMGDH
  hgvsc: ENST00000255189.3:c.975C>G
  hgvsp: ENST00000255189.3:c.975C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000439478
  ensembl transcript: ENST00000540686
  gene symbol: DMGDH
  hgvsc: ENST00000540686.1:c.54-10915C>G
  variant of: http://identifiers.org/hgnc/24475
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2028
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3035
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3354
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5414
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3292
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3182
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19204
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2972
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3107
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3250
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48711
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 994
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val325Val
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/5-78340147-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78340147
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78340147
    reference: chr 5
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430972
  ensembl transcript: ENST00000523732
  gene symbol: DMGDH
  hgvsc: ENST00000523732.1:c.491T>G
  hgvsp: ENSP00000430972.1:p.Val164Gly
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000427834
  ensembl transcript: ENST00000518477
  gene symbol: DMGDH
  hgvsc: ENST00000518477.1:c.*208T>G
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000255189
  ensembl transcript: ENST00000255189
  gene symbol: DMGDH
  hgvsc: ENST00000255189.3:c.974T>G
  hgvsp: ENSP00000255189.3:p.Val325Gly
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000369667
  ensembl transcript: ENST00000380311
  gene symbol: DMGDH
  hgvsc: ENST00000380311.4:c.371T>G
  hgvsp: ENSP00000369667.4:p.Val124Gly
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430133
  ensembl transcript: ENST00000521052
  gene symbol: DMGDH
  hgvsc: ENST00000521052.1:c.*272T>G
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000428995
  ensembl transcript: ENST00000517853
  gene symbol: DMGDH
  hgvsc: ENST00000517853.1:c.277-10916T>G
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000439478
  ensembl transcript: ENST00000540686
  gene symbol: DMGDH
  hgvsc: ENST00000540686.1:c.54-10916T>G
  variant of: http://identifiers.org/hgnc/24475
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3354
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3108
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3249
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2719
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2028
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19204
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3292
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5414
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3035
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3182
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2972
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6494
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48711
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val325Gly
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum

5-78340149-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78340149
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78340149
    reference: chr 5
allele count: 198
allele frequency: 1.630971993410214e-3
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000439478
  ensembl transcript: ENST00000540686
  gene symbol: DMGDH
  hgvsc: ENST00000540686.1:c.54-10918G>A
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430972
  ensembl transcript: ENST00000523732
  gene symbol: DMGDH
  hgvsc: ENST00000523732.1:c.489G>A
  hgvsp: ENSP00000430972.1:p.Trp163Ter
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000255189
  ensembl transcript: ENST00000255189
  gene symbol: DMGDH
  hgvsc: ENST00000255189.3:c.972G>A
  hgvsp: ENSP00000255189.3:p.Trp324Ter
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000369667
  ensembl transcript: ENST00000380311
  gene symbol: DMGDH
  hgvsc: ENST00000380311.4:c.369G>A
  hgvsp: ENSP00000369667.4:p.Trp123Ter
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000427834
  ensembl transcript: ENST00000518477
  gene symbol: DMGDH
  hgvsc: ENST00000518477.1:c.*206G>A
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430133
  ensembl transcript: ENST00000521052
  gene symbol: DMGDH
  hgvsc: ENST00000521052.1:c.*270G>A
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000428995
  ensembl transcript: ENST00000517853
  gene symbol: DMGDH
  hgvsc: ENST00000517853.1:c.277-10918G>A
  variant of: http://identifiers.org/hgnc/24475
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3355
  bin: 7.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2415
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2026
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3292
  bin: 9.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3035
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5408
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19217
  bin: 9.75e1
  variant carriers: 139
genotype depth: GenotypeDepth
  all individuals: 3184
  bin: 8.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 3253
  bin: 8.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 3110
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6495
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Trp324Ter
num of homozygotes: 2
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

5-78340153-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78340153
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78340153
    reference: chr 5
allele count: 2
allele frequency: 1.647527884409444e-5
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000439478
  ensembl transcript: ENST00000540686
  gene symbol: DMGDH
  hgvsc: ENST00000540686.1:c.54-10922C>T
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000369667
  ensembl transcript: ENST00000380311
  gene symbol: DMGDH
  hgvsc: ENST00000380311.4:c.365C>T
  hgvsp: ENSP00000369667.4:p.Ser122Phe
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430133
  ensembl transcript: ENST00000521052
  gene symbol: DMGDH
  hgvsc: ENST00000521052.1:c.*266C>T
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000255189
  ensembl transcript: ENST00000255189
  gene symbol: DMGDH
  hgvsc: ENST00000255189.3:c.968C>T
  hgvsp: ENSP00000255189.3:p.Ser323Phe
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000428995
  ensembl transcript: ENST00000517853
  gene symbol: DMGDH
  hgvsc: ENST00000517853.1:c.277-10922C>T
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000427834
  ensembl transcript: ENST00000518477
  gene symbol: DMGDH
  hgvsc: ENST00000518477.1:c.*202C>T
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430972
  ensembl transcript: ENST00000523732
  gene symbol: DMGDH
  hgvsc: ENST00000523732.1:c.485C>T
  hgvsp: ENSP00000430972.1:p.Ser162Phe
  variant of: http://identifiers.org/hgnc/24475
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2982
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3182
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3136
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2720
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2423
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5444
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2032
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19110
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3290
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3353
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3038
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2020
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48636
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser323Phe
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

5-78340167-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78340167
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78340167
    reference: chr 5
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000255189
  ensembl transcript: ENST00000255189
  gene symbol: DMGDH
  hgvsc: ENST00000255189.3:c.954G>A
  hgvsp: ENSP00000255189.3:p.Met318Ile
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000427834
  ensembl transcript: ENST00000518477
  gene symbol: DMGDH
  hgvsc: ENST00000518477.1:c.*188G>A
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000369667
  ensembl transcript: ENST00000380311
  gene symbol: DMGDH
  hgvsc: ENST00000380311.4:c.351G>A
  hgvsp: ENSP00000369667.4:p.Met117Ile
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000439478
  ensembl transcript: ENST00000540686
  gene symbol: DMGDH
  hgvsc: ENST00000540686.1:c.54-10936G>A
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430972
  ensembl transcript: ENST00000523732
  gene symbol: DMGDH
  hgvsc: ENST00000523732.1:c.471G>A
  hgvsp: ENSP00000430972.1:p.Met157Ile
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430133
  ensembl transcript: ENST00000521052
  gene symbol: DMGDH
  hgvsc: ENST00000521052.1:c.*252G>A
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000428995
  ensembl transcript: ENST00000517853
  gene symbol: DMGDH
  hgvsc: ENST00000517853.1:c.277-10936G>A
  variant of: http://identifiers.org/hgnc/24475
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2423
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3290
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3133
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5441
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3353
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1964
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19109
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3038
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2720
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3182
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2982
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3248
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48635
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Met318Ile
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/5-78340185-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78340185
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78340185
    reference: chr 5
allele count: 3
allele frequency: 2.471576866040534e-5
allele num: 121380
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430133
  ensembl transcript: ENST00000521052
  gene symbol: DMGDH
  hgvsc: ENST00000521052.1:c.*234T>G
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430972
  ensembl transcript: ENST00000523732
  gene symbol: DMGDH
  hgvsc: ENST00000523732.1:c.453T>G
  hgvsp: ENSP00000430972.1:p.Tyr151Ter
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000439478
  ensembl transcript: ENST00000540686
  gene symbol: DMGDH
  hgvsc: ENST00000540686.1:c.54-10954T>G
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000255189
  ensembl transcript: ENST00000255189
  gene symbol: DMGDH
  hgvsc: ENST00000255189.3:c.936T>G
  hgvsp: ENSP00000255189.3:p.Tyr312Ter
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000427834
  ensembl transcript: ENST00000518477
  gene symbol: DMGDH
  hgvsc: ENST00000518477.1:c.*170T>G
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000369667
  ensembl transcript: ENST00000380311
  gene symbol: DMGDH
  hgvsc: ENST00000380311.4:c.333T>G
  hgvsp: ENSP00000369667.4:p.Tyr111Ter
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000428995
  ensembl transcript: ENST00000517853
  gene symbol: DMGDH
  hgvsc: ENST00000517853.1:c.277-10954T>G
  variant of: http://identifiers.org/hgnc/24475
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3354
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2423
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3038
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3182
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5448
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3129
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2720
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3290
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19108
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2982
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48635
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 6541
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Tyr312Ter
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ

5-78340203-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78340203
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78340203
    reference: chr 5
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430972
  ensembl transcript: ENST00000523732
  gene symbol: DMGDH
  hgvsc: ENST00000523732.1:c.435G>A
  hgvsp: ENST00000523732.1:c.435G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000428995
  ensembl transcript: ENST00000517853
  gene symbol: DMGDH
  hgvsc: ENST00000517853.1:c.277-10972G>A
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000427834
  ensembl transcript: ENST00000518477
  gene symbol: DMGDH
  hgvsc: ENST00000518477.1:c.*152G>A
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000255189
  ensembl transcript: ENST00000255189
  gene symbol: DMGDH
  hgvsc: ENST00000255189.3:c.918G>A
  hgvsp: ENST00000255189.3:c.918G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000369667
  ensembl transcript: ENST00000380311
  gene symbol: DMGDH
  hgvsc: ENST00000380311.4:c.315G>A
  hgvsp: ENST00000380311.4:c.315G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430133
  ensembl transcript: ENST00000521052
  gene symbol: DMGDH
  hgvsc: ENST00000521052.1:c.*216G>A
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000439478
  ensembl transcript: ENST00000540686
  gene symbol: DMGDH
  hgvsc: ENST00000540686.1:c.54-10972G>A
  variant of: http://identifiers.org/hgnc/24475
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3039
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2720
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2423
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3131
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5454
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3354
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3182
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3290
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19107
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2982
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48634
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly306Gly
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

