4-44690116-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44690116
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 44690116
    reference: chr 4
allele count: 1
allele frequency: 8.243751236562685e-6
allele num: 121304
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000281543
  ensembl transcript: ENST00000281543
  gene symbol: GUF1
  hgvsc: ENST00000281543.5:c.1031T>G
  hgvsp: ENSP00000281543.5:p.Val344Gly
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000422681
  ensembl transcript: ENST00000513775
  gene symbol: GUF1
  hgvsc: ENST00000513775.1:c.*622T>G
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000476853
  ensembl transcript: ENST00000609092
  gene symbol: GNPDA2
  hgvsc: ENST00000609092.1:c.247-5457A>C
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151806
  ensembl transcript: ENST00000506793
  gene symbol: GUF1
  hgvsc: ENST00000506793.1:n.913T>G
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000477137
  ensembl transcript: ENST00000608855
  gene symbol: GNPDA2
  hgvsc: ENST00000608855.1:c.128-5457A>C
  variant of: http://identifiers.org/hgnc/21526
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7008
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3709
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9385
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6489
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7010
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2592
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5173
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6304
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2550
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10743
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2677
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35913
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2708
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val344Gly
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD

4-44690121-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44690121
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 44690121
    reference: chr 4
allele count: 2
allele frequency: 1.648886177387175e-5
allele num: 121294
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000281543
  ensembl transcript: ENST00000281543
  gene symbol: GUF1
  hgvsc: ENST00000281543.5:c.1036C>T
  hgvsp: ENSP00000281543.5:p.Pro346Ser
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000422681
  ensembl transcript: ENST00000513775
  gene symbol: GUF1
  hgvsc: ENST00000513775.1:c.*627C>T
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151806
  ensembl transcript: ENST00000506793
  gene symbol: GUF1
  hgvsc: ENST00000506793.1:n.918C>T
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000477137
  ensembl transcript: ENST00000608855
  gene symbol: GNPDA2
  hgvsc: ENST00000608855.1:c.128-5462G>A
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000476853
  ensembl transcript: ENST00000609092
  gene symbol: GNPDA2
  hgvsc: ENST00000609092.1:c.247-5462G>A
  variant of: http://identifiers.org/hgnc/21526
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2592
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7005
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7010
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3709
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9372
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6489
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5173
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6311
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2750
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35914
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1677
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1566
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10723
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro346Ser
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

4-44690122-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44690122
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 44690122
    reference: chr 4
allele count: 1
allele frequency: 8.244566830458728e-6
allele num: 121292
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000476853
  ensembl transcript: ENST00000609092
  gene symbol: GNPDA2
  hgvsc: ENST00000609092.1:c.247-5463G>C
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000477137
  ensembl transcript: ENST00000608855
  gene symbol: GNPDA2
  hgvsc: ENST00000608855.1:c.128-5463G>C
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000422681
  ensembl transcript: ENST00000513775
  gene symbol: GUF1
  hgvsc: ENST00000513775.1:c.*628C>G
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000281543
  ensembl transcript: ENST00000281543
  gene symbol: GUF1
  hgvsc: ENST00000281543.5:c.1037C>G
  hgvsp: ENSP00000281543.5:p.Pro346Arg
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151806
  ensembl transcript: ENST00000506793
  gene symbol: GUF1
  hgvsc: ENST00000506793.1:n.919C>G
  variant of: http://identifiers.org/hgnc/25799
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7008
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9368
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2592
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6490
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5173
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6310
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7007
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3709
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2706
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1678
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2550
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro346Arg
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

4-44690122-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44690122
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 44690122
    reference: chr 4
allele count: 1
allele frequency: 8.244566830458728e-6
allele num: 121292
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000422681
  ensembl transcript: ENST00000513775
  gene symbol: GUF1
  hgvsc: ENST00000513775.1:c.*628C>T
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000476853
  ensembl transcript: ENST00000609092
  gene symbol: GNPDA2
  hgvsc: ENST00000609092.1:c.247-5463G>A
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000281543
  ensembl transcript: ENST00000281543
  gene symbol: GUF1
  hgvsc: ENST00000281543.5:c.1037C>T
  hgvsp: ENSP00000281543.5:p.Pro346Leu
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000477137
  ensembl transcript: ENST00000608855
  gene symbol: GNPDA2
  hgvsc: ENST00000608855.1:c.128-5463G>A
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151806
  ensembl transcript: ENST00000506793
  gene symbol: GUF1
  hgvsc: ENST00000506793.1:n.919C>T
  variant of: http://identifiers.org/hgnc/25799
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6490
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2592
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7007
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5173
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9368
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