5-78340216-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78340216
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78340216
    reference: chr 5
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000428995
  ensembl transcript: ENST00000517853
  gene symbol: DMGDH
  hgvsc: ENST00000517853.1:c.277-10985A>G
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000427834
  ensembl transcript: ENST00000518477
  gene symbol: DMGDH
  hgvsc: ENST00000518477.1:c.*139A>G
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430133
  ensembl transcript: ENST00000521052
  gene symbol: DMGDH
  hgvsc: ENST00000521052.1:c.*203A>G
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000439478
  ensembl transcript: ENST00000540686
  gene symbol: DMGDH
  hgvsc: ENST00000540686.1:c.54-10985A>G
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000255189
  ensembl transcript: ENST00000255189
  gene symbol: DMGDH
  hgvsc: ENST00000255189.3:c.905A>G
  hgvsp: ENSP00000255189.3:p.Gln302Arg
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000369667
  ensembl transcript: ENST00000380311
  gene symbol: DMGDH
  hgvsc: ENST00000380311.4:c.302A>G
  hgvsp: ENSP00000369667.4:p.Gln101Arg
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430972
  ensembl transcript: ENST00000523732
  gene symbol: DMGDH
  hgvsc: ENST00000523732.1:c.422A>G
  hgvsp: ENSP00000430972.1:p.Gln141Arg
  variant of: http://identifiers.org/hgnc/24475
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19108
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2721
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3290
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3354
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3129
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2981
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3038
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5456
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2423
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3182
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2021
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln302Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD

5-78340219-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78340219
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78340219
    reference: chr 5
allele count: 5
allele frequency: 4.118616144975288e-5
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430972
  ensembl transcript: ENST00000523732
  gene symbol: DMGDH
  hgvsc: ENST00000523732.1:c.419G>A
  hgvsp: ENSP00000430972.1:p.Arg140Gln
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000428995
  ensembl transcript: ENST00000517853
  gene symbol: DMGDH
  hgvsc: ENST00000517853.1:c.277-10988G>A
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000255189
  ensembl transcript: ENST00000255189
  gene symbol: DMGDH
  hgvsc: ENST00000255189.3:c.902G>A
  hgvsp: ENSP00000255189.3:p.Arg301Gln
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000439478
  ensembl transcript: ENST00000540686
  gene symbol: DMGDH
  hgvsc: ENST00000540686.1:c.54-10988G>A
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000369667
  ensembl transcript: ENST00000380311
  gene symbol: DMGDH
  hgvsc: ENST00000380311.4:c.299G>A
  hgvsp: ENSP00000369667.4:p.Arg100Gln
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430133
  ensembl transcript: ENST00000521052
  gene symbol: DMGDH
  hgvsc: ENST00000521052.1:c.*200G>A
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000427834
  ensembl transcript: ENST00000518477
  gene symbol: DMGDH
  hgvsc: ENST00000518477.1:c.*136G>A
  variant of: http://identifiers.org/hgnc/24475
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2423
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3293
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2721
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5456
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3038
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3249
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19108
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3133
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2980
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3352
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg301Gln
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

5-78340220-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78340220
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78340220
    reference: chr 5
allele count: 12
allele frequency: 9.885004448252002e-5
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430972
  ensembl transcript: ENST00000523732
  gene symbol: DMGDH
  hgvsc: ENST00000523732.1:c.418C>T
  hgvsp: ENSP00000430972.1:p.Arg140Ter
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430133
  ensembl transcript: ENST00000521052
  gene symbol: DMGDH
  hgvsc: ENST00000521052.1:c.*199C>T
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000427834
  ensembl transcript: ENST00000518477
  gene symbol: DMGDH
  hgvsc: ENST00000518477.1:c.*135C>T
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000439478
  ensembl transcript: ENST00000540686
  gene symbol: DMGDH
  hgvsc: ENST00000540686.1:c.54-10989C>T
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000369667
  ensembl transcript: ENST00000380311
  gene symbol: DMGDH
  hgvsc: ENST00000380311.4:c.298C>T
  hgvsp: ENSP00000369667.4:p.Arg100Ter
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000255189
  ensembl transcript: ENST00000255189
  gene symbol: DMGDH
  hgvsc: ENST00000255189.3:c.901C>T
  hgvsp: ENSP00000255189.3:p.Arg301Ter
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000428995
  ensembl transcript: ENST00000517853
  gene symbol: DMGDH
  hgvsc: ENST00000517853.1:c.277-10989C>T
  variant of: http://identifiers.org/hgnc/24475
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3180
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2422
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3352
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3133
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2977
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5455
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19109
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3293
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3042
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2721
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3248
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2020
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48633
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg301Ter
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum

5-78340223-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78340223
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78340223
    reference: chr 5
allele count: 531
allele frequency: 4.374042405970445e-3
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430972
  ensembl transcript: ENST00000523732
  gene symbol: DMGDH
  hgvsc: ENST00000523732.1:c.415C>T
  hgvsp: ENSP00000430972.1:p.Leu139Phe
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000427834
  ensembl transcript: ENST00000518477
  gene symbol: DMGDH
  hgvsc: ENST00000518477.1:c.*132C>T
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000439478
  ensembl transcript: ENST00000540686
  gene symbol: DMGDH
  hgvsc: ENST00000540686.1:c.54-10992C>T
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000255189
  ensembl transcript: ENST00000255189
  gene symbol: DMGDH
  hgvsc: ENST00000255189.3:c.898C>T
  hgvsp: ENSP00000255189.3:p.Leu300Phe
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000369667
  ensembl transcript: ENST00000380311
  gene symbol: DMGDH
  hgvsc: ENST00000380311.4:c.295C>T
  hgvsp: ENSP00000369667.4:p.Leu99Phe
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430133
  ensembl transcript: ENST00000521052
  gene symbol: DMGDH
  hgvsc: ENST00000521052.1:c.*196C>T
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000428995
  ensembl transcript: ENST00000517853
  gene symbol: DMGDH
  hgvsc: ENST00000517853.1:c.277-10992C>T
  variant of: http://identifiers.org/hgnc/24475
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3247
  bin: 8.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3125
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5450
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3025
  bin: 7.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19260
  bin: 9.75e1
  variant carriers: 381
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1963
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3337
  bin: 7.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3167
  bin: 8.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 2702
  bin: 6.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2968
  bin: 6.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 2012
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3281
  bin: 9.25e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6540
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu300Phe
num of homozygotes: 7
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

5-78340225-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78340225
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78340225
    reference: chr 5
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000428995
  ensembl transcript: ENST00000517853
  gene symbol: DMGDH
  hgvsc: ENST00000517853.1:c.277-10994A>C
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000255189
  ensembl transcript: ENST00000255189
  gene symbol: DMGDH
  hgvsc: ENST00000255189.3:c.896A>C
  hgvsp: ENSP00000255189.3:p.Tyr299Ser
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430133
  ensembl transcript: ENST00000521052
  gene symbol: DMGDH
  hgvsc: ENST00000521052.1:c.*194A>C
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430972
  ensembl transcript: ENST00000523732
  gene symbol: DMGDH
  hgvsc: ENST00000523732.1:c.413A>C
  hgvsp: ENSP00000430972.1:p.Tyr138Ser
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000369667
  ensembl transcript: ENST00000380311
  gene symbol: DMGDH
  hgvsc: ENST00000380311.4:c.293A>C
  hgvsp: ENSP00000369667.4:p.Tyr98Ser
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000427834
  ensembl transcript: ENST00000518477
  gene symbol: DMGDH
  hgvsc: ENST00000518477.1:c.*130A>C
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000439478
  ensembl transcript: ENST00000540686
  gene symbol: DMGDH
  hgvsc: ENST00000540686.1:c.54-10994A>C
  variant of: http://identifiers.org/hgnc/24475
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2018
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2421
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2704
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3241
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5536
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3166
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3191
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2970
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3328
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3032
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3274
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19046
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48455
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1017
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Tyr299Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS

5-78340228-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78340228
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78340228
    reference: chr 5
allele count: 84
allele frequency: 6.919503113776401e-4
allele num: 121396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000369667
  ensembl transcript: ENST00000380311
  gene symbol: DMGDH
  hgvsc: ENST00000380311.4:c.290A>C
  hgvsp: ENSP00000369667.4:p.Tyr97Ser
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000439478
  ensembl transcript: ENST00000540686
  gene symbol: DMGDH
  hgvsc: ENST00000540686.1:c.54-10997A>C
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430972
  ensembl transcript: ENST00000523732
  gene symbol: DMGDH
  hgvsc: ENST00000523732.1:c.410A>C
  hgvsp: ENSP00000430972.1:p.Tyr137Ser
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000255189
  ensembl transcript: ENST00000255189
  gene symbol: DMGDH
  hgvsc: ENST00000255189.3:c.893A>C
  hgvsp: ENSP00000255189.3:p.Tyr298Ser
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000428995
  ensembl transcript: ENST00000517853
  gene symbol: DMGDH
  hgvsc: ENST00000517853.1:c.277-10997A>C
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430133
  ensembl transcript: ENST00000521052
  gene symbol: DMGDH
  hgvsc: ENST00000521052.1:c.*191A>C
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000427834
  ensembl transcript: ENST00000518477
  gene symbol: DMGDH
  hgvsc: ENST00000518477.1:c.*127A>C
  variant of: http://identifiers.org/hgnc/24475
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3192
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2702
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5535
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 19070
  bin: 9.75e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3166
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1988
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3242
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3271
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3029
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2971
  bin: 6.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48457
  bin: 9.75e1
  variant carriers: 84
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6656
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2042
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Tyr298Ser
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP

5-78340240-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78340240
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78340240
    reference: chr 5
allele count: 3
allele frequency: 2.471210398853358e-5
allele num: 121398
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000369667
  ensembl transcript: ENST00000380311
  gene symbol: DMGDH
  hgvsc: ENST00000380311.4:c.278T>C
  hgvsp: ENSP00000369667.4:p.Leu93Pro
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430972
  ensembl transcript: ENST00000523732
  gene symbol: DMGDH
  hgvsc: ENST00000523732.1:c.398T>C
  hgvsp: ENSP00000430972.1:p.Leu133Pro
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000439478
  ensembl transcript: ENST00000540686
  gene symbol: DMGDH
  hgvsc: ENST00000540686.1:c.54-11009T>C
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000255189
  ensembl transcript: ENST00000255189
  gene symbol: DMGDH
  hgvsc: ENST00000255189.3:c.881T>C
  hgvsp: ENSP00000255189.3:p.Leu294Pro
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430133
  ensembl transcript: ENST00000521052
  gene symbol: DMGDH
  hgvsc: ENST00000521052.1:c.*179T>C
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000427834
  ensembl transcript: ENST00000518477
  gene symbol: DMGDH
  hgvsc: ENST00000518477.1:c.*115T>C
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000428995
  ensembl transcript: ENST00000517853
  gene symbol: DMGDH
  hgvsc: ENST00000517853.1:c.277-11009T>C
  variant of: http://identifiers.org/hgnc/24475
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2421
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5535
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2705
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3272
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3326
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19061
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2012
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3245
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3190
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3167
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6648
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu294Pro
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum

5-78340246-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78340246
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78340246
    reference: chr 5
allele count: 3
allele frequency: 2.471128976458378e-5
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000439478
  ensembl transcript: ENST00000540686
  gene symbol: DMGDH
  hgvsc: ENST00000540686.1:c.54-11015G>A
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000369667
  ensembl transcript: ENST00000380311
  gene symbol: DMGDH
  hgvsc: ENST00000380311.4:c.272G>A
  hgvsp: ENSP00000369667.4:p.Arg91His
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000427834
  ensembl transcript: ENST00000518477
  gene symbol: DMGDH
  hgvsc: ENST00000518477.1:c.*109G>A
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000255189
  ensembl transcript: ENST00000255189
  gene symbol: DMGDH
  hgvsc: ENST00000255189.3:c.875G>A
  hgvsp: ENSP00000255189.3:p.Arg292His
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430972
  ensembl transcript: ENST00000523732
  gene symbol: DMGDH
  hgvsc: ENST00000523732.1:c.392G>A
  hgvsp: ENSP00000430972.1:p.Arg131His
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430133
  ensembl transcript: ENST00000521052
  gene symbol: DMGDH
  hgvsc: ENST00000521052.1:c.*173G>A
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000428995
  ensembl transcript: ENST00000517853
  gene symbol: DMGDH
  hgvsc: ENST00000517853.1:c.277-11015G>A
  variant of: http://identifiers.org/hgnc/24475
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5537
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2707
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3026
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3272
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3245
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2421
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3190
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19062
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3325
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2012
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2041
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg292His
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

5-78340247-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78340247
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78340247
    reference: chr 5
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430133
  ensembl transcript: ENST00000521052
  gene symbol: DMGDH
  hgvsc: ENST00000521052.1:c.*172C>T
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000427834
  ensembl transcript: ENST00000518477
  gene symbol: DMGDH
  hgvsc: ENST00000518477.1:c.*108C>T
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430972
  ensembl transcript: ENST00000523732
  gene symbol: DMGDH
  hgvsc: ENST00000523732.1:c.391C>T
  hgvsp: ENSP00000430972.1:p.Arg131Cys
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000369667
  ensembl transcript: ENST00000380311
  gene symbol: DMGDH
  hgvsc: ENST00000380311.4:c.271C>T
  hgvsp: ENSP00000369667.4:p.Arg91Cys
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000428995
  ensembl transcript: ENST00000517853
  gene symbol: DMGDH
  hgvsc: ENST00000517853.1:c.277-11016C>T
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000255189
  ensembl transcript: ENST00000255189
  gene symbol: DMGDH
  hgvsc: ENST00000255189.3:c.874C>T
  hgvsp: ENSP00000255189.3:p.Arg292Cys
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000439478
  ensembl transcript: ENST00000540686
  gene symbol: DMGDH
  hgvsc: ENST00000540686.1:c.54-11016C>T
  variant of: http://identifiers.org/hgnc/24475
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2421
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3245
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3325
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3272
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19062
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3189
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2705
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5537
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2040
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg292Cys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

5-78340248-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78340248
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78340248
    reference: chr 5
allele count: 8
allele frequency: 6.589785831960461e-5
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430133
  ensembl transcript: ENST00000521052
  gene symbol: DMGDH
  hgvsc: ENST00000521052.1:c.*171C>T
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000428995
  ensembl transcript: ENST00000517853
  gene symbol: DMGDH
  hgvsc: ENST00000517853.1:c.277-11017C>T
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000255189
  ensembl transcript: ENST00000255189
  gene symbol: DMGDH
  hgvsc: ENST00000255189.3:c.873C>T
  hgvsp: ENST00000255189.3:c.873C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000427834
  ensembl transcript: ENST00000518477
  gene symbol: DMGDH
  hgvsc: ENST00000518477.1:c.*107C>T
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000439478
  ensembl transcript: ENST00000540686
  gene symbol: DMGDH
  hgvsc: ENST00000540686.1:c.54-11017C>T
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430972
  ensembl transcript: ENST00000523732
  gene symbol: DMGDH
  hgvsc: ENST00000523732.1:c.390C>T
  hgvsp: ENST00000523732.1:c.390C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000369667
  ensembl transcript: ENST00000380311
  gene symbol: DMGDH
  hgvsc: ENST00000380311.4:c.270C>T
  hgvsp: ENST00000380311.4:c.270C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24475
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2420
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2704
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3026
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19069
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3244
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3189
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3272
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5535
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3167
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1021
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu291Leu
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

5-78340257-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78340257
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78340257
    reference: chr 5
allele count: 68135
allele frequency: 5.613918001450136e-1
allele num: 121368
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000427834
  ensembl transcript: ENST00000518477
  gene symbol: DMGDH
  hgvsc: ENST00000518477.1:c.*98G>C
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000439478
  ensembl transcript: ENST00000540686
  gene symbol: DMGDH
  hgvsc: ENST00000540686.1:c.54-11026G>C
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000255189
  ensembl transcript: ENST00000255189
  gene symbol: DMGDH
  hgvsc: ENST00000255189.3:c.864G>C
  hgvsp: ENST00000255189.3:c.864G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430133
  ensembl transcript: ENST00000521052
  gene symbol: DMGDH
  hgvsc: ENST00000521052.1:c.*162G>C
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000369667
  ensembl transcript: ENST00000380311
  gene symbol: DMGDH
  hgvsc: ENST00000380311.4:c.261G>C
  hgvsp: ENST00000380311.4:c.261G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430972
  ensembl transcript: ENST00000523732
  gene symbol: DMGDH
  hgvsc: ENST00000523732.1:c.381G>C
  hgvsp: ENST00000523732.1:c.381G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000428995
  ensembl transcript: ENST00000517853
  gene symbol: DMGDH
  hgvsc: ENST00000517853.1:c.277-11026G>C
  variant of: http://identifiers.org/hgnc/24475
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 5.75e1
  variant carriers: 1153
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 2.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 6.75e1
  variant carriers: 1827
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 9.25e1
  variant carriers: 2939
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 2245
  bin: 7.25e1
  variant carriers: 2142
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 3.75e1
  variant carriers: 127
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 3.25e1
  variant carriers: 71
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 5.25e1
  variant carriers: 723
genotype depth: GenotypeDepth
  all individuals: 2515
  bin: 7.75e1
  variant carriers: 2438
genotype depth: GenotypeDepth
  all individuals: 29510
  bin: 9.75e1
  variant carriers: 29447
genotype depth: GenotypeDepth
  all individuals: 2935
  bin: 8.75e1
  variant carriers: 2902
genotype depth: GenotypeDepth
  all individuals: 2685
  bin: 8.25e1
  variant carriers: 2650
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 4.75e1
  variant carriers: 438
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 4.25e1
  variant carriers: 299
genotype depth: GenotypeDepth
  all individuals: 5112
  bin: 2.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 6.25e1
  variant carriers: 1440
genotype quality: GenotypeQuality
  all individuals: 50262
  bin: 9.75e1
  variant carriers: 48522
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1795
  bin: 6.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 9.25e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu288Leu
num of homozygotes: 19479
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD

5-78340264-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78340264
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78340264
    reference: chr 5
allele count: 2
allele frequency: 1.647500741375333e-5
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430972
  ensembl transcript: ENST00000523732
  gene symbol: DMGDH
  hgvsc: ENST00000523732.1:c.374G>A
  hgvsp: ENSP00000430972.1:p.Arg125Gln
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000428995
  ensembl transcript: ENST00000517853
  gene symbol: DMGDH
  hgvsc: ENST00000517853.1:c.277-11033G>A
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430133
  ensembl transcript: ENST00000521052
  gene symbol: DMGDH
  hgvsc: ENST00000521052.1:c.*155G>A
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000439478
  ensembl transcript: ENST00000540686
  gene symbol: DMGDH
  hgvsc: ENST00000540686.1:c.54-11033G>A
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000369667
  ensembl transcript: ENST00000380311
  gene symbol: DMGDH
  hgvsc: ENST00000380311.4:c.254G>A
  hgvsp: ENSP00000369667.4:p.Arg85Gln
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000255189
  ensembl transcript: ENST00000255189
  gene symbol: DMGDH
  hgvsc: ENST00000255189.3:c.857G>A
  hgvsp: ENSP00000255189.3:p.Arg286Gln
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000427834
  ensembl transcript: ENST00000518477
  gene symbol: DMGDH
  hgvsc: ENST00000518477.1:c.*91G>A
  variant of: http://identifiers.org/hgnc/24475
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3521
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5217
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3327
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3392
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17670
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2858
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2346
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3140
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3601
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3006
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3565
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48829
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg286Gln
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS

5-78340265-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78340265
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78340265
    reference: chr 5
allele count: 22
allele frequency: 1.812250815512867e-4
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000255189
  ensembl transcript: ENST00000255189
  gene symbol: DMGDH
  hgvsc: ENST00000255189.3:c.856C>T
  hgvsp: ENSP00000255189.3:p.Arg286Ter
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000439478
  ensembl transcript: ENST00000540686
  gene symbol: DMGDH
  hgvsc: ENST00000540686.1:c.54-11034C>T
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430972
  ensembl transcript: ENST00000523732
  gene symbol: DMGDH
  hgvsc: ENST00000523732.1:c.373C>T
  hgvsp: ENSP00000430972.1:p.Arg125Ter
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430133
  ensembl transcript: ENST00000521052
  gene symbol: DMGDH
  hgvsc: ENST00000521052.1:c.*154C>T
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000428995
  ensembl transcript: ENST00000517853
  gene symbol: DMGDH
  hgvsc: ENST00000517853.1:c.277-11034C>T
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000427834
  ensembl transcript: ENST00000518477
  gene symbol: DMGDH
  hgvsc: ENST00000518477.1:c.*90C>T
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000369667
  ensembl transcript: ENST00000380311
  gene symbol: DMGDH
  hgvsc: ENST00000380311.4:c.253C>T
  hgvsp: ENSP00000369667.4:p.Arg85Ter
  variant of: http://identifiers.org/hgnc/24475
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5217
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17668
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 2858
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2347
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3140
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3327
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3521
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3565
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3006
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3392
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3600
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg286Ter
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

5-78340273-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78340273
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78340273
    reference: chr 5
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000428995
  ensembl transcript: ENST00000517853
  gene symbol: DMGDH
  hgvsc: ENST00000517853.1:c.277-11042C>G
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000369667
  ensembl transcript: ENST00000380311
  gene symbol: DMGDH
  hgvsc: ENST00000380311.4:c.245C>G
  hgvsp: ENSP00000369667.4:p.Ala82Gly
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430972
  ensembl transcript: ENST00000523732
  gene symbol: DMGDH
  hgvsc: ENST00000523732.1:c.365C>G
  hgvsp: ENSP00000430972.1:p.Ala122Gly
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000255189
  ensembl transcript: ENST00000255189
  gene symbol: DMGDH
  hgvsc: ENST00000255189.3:c.848C>G
  hgvsp: ENSP00000255189.3:p.Ala283Gly
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430133
  ensembl transcript: ENST00000521052
  gene symbol: DMGDH
  hgvsc: ENST00000521052.1:c.*146C>G
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000427834
  ensembl transcript: ENST00000518477
  gene symbol: DMGDH
  hgvsc: ENST00000518477.1:c.*82C>G
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000439478
  ensembl transcript: ENST00000540686
  gene symbol: DMGDH
  hgvsc: ENST00000540686.1:c.54-11042C>G
  variant of: http://identifiers.org/hgnc/24475
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3565
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3520
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3008
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3392
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3600
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5211
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2349
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2854
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3325
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17664
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2737
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6312
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48825
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala283Gly
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff

5-78340286-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78340286
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78340286
    reference: chr 5
allele count: 68119
allele frequency: 5.613709783755274e-1
allele num: 121344
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430972
  ensembl transcript: ENST00000523732
  gene symbol: DMGDH
  hgvsc: ENST00000523732.1:c.352T>C
  hgvsp: ENSP00000430972.1:p.Ser118Pro
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000439478
  ensembl transcript: ENST00000540686
  gene symbol: DMGDH
  hgvsc: ENST00000540686.1:c.54-11055T>C
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000428995
  ensembl transcript: ENST00000517853
  gene symbol: DMGDH
  hgvsc: ENST00000517853.1:c.277-11055T>C
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000369667
  ensembl transcript: ENST00000380311
  gene symbol: DMGDH
  hgvsc: ENST00000380311.4:c.232T>C
  hgvsp: ENSP00000369667.4:p.Ser78Pro
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000255189
  ensembl transcript: ENST00000255189
  gene symbol: DMGDH
  hgvsc: ENST00000255189.3:c.835T>C
  hgvsp: ENSP00000255189.3:p.Ser279Pro
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430133
  ensembl transcript: ENST00000521052
  gene symbol: DMGDH
  hgvsc: ENST00000521052.1:c.*133T>C
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000427834
  ensembl transcript: ENST00000518477
  gene symbol: DMGDH
  hgvsc: ENST00000518477.1:c.*69T>C
  variant of: http://identifiers.org/hgnc/24475
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 4.25e1
  variant carriers: 918
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5187
  bin: 2.75e1
  variant carriers: 94
genotype depth: GenotypeDepth
  all individuals: 2259
  bin: 5.25e1
  variant carriers: 2031
genotype depth: GenotypeDepth
  all individuals: 3526
  bin: 8.25e1
  variant carriers: 3493
genotype depth: GenotypeDepth
  all individuals: 18123
  bin: 9.75e1
  variant carriers: 18066
genotype depth: GenotypeDepth
  all individuals: 3333
  bin: 8.75e1
  variant carriers: 3303
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 2.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 3358
  bin: 6.75e1
  variant carriers: 3215
genotype depth: GenotypeDepth
  all individuals: 3098
  bin: 6.25e1
  variant carriers: 2905
genotype depth: GenotypeDepth
  all individuals: 3072
  bin: 9.25e1
  variant carriers: 3058
genotype depth: GenotypeDepth
  all individuals: 3628
  bin: 7.75e1
  variant carriers: 3553
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 3.75e1
  variant carriers: 448
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 5.75e1
  variant carriers: 2427
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 3562
  bin: 7.25e1
  variant carriers: 3459
genotype depth: GenotypeDepth
  all individuals: 2813
  bin: 3.25e1
  variant carriers: 221
genotype depth: GenotypeDepth
  all individuals: 1727
  bin: 4.75e1
  variant carriers: 1392
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 50087
  bin: 9.75e1
  variant carriers: 48364
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1801
  bin: 6.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 8.75e1
  variant carriers: 39
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 12
hgvs: p.Ser279Pro
num of homozygotes: 19473
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

5-78340291-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78340291
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78340291
    reference: chr 5
allele count: 3
allele frequency: 2.47255464345762e-5
allele num: 121332
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430133
  ensembl transcript: ENST00000521052
  gene symbol: DMGDH
  hgvsc: ENST00000521052.1:c.*128C>T
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000255189
  ensembl transcript: ENST00000255189
  gene symbol: DMGDH
  hgvsc: ENST00000255189.3:c.830C>T
  hgvsp: ENSP00000255189.3:p.Thr277Ile
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430972
  ensembl transcript: ENST00000523732
  gene symbol: DMGDH
  hgvsc: ENST00000523732.1:c.347C>T
  hgvsp: ENSP00000430972.1:p.Thr116Ile
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000427834
  ensembl transcript: ENST00000518477
  gene symbol: DMGDH
  hgvsc: ENST00000518477.1:c.*64C>T
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000439478
  ensembl transcript: ENST00000540686
  gene symbol: DMGDH
  hgvsc: ENST00000540686.1:c.54-11060C>T
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000369667
  ensembl transcript: ENST00000380311
  gene symbol: DMGDH
  hgvsc: ENST00000380311.4:c.227C>T
  hgvsp: ENSP00000369667.4:p.Thr76Ile
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000428995
  ensembl transcript: ENST00000517853
  gene symbol: DMGDH
  hgvsc: ENST00000517853.1:c.277-11060C>T
  variant of: http://identifiers.org/hgnc/24475
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13417
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6091
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22324
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2116
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5936
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3411
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8828
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10822
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26647
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3245
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr277Ile
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/5-78340293-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78340293
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78340293
    reference: chr 5
allele count: 1
allele frequency: 8.241712957621112e-6
allele num: 121334
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000439478
  ensembl transcript: ENST00000540686
  gene symbol: DMGDH
  hgvsc: ENST00000540686.1:c.54-11062G>T
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430972
  ensembl transcript: ENST00000523732
  gene symbol: DMGDH
  hgvsc: ENST00000523732.1:c.345G>T
  hgvsp: ENST00000523732.1:c.345G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000427834
  ensembl transcript: ENST00000518477
  gene symbol: DMGDH
  hgvsc: ENST00000518477.1:c.*62G>T
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000428995
  ensembl transcript: ENST00000517853
  gene symbol: DMGDH
  hgvsc: ENST00000517853.1:c.277-11062G>T
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430133
  ensembl transcript: ENST00000521052
  gene symbol: DMGDH
  hgvsc: ENST00000521052.1:c.*126G>T
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000255189
  ensembl transcript: ENST00000255189
  gene symbol: DMGDH
  hgvsc: ENST00000255189.3:c.828G>T
  hgvsp: ENST00000255189.3:c.828G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000369667
  ensembl transcript: ENST00000380311
  gene symbol: DMGDH
  hgvsc: ENST00000380311.4:c.225G>T
  hgvsp: ENST00000380311.4:c.225G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24475
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6091
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13418
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5935
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2115
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3232
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10818
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser276Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

5-78340293-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78340293
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78340293
    reference: chr 5
allele count: 5
allele frequency: 4.120856478810556e-5
allele num: 121334
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430133
  ensembl transcript: ENST00000521052
  gene symbol: DMGDH
  hgvsc: ENST00000521052.1:c.*126G>A
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430972
  ensembl transcript: ENST00000523732
  gene symbol: DMGDH
  hgvsc: ENST00000523732.1:c.345G>A
  hgvsp: ENST00000523732.1:c.345G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000427834
  ensembl transcript: ENST00000518477
  gene symbol: DMGDH
  hgvsc: ENST00000518477.1:c.*62G>A
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000428995
  ensembl transcript: ENST00000517853
  gene symbol: DMGDH
  hgvsc: ENST00000517853.1:c.277-11062G>A
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000255189
  ensembl transcript: ENST00000255189
  gene symbol: DMGDH
  hgvsc: ENST00000255189.3:c.828G>A
  hgvsp: ENST00000255189.3:c.828G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000439478
  ensembl transcript: ENST00000540686
  gene symbol: DMGDH
  hgvsc: ENST00000540686.1:c.54-11062G>A
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000369667
  ensembl transcript: ENST00000380311
  gene symbol: DMGDH
  hgvsc: ENST00000380311.4:c.225G>A
  hgvsp: ENST00000380311.4:c.225G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24475
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5935
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6091
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13418
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2115
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4545
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3246
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser276Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

5-78340294-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78340294
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78340294
    reference: chr 5
allele count: 4
allele frequency: 3.297011259293451e-5
allele num: 121322
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430972
  ensembl transcript: ENST00000523732
  gene symbol: DMGDH
  hgvsc: ENST00000523732.1:c.344C>T
  hgvsp: ENSP00000430972.1:p.Ser115Leu
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000255189
  ensembl transcript: ENST00000255189
  gene symbol: DMGDH
  hgvsc: ENST00000255189.3:c.827C>T
  hgvsp: ENSP00000255189.3:p.Ser276Leu
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000428995
  ensembl transcript: ENST00000517853
  gene symbol: DMGDH
  hgvsc: ENST00000517853.1:c.277-11063C>T
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430133
  ensembl transcript: ENST00000521052
  gene symbol: DMGDH
  hgvsc: ENST00000521052.1:c.*125C>T
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000427834
  ensembl transcript: ENST00000518477
  gene symbol: DMGDH
  hgvsc: ENST00000518477.1:c.*61C>T
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000369667
  ensembl transcript: ENST00000380311
  gene symbol: DMGDH
  hgvsc: ENST00000380311.4:c.224C>T
  hgvsp: ENSP00000369667.4:p.Ser75Leu
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000439478
  ensembl transcript: ENST00000540686
  gene symbol: DMGDH
  hgvsc: ENST00000540686.1:c.54-11063C>T
  variant of: http://identifiers.org/hgnc/24475
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13413
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5937
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3409
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2115
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6098
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8823
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1945
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3244
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser276Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

5-78340294-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78340294
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78340294
    reference: chr 5
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000439478
  ensembl transcript: ENST00000540686
  gene symbol: DMGDH
  hgvsc: ENST00000540686.1:c.54-11063C>A
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430133
  ensembl transcript: ENST00000521052
  gene symbol: DMGDH
  hgvsc: ENST00000521052.1:c.*125C>A
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000428995
  ensembl transcript: ENST00000517853
  gene symbol: DMGDH
  hgvsc: ENST00000517853.1:c.277-11063C>A
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000255189
  ensembl transcript: ENST00000255189
  gene symbol: DMGDH
  hgvsc: ENST00000255189.3:c.827C>A
  hgvsp: ENSP00000255189.3:p.Ser276Ter
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430972
  ensembl transcript: ENST00000523732
  gene symbol: DMGDH
  hgvsc: ENST00000523732.1:c.344C>A
  hgvsp: ENSP00000430972.1:p.Ser115Ter
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000427834
  ensembl transcript: ENST00000518477
  gene symbol: DMGDH
  hgvsc: ENST00000518477.1:c.*61C>A
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000369667
  ensembl transcript: ENST00000380311
  gene symbol: DMGDH
  hgvsc: ENST00000380311.4:c.224C>A
  hgvsp: ENSP00000369667.4:p.Ser75Ter
  variant of: http://identifiers.org/hgnc/24475
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6098
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2115
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5937
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13413
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3409
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10812
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3244
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1314
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3231
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser276Ter
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

5-78340296-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78340296
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78340296
    reference: chr 5
allele count: 1
allele frequency: 8.242664029014178e-6
allele num: 121320
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000427834
  ensembl transcript: ENST00000518477
  gene symbol: DMGDH
  hgvsc: ENST00000518477.1:c.*59A>C
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000369667
  ensembl transcript: ENST00000380311
  gene symbol: DMGDH
  hgvsc: ENST00000380311.4:c.222A>C
  hgvsp: ENST00000380311.4:c.222A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430972
  ensembl transcript: ENST00000523732
  gene symbol: DMGDH
  hgvsc: ENST00000523732.1:c.342A>C
  hgvsp: ENST00000523732.1:c.342A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000255189
  ensembl transcript: ENST00000255189
  gene symbol: DMGDH
  hgvsc: ENST00000255189.3:c.825A>C
  hgvsp: ENST00000255189.3:c.825A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000439478
  ensembl transcript: ENST00000540686
  gene symbol: DMGDH
  hgvsc: ENST00000540686.1:c.54-11065A>C
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000428995
  ensembl transcript: ENST00000517853
  gene symbol: DMGDH
  hgvsc: ENST00000517853.1:c.277-11065A>C
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430133
  ensembl transcript: ENST00000521052
  gene symbol: DMGDH
  hgvsc: ENST00000521052.1:c.*123A>C
  variant of: http://identifiers.org/hgnc/24475
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5936
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3407
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2115
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6106
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13407
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22325
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3233
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr275Thr
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP

http://identifiers.org/exac.variant/5-78340301-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78340301
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78340301
    reference: chr 5
allele count: 1
allele frequency: 8.243207596940122e-6
allele num: 121312
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000439478
  ensembl transcript: ENST00000540686
  gene symbol: DMGDH
  hgvsc: ENST00000540686.1:c.54-11070G>T
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000428995
  ensembl transcript: ENST00000517853
  gene symbol: DMGDH
  hgvsc: ENST00000517853.1:c.277-11070G>T
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000427834
  ensembl transcript: ENST00000518477
  gene symbol: DMGDH
  hgvsc: ENST00000518477.1:c.*54G>T
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000369667
  ensembl transcript: ENST00000380311
  gene symbol: DMGDH
  hgvsc: ENST00000380311.4:c.217G>T
  hgvsp: ENSP00000369667.4:p.Val73Phe
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000255189
  ensembl transcript: ENST00000255189
  gene symbol: DMGDH
  hgvsc: ENST00000255189.3:c.820G>T
  hgvsp: ENSP00000255189.3:p.Val274Phe
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430972
  ensembl transcript: ENST00000523732
  gene symbol: DMGDH
  hgvsc: ENST00000523732.1:c.337G>T
  hgvsp: ENSP00000430972.1:p.Val113Phe
  variant of: http://identifiers.org/hgnc/24475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132837
  ensembl protein: ENSP00000430133
  ensembl transcript: ENST00000521052
  gene symbol: DMGDH
  hgvsc: ENST00000521052.1:c.*118G>T
  variant of: http://identifiers.org/hgnc/24475
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13402
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6120
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5937
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2115
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22317
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3406
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10803
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4541
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1314
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val274Phe
num of homozygotes: 0
reference allele: C

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

GenotypeQuality
all individuals: 1247
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7181
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3274
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33604
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.200012000120001e-4
allele num: 66666
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -5.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.67e-1

DP
type: SiteQuality
SIO_000300: 1.730124e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.97e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 7.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.78e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.341e1

GenotypeQuality
all individuals: 77
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1248
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 998
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2644
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9396
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66676
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.945e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.6e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.21e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.73055e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.008e0

QD
type: SiteQuality
SIO_000300: 1.009e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

VQSLOD
type: SiteQuality
SIO_000300: 5.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1247
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2140
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9402
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3274
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499565126113427e-5
allele num: 66686
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.97e1

MQRankSum
type: SiteQuality
SIO_000300: -2.86e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.04e0

DP
type: SiteQuality
SIO_000300: 1.731421e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.91e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.265e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.590000000000001e-1

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2138
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3274
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1001
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1247
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2650
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9402
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499295331194339e-5
allele num: 66698
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.82e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.600000000000001e-1

QD
type: SiteQuality
SIO_000300: 9.640000000000001e0

DP
type: SiteQuality
SIO_000300: 1.73157e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.341e0

MQRankSum
type: SiteQuality
SIO_000300: 4.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

FS
type: SiteQuality
SIO_000300: 5.733e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.3e-2

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7208
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3273
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variant carriers: 0

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

GenotypeQuality
all individuals: 2649
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 2140
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1247
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66708
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.01e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.11e-2

VQSLOD
type: SiteQuality
SIO_000300: 7.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.49e-1

FS
type: SiteQuality
SIO_000300: 1.624e0

DP
type: SiteQuality
SIO_000300: 1.731903e6

MQRankSum
type: SiteQuality
SIO_000300: 8.53e-1

QD
type: SiteQuality
SIO_000300: 1.289e1

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2647
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9400
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1002
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33657
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499160470136723e-5
allele num: 66704
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.732142e6

VQSLOD
type: SiteQuality
SIO_000300: 2.09e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.911e0

MQRankSum
type: SiteQuality
SIO_000300: 5.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.32e-1

FS
type: SiteQuality
SIO_000300: 7.79e-1

MQ
type: SiteQuality
SIO_000300: 5.977e1

QD
type: SiteQuality
SIO_000300: 1.251e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.43e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.68e-1

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

GenotypeQuality
all individuals: 7208
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 46
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9400
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3276
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33658
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1247
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2143
bin: 8.25e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 5.886e0

QD
type: SiteQuality
SIO_000300: 1.204e1

VQSLOD
type: SiteQuality
SIO_000300: 5.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.11e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.29e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.14e-1

DP
type: SiteQuality
SIO_000300: 1.732362e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.16e-1

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

GenotypeQuality
all individuals: 2142
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33677
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1002
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1247
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9403
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 2648
bin: 7.25e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 4
allele frequency: 4.622140050843541e-4
allele num: 8654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.763e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.54e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.11e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

QD
type: SiteQuality
SIO_000300: 1.237e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.36e-1

DP
type: SiteQuality
SIO_000300: 1.732535e6

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

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

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7209
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2649
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2143
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1003
bin: 8.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.098e0

VQSLOD
type: SiteQuality
SIO_000300: -2.834e-1

DP
type: SiteQuality
SIO_000300: 1.732723e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.3e-2

QD
type: SiteQuality
SIO_000300: 1.037e1

MQRankSum
type: SiteQuality
SIO_000300: -4.5e-1

MQ
type: SiteQuality
SIO_000300: 5.893e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.66e-1

GenotypeQuality
all individuals: 10498
bin: 9.75e1
variant carriers: 1321

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 1214
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7046
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 33052
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variant carriers: 0

GenotypeQuality
all individuals: 2087
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 966
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 95
allele frequency: 1.437651331719128e-2
allele num: 6608
num of homozygotes: 0

Other
type: Population
allele count: 10
allele frequency: 1.101321585903084e-2
allele num: 908
num of homozygotes: 0

Latino
type: Population
allele count: 60
allele frequency: 5.196604884808591e-3
allele num: 11546
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 982
allele frequency: 1.471646085601247e-2
allele num: 66728
num of homozygotes: 11

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

African
type: Population
allele count: 13
allele frequency: 1.249279261964251e-3
allele num: 10406
num of homozygotes: 0

South Asian
type: Population
allele count: 172
allele frequency: 1.041666666666667e-2
allele num: 16512
num of homozygotes: 2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.22e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.67e0

DP
type: SiteQuality
SIO_000300: 1.828054e6

MQRankSum
type: SiteQuality
SIO_000300: 1.59e-1

QD
type: SiteQuality
SIO_000300: 1.547e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.09e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.590000000000001e-1

GenotypeQuality
all individuals: 3315
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 2173
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 33366
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7227
bin: 6.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.49e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.26e-1

DP
type: SiteQuality
SIO_000300: 1.752421e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
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SIO_000300: 0.0e0

MQRankSum
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BaseQRankSum
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QD
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

Latino
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allele frequency: 8.659508139937652e-5
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African
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European (Non-Finnish)
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South Asian
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East Asian
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Other
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DP
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VQSLOD
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QD
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MQRankSum
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BaseQRankSum
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FS
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ClippingRankSum
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InbreedingCoeff
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MQ
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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East Asian
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European (Finnish)
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African
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European (Non-Finnish)
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allele frequency: 0.0e0
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InbreedingCoeff
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FS
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BaseQRankSum
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MQRankSum
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QD
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ReadPosRankSum
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MQ
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DP
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VQSLOD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Other
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Latino
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South Asian
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East Asian
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African
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ReadPosRankSum
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BaseQRankSum
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QD
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FS
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MQ
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DP
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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European (Non-Finnish)
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African
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European (Finnish)
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Latino
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BaseQRankSum
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ClippingRankSum
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QD
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DP
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MQRankSum
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FS
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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South Asian
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Latino
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European (Non-Finnish)
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African
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Other
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East Asian
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ClippingRankSum
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BaseQRankSum
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MQ
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FS
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MQRankSum
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DP
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VQSLOD
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InbreedingCoeff
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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European (Finnish)
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East Asian
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Latino
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African
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South Asian
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Other
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FS
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InbreedingCoeff
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VQSLOD
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MQ
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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European (Finnish)
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South Asian
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Other
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African
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East Asian
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Latino
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InbreedingCoeff
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FS
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ClippingRankSum
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DP
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BaseQRankSum
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MQ
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MQRankSum
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QD
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ReadPosRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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African
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European (Non-Finnish)
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Other
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European (Finnish)
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East Asian
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QD
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ClippingRankSum
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FS
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VQSLOD
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BaseQRankSum
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MQRankSum
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DP
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InbreedingCoeff
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ReadPosRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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European (Finnish)
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Latino
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South Asian
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InbreedingCoeff
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DP
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QD
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MQ
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VQSLOD
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FS
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ClippingRankSum
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MQRankSum
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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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South Asian
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European (Non-Finnish)
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African
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European (Finnish)
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East Asian
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allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.241e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.26e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.41e0

MQRankSum
type: SiteQuality
SIO_000300: 7.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.05e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.656e0

QD
type: SiteQuality
SIO_000300: 1.463e1

DP
type: SiteQuality
SIO_000300: 1.752287e6

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3317
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2664
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1287
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 4
allele frequency: 3.466204506065858e-4
allele num: 11540
num of homozygotes: 0

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

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

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.945e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.94e-1

FS
type: SiteQuality
SIO_000300: 4.275e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.161e1

DP
type: SiteQuality
SIO_000300: 1.752076e6

VQSLOD
type: SiteQuality
SIO_000300: 9.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.815e0

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

GenotypeQuality
all individuals: 12
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -2.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.186e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.14e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.109e0

VQSLOD
type: SiteQuality
SIO_000300: 9.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.8e-1

DP
type: SiteQuality
SIO_000300: 1.751767e6

MQ
type: SiteQuality
SIO_000300: 5.96e1

FS
type: SiteQuality
SIO_000300: 1.812e0

GenotypeQuality
all individuals: 125
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33231
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
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variant carriers: 0

GenotypeQuality
all individuals: 2663
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7228
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9619
bin: 9.75e1
variant carriers: 1

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.750932e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.3e-1

MQ
type: SiteQuality
SIO_000300: 5.913e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.75e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.64e0

QD
type: SiteQuality
SIO_000300: 1.711e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.9e-2

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2169
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2657
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7208
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998500749625187e-5
allele num: 66700
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10250
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 8.105e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

DP
type: SiteQuality
SIO_000300: 1.748237e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.61e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.6e0

VQSLOD
type: SiteQuality
SIO_000300: 3.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.97e-1

QD
type: SiteQuality
SIO_000300: 1.5e1

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

GenotypeQuality
all individuals: 119
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1008
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7191
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10196
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499925003749813e-5
allele num: 66670
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.272e0

VQSLOD
type: SiteQuality
SIO_000300: 2.64e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.035e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.11e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

DP
type: SiteQuality
SIO_000300: 1.745581e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.556e0

GenotypeQuality
all individuals: 21
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2164
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 555
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variant carriers: 0

GenotypeQuality
all individuals: 9618
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 31440
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 5.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.062810719049351e-5
allele num: 16494
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66616
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.379e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.09e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.59e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.738743e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.53e-1

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 641
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2165
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30004
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9628
bin: 9.75e1
variant carriers: 13

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1284
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 6.077444000694565e-4
allele num: 11518
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 6.963788300835655e-4
allele num: 8616
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10044
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66570
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -8.400000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.4e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.41e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.15e-1

QD
type: SiteQuality
SIO_000300: 1.354e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.732762e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

GenotypeQuality
all individuals: 2160
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3272
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
all individuals: 667
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 20

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
all individuals: 1283
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 6
allele frequency: 5.973715651135006e-4
allele num: 10044
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.326122354035822e-4
allele num: 8598
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.803209713289656e-4
allele num: 66548
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.459e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 2.85e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.48e-1

QD
type: SiteQuality
SIO_000300: 1.387e1

MQ
type: SiteQuality
SIO_000300: 5.967e1

FS
type: SiteQuality
SIO_000300: 9.379999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.19e-1

DP
type: SiteQuality
SIO_000300: 1.735313e6

GenotypeQuality
all individuals: 346
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variant carriers: 0

GenotypeQuality
all individuals: 2615
bin: 7.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 258
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variant carriers: 0

GenotypeQuality
all individuals: 7076
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10040
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.212709192335678e-4
allele num: 16492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.505722267279445e-5
allele num: 66582
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.52e0

DP
type: SiteQuality
SIO_000300: 1.731015e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.04e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.21e-1

QD
type: SiteQuality
SIO_000300: 1.657e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.43e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.49e-2

GenotypeQuality
all individuals: 2612
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
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variant carriers: 0

GenotypeQuality
all individuals: 108
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GenotypeQuality
all individuals: 198
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GenotypeQuality
all individuals: 2175
bin: 8.25e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
all individuals: 28901
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 854
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10028
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66556
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.291e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.929e0

MQRankSum
type: SiteQuality
SIO_000300: -1.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

DP
type: SiteQuality
SIO_000300: 1.727384e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

FS
type: SiteQuality
SIO_000300: 3.293e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.09e-1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1294
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GenotypeQuality
all individuals: 1012
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10022
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502810255177181e-5
allele num: 66542
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.965e1

FS
type: SiteQuality
SIO_000300: 2.243e0

QD
type: SiteQuality
SIO_000300: 1.625e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.802e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.500000000000001e-3

MQRankSum
type: SiteQuality
SIO_000300: -9.8e-2

DP
type: SiteQuality
SIO_000300: 1.723474e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.57e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.64e-1

GenotypeQuality
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bin: 4.25e1
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: 4

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.456619426201175e-4
allele num: 11572
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.953e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.87e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.349e1

FS
type: SiteQuality
SIO_000300: 1.879e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.600000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.15e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.62e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

DP
type: SiteQuality
SIO_000300: 4.767363e6

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498890820792613e-5
allele num: 66716
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.768049e6

FS
type: SiteQuality
SIO_000300: 9.65e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.175e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.44e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.73e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.503e0

VQSLOD
type: SiteQuality
SIO_000300: -1.83e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

QD
type: SiteQuality
SIO_000300: 1.159e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 21
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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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variant carriers: 1

GenotypeQuality
all individuals: 576
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.25e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e0

DP
type: SiteQuality
SIO_000300: 4.76837e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.91e-1

QD
type: SiteQuality
SIO_000300: 1.163e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 5.351e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.17e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 12

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 20
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

South Asian
type: Population
allele count: 5
allele frequency: 3.028100775193798e-4
allele num: 16512
num of homozygotes: 0

East Asian
type: Population
allele count: 7
allele frequency: 8.088745088976196e-4
allele num: 8654
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.47e0

MQRankSum
type: SiteQuality
SIO_000300: -3.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.06e-1

FS
type: SiteQuality
SIO_000300: 5.26e-1

MQ
type: SiteQuality
SIO_000300: 5.946e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -8.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.19e-1

DP
type: SiteQuality
SIO_000300: 4.768849e6

QD
type: SiteQuality
SIO_000300: 1.319e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 15
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 6.37e-1

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
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DP
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SIO_000300: 4.768642e6

MQRankSum
type: SiteQuality
SIO_000300: 5.95e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.04e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.2e-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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variant carriers: 0

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

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

European (Finnish)
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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: 10396
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

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

Other
type: Population
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allele num: 908
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.71e-1

VQSLOD
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MQ
type: SiteQuality
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FS
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QD
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MQRankSum
type: SiteQuality
SIO_000300: -2.91e0

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

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.778e0

FS
type: SiteQuality
SIO_000300: 1.1102e1

ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
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VQSLOD
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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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
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allele num: 10400
num of homozygotes: 0

South Asian
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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
allele num: 11572
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 2.996793431028799e-5
allele num: 66738
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
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DP
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InbreedingCoeff
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FS
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ClippingRankSum
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QD
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.95e0

MQRankSum
type: SiteQuality
SIO_000300: 1.14e0

VQSLOD
type: SiteQuality
SIO_000300: 3.25e-1

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

GenotypeQuality
all individuals: 48716
bin: 9.75e1
variant carriers: 1

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

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

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

FS
type: SiteQuality
SIO_000300: 1.785e0

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

MQ
type: SiteQuality
SIO_000300: 5.984e1

MQRankSum
type: SiteQuality
SIO_000300: -9.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.285e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.79e-1

QD
type: SiteQuality
SIO_000300: 1.351e1

DP
type: SiteQuality
SIO_000300: 4.769618e6

GenotypeQuality
all individuals: 2007
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 48716
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variant carriers: 1

GenotypeQuality
all individuals: 580
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.971e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.926e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e0

MQRankSum
type: SiteQuality
SIO_000300: -1.056e0

FS
type: SiteQuality
SIO_000300: 7.029e0

VQSLOD
type: SiteQuality
SIO_000300: -1.733e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.157e0

QD
type: SiteQuality
SIO_000300: 1.375e1

DP
type: SiteQuality
SIO_000300: 4.769643e6

GenotypeQuality
all individuals: 736
bin: 7.25e1
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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2007
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variant carriers: 0

GenotypeQuality
all individuals: 48715
bin: 9.75e1
variant carriers: 12

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.491983577571999e-5
allele num: 66738
num of homozygotes: 0

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

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

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

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

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

South Asian
type: Population
allele count: 3
allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.28e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.405e1

MQ
type: SiteQuality
SIO_000300: 5.955e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.86e0

DP
type: SiteQuality
SIO_000300: 4.769787e6

MQRankSum
type: SiteQuality
SIO_000300: 3.25e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.23e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.18e-1

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

GenotypeQuality
all individuals: 729
bin: 8.25e1
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GenotypeQuality
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GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 7
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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
all individuals: 2010
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variant carriers: 0

GenotypeQuality
all individuals: 6497
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variant carriers: 0

GenotypeQuality
all individuals: 580
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -9.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -9.5e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.012e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.34e0

QD
type: SiteQuality
SIO_000300: 1.813e1

FS
type: SiteQuality
SIO_000300: 7.876e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.86e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 4.769033e6

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 3.75e1
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GenotypeQuality
all individuals: 994
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variant carriers: 0

GenotypeQuality
all individuals: 729
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 2011
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 736
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 580
bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 4.769003e6

VQSLOD
type: SiteQuality
SIO_000300: -4.716e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.47e-1

MQ
type: SiteQuality
SIO_000300: 5.988e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.282e0

QD
type: SiteQuality
SIO_000300: 5.05e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.61e0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 995
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
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GenotypeQuality
all individuals: 729
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
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GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 2009
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variant carriers: 0

GenotypeQuality
all individuals: 0
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GenotypeQuality
all individuals: 578
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GenotypeQuality
all individuals: 48717
bin: 9.75e1
variant carriers: 196

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

South Asian
type: Population
allele count: 35
allele frequency: 2.119927316777711e-3
allele num: 16510
num of homozygotes: 0

Other
type: Population
allele count: 6
allele frequency: 6.607929515418502e-3
allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.921968095329617e-4
allele num: 10406
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 12
allele frequency: 1.814333232537043e-3
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 51
allele frequency: 4.407951598962835e-3
allele num: 11570
num of homozygotes: 2

European (Non-Finnish)
type: Population
allele count: 92
allele frequency: 1.378524978273248e-3
allele num: 66738
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.25e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.67e0

MQRankSum
type: SiteQuality
SIO_000300: 2.44e-1

FS
type: SiteQuality
SIO_000300: 1.122e0

DP
type: SiteQuality
SIO_000300: 4.7701e6

MQ
type: SiteQuality
SIO_000300: 5.979e1

QD
type: SiteQuality
SIO_000300: 1.424e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.378e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.51e-1

GenotypeQuality
all individuals: 9
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6540
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 737
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GenotypeQuality
all individuals: 407
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.996883241428914e-5
allele num: 66736
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -5.207e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

MQRankSum
type: SiteQuality
SIO_000300: -4.03e-1

FS
type: SiteQuality
SIO_000300: 5.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.405e1

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.97e-1

DP
type: SiteQuality
SIO_000300: 4.758336e6

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3
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GenotypeQuality
all individuals: 2019
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variant carriers: 0

GenotypeQuality
all individuals: 405
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variant carriers: 0

GenotypeQuality
all individuals: 579
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 1.561e0

QD
type: SiteQuality
SIO_000300: 1.6e1

DP
type: SiteQuality
SIO_000300: 4.758002e6

MQRankSum
type: SiteQuality
SIO_000300: 4.12e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.627e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -6.899e0

MQ
type: SiteQuality
SIO_000300: 5.914e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.166e0

GenotypeQuality
all individuals: 4
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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
all individuals: 2021
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

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

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

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.58e0

QD
type: SiteQuality
SIO_000300: 1.53e1

FS
type: SiteQuality
SIO_000300: 4.735e0

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.620000000000001e-1

DP
type: SiteQuality
SIO_000300: 4.757936e6

MQ
type: SiteQuality
SIO_000300: 5.969e1

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2021
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variant carriers: 0

GenotypeQuality
all individuals: 2
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1
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GenotypeQuality
all individuals: 3
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GenotypeQuality
all individuals: 406
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GenotypeQuality
all individuals: 6542
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

East Asian
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Other
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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: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11564
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
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DP
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InbreedingCoeff
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SIO_000300: -2.0e-4

BaseQRankSum
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SIO_000300: -1.61e-1

FS
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SIO_000300: 3.162e0

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 7.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e0

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

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

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

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

South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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Other
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ClippingRankSum
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VQSLOD
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MQRankSum
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BaseQRankSum
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SIO_000300: -1.496e0

FS
type: SiteQuality
SIO_000300: 6.6e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.09e-1

MQ
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SIO_000300: 5.964e1

DP
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InbreedingCoeff
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SIO_000300: 2.0e-4

QD
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SIO_000300: 1.94e1

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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African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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South Asian
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num of homozygotes: 0

East Asian
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allele num: 8654
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Other
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allele count: 0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.495190146543199e-5
allele num: 66738
num of homozygotes: 0

Latino
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allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.949e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.679999999999999e-1

DP
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FS
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VQSLOD
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InbreedingCoeff
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SIO_000300: 0.0e0

MQRankSum
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QD
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ReadPosRankSum
type: SiteQuality
SIO_000300: 8.5e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.498441620714457e-4
allele num: 66736
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11568
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East Asian
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allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

South Asian
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allele count: 0
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 3.3e-2

DP
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SIO_000300: 4.758151e6

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.942e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e-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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variant carriers: 524

African
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allele count: 7
allele frequency: 6.726888333653661e-4
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 448
allele frequency: 6.713018460800768e-3
allele num: 66736
num of homozygotes: 7

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

Latino
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allele count: 24
allele frequency: 2.074330164217805e-3
allele num: 11570
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 35
allele frequency: 5.291805261566375e-3
allele num: 6614
num of homozygotes: 0

Other
type: Population
allele count: 6
allele frequency: 6.607929515418502e-3
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num of homozygotes: 0

South Asian
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allele count: 11
allele frequency: 6.662628709872804e-4
allele num: 16510
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.975e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.408e0

QD
type: SiteQuality
SIO_000300: 1.376e1

MQRankSum
type: SiteQuality
SIO_000300: 3.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.32e-2

FS
type: SiteQuality
SIO_000300: 5.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.52e0

DP
type: SiteQuality
SIO_000300: 4.773313e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.51e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 585
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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African
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

Other
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East Asian
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.67e0

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQ
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ClippingRankSum
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MQRankSum
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VQSLOD
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DP
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 1.0913e1

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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Other
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African
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allele frequency: 6.726888333653661e-4
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 59
allele frequency: 8.840805562215296e-4
allele num: 66736
num of homozygotes: 0

South Asian
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allele frequency: 8.479709267110841e-4
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East Asian
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Latino
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allele count: 2
allele frequency: 1.728907330567082e-4
allele num: 11568
num of homozygotes: 0

European (Finnish)
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allele count: 2
allele frequency: 3.023888720895071e-4
allele num: 6614
num of homozygotes: 0

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

East Asian
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South Asian
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allele frequency: 1.816860465116279e-4
allele num: 16512
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Other
type: Population
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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African
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allele frequency: 0.0e0
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European (Finnish)
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
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MQ
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QD
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DP
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InbreedingCoeff
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MQRankSum
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FS
type: SiteQuality
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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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East Asian
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South Asian
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Latino
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European (Finnish)
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European (Non-Finnish)
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allele num: 66738
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Other
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African
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VQSLOD
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BaseQRankSum
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DP
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QD
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InbreedingCoeff
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MQRankSum
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FS
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MQ
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
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South Asian
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East Asian
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allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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Other
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MQRankSum
type: SiteQuality
SIO_000300: -2.28e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.188e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.735e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.0e-3

DP
type: SiteQuality
SIO_000300: 4.750455e6

MQ
type: SiteQuality
SIO_000300: 5.949e1

FS
type: SiteQuality
SIO_000300: 6.516e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.59e-1

QD
type: SiteQuality
SIO_000300: 1.888e1

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6638
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2041
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48459
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 584
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 8.75e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 7
allele frequency: 4.239341085271318e-4
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.224e0

MQRankSum
type: SiteQuality
SIO_000300: 5.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.192e0

FS
type: SiteQuality
SIO_000300: 7.102e0

QD
type: SiteQuality
SIO_000300: 1.508e1

MQ
type: SiteQuality
SIO_000300: 5.987e1

DP
type: SiteQuality
SIO_000300: 4.75102e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.73e0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 4

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 4

GenotypeQuality
all individuals: 4
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 2

GenotypeQuality
all individuals: 776
bin: 7.75e1
variant carriers: 13

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 9

GenotypeQuality
all individuals: 610
bin: 7.25e1
variant carriers: 12

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 11

GenotypeQuality
all individuals: 210
bin: 8.75e1
variant carriers: 17

GenotypeQuality
all individuals: 6178
bin: 6.25e1
variant carriers: 7

GenotypeQuality
all individuals: 520
bin: 8.25e1
variant carriers: 17

African
type: Population
allele count: 6217
allele frequency: 5.975586312956556e-1
allele num: 10404
num of homozygotes: 1876

European (Non-Finnish)
type: Population
allele count: 35127
allele frequency: 5.264522510640849e-1
allele num: 66724
num of homozygotes: 9258

Latino
type: Population
allele count: 6764
allele frequency: 5.848175687359501e-1
allele num: 11566
num of homozygotes: 1993

East Asian
type: Population
allele count: 6727
allele frequency: 7.77867715078631e-1
allele num: 8648
num of homozygotes: 2616

European (Finnish)
type: Population
allele count: 3554
allele frequency: 5.37995761429004e-1
allele num: 6606
num of homozygotes: 971

Other
type: Population
allele count: 465
allele frequency: 5.12114537444934e-1
allele num: 908
num of homozygotes: 120

South Asian
type: Population
allele count: 9281
allele frequency: 5.620760658914729e-1
allele num: 16512
num of homozygotes: 2645

BaseQRankSum
type: SiteQuality
SIO_000300: -1.296e0

FS
type: SiteQuality
SIO_000300: 1.114e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.5e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.41e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.88e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.53e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

DP
type: SiteQuality
SIO_000300: 5.754396e6

QD
type: SiteQuality
SIO_000300: 2.107e1

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 414
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 967
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6316
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 742
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1896
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 4.851345e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.54e-2

QD
type: SiteQuality
SIO_000300: 1.523e1

VQSLOD
type: SiteQuality
SIO_000300: -3.855e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.63e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.3e-1

FS
type: SiteQuality
SIO_000300: 1.139e0

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

GenotypeQuality
all individuals: 967
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1896
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 48828
bin: 9.75e1
variant carriers: 22

GenotypeQuality
all individuals: 803
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6321
bin: 6.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.817080557238038e-4
allele num: 16510
num of homozygotes: 0

East Asian
type: Population
allele count: 12
allele frequency: 1.386642015253062e-3
allele num: 8654
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 8.990649724286742e-5
allele num: 66736
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.16e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.88e0

QD
type: SiteQuality
SIO_000300: 1.357e1

MQ
type: SiteQuality
SIO_000300: 5.946e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.288e0

FS
type: SiteQuality
SIO_000300: 1.125e0

MQRankSum
type: SiteQuality
SIO_000300: 2.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 4.851169e6

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 15
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 1894
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 803
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 3.72e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

DP
type: SiteQuality
SIO_000300: 4.850722e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.073e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.2e-1

FS
type: SiteQuality
SIO_000300: 6.38e-1

QD
type: SiteQuality
SIO_000300: 1.43e1

MQRankSum
type: SiteQuality
SIO_000300: -3.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 2

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 3

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 8

GenotypeQuality
all individuals: 6188
bin: 6.25e1
variant carriers: 16

GenotypeQuality
all individuals: 792
bin: 7.75e1
variant carriers: 29

GenotypeQuality
all individuals: 614
bin: 7.25e1
variant carriers: 17

GenotypeQuality
all individuals: 23
bin: 5.25e1
variant carriers: 18

GenotypeQuality
all individuals: 13
bin: 3.25e1
variant carriers: 9

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 10

GenotypeQuality
all individuals: 317
bin: 9.25e1
variant carriers: 57

GenotypeQuality
all individuals: 537
bin: 8.25e1
variant carriers: 36

Latino
type: Population
allele count: 6757
allele frequency: 5.84717895465559e-1
allele num: 11556
num of homozygotes: 1991

African
type: Population
allele count: 6217
allele frequency: 5.975586312956556e-1
allele num: 10404
num of homozygotes: 1876

European (Non-Finnish)
type: Population
allele count: 35115
allele frequency: 5.263512905836856e-1
allele num: 66714
num of homozygotes: 9252

European (Finnish)
type: Population
allele count: 3556
allele frequency: 5.382985165001514e-1
allele num: 6606
num of homozygotes: 972

Other
type: Population
allele count: 465
allele frequency: 5.132450331125827e-1
allele num: 906
num of homozygotes: 120

East Asian
type: Population
allele count: 6729
allele frequency: 7.780989824236818e-1
allele num: 8648
num of homozygotes: 2617

South Asian
type: Population
allele count: 9280
allele frequency: 5.62083585705633e-1
allele num: 16510
num of homozygotes: 2645

QD
type: SiteQuality
SIO_000300: 2.174e1

MQ
type: SiteQuality
SIO_000300: 5.967e1

DP
type: SiteQuality
SIO_000300: 4.89913e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.15e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.54e0

VQSLOD
type: SiteQuality
SIO_000300: 5.32e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.41e-2

GenotypeQuality
all individuals: 1945
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4545
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1317
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 3232
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.466605038132656e-4
allele num: 8654
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66706
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -7.6e-1

QD
type: SiteQuality
SIO_000300: 1.718e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.087e0

VQSLOD
type: SiteQuality
SIO_000300: -1.054e-1

FS
type: SiteQuality
SIO_000300: 1.199e0

DP
type: SiteQuality
SIO_000300: 2.132102e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.3e-2

GenotypeQuality
all individuals: 8827
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1945
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4545
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
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GenotypeQuality
all individuals: 26649
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variant carriers: 0

GenotypeQuality
all individuals: 3246
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variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

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

GenotypeQuality
all individuals: 1315
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66708
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.957e1

VQSLOD
type: SiteQuality
SIO_000300: 2.78e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.83e-1

FS
type: SiteQuality
SIO_000300: 5.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 6.24e-1

DP
type: SiteQuality
SIO_000300: 2.131845e6

QD
type: SiteQuality
SIO_000300: 1.432e1

MQRankSum
type: SiteQuality
SIO_000300: -7.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.72e-1

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

GenotypeQuality
all individuals: 8827
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26649
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 3232
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 44
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1315
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10818
bin: 9.75e1
variant carriers: 5

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

GenotypeQuality
all individuals: 1945
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 3
allele frequency: 2.883506343713956e-4
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998141152485459e-5
allele num: 66708
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 6.24e-1

DP
type: SiteQuality
SIO_000300: 2.131845e6

FS
type: SiteQuality
SIO_000300: 5.49e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.78e0

MQRankSum
type: SiteQuality
SIO_000300: -7.6e-2

MQ
type: SiteQuality
SIO_000300: 5.957e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.83e-1

QD
type: SiteQuality
SIO_000300: 1.432e1

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

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

GenotypeQuality
all individuals: 10812
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 3231
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4544
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26662
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1314
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998590662388677e-5
allele num: 66698
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.969e1

FS
type: SiteQuality
SIO_000300: 1.166e0

DP
type: SiteQuality
SIO_000300: 2.131537e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.14e-1

QD
type: SiteQuality
SIO_000300: 1.377e1

VQSLOD
type: SiteQuality
SIO_000300: 2.88e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.353e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.55e-1

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

GenotypeQuality
all individuals: 8
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 26662
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1945
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8823
bin: 6.75e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 4544
bin: 7.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.55e-1

DP
type: SiteQuality
SIO_000300: 2.131537e6

FS
type: SiteQuality
SIO_000300: 1.166e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.377e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.353e0

VQSLOD
type: SiteQuality
SIO_000300: 2.88e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.14e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

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

GenotypeQuality
all individuals: 26668
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3243
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8821
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1314
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10805
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1944
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4545
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.49e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

MQRankSum
type: SiteQuality
SIO_000300: 7.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.759e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.44e0

VQSLOD
type: SiteQuality
SIO_000300: 4.19e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.130984e6

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1943
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 7.5e0
variant carriers: 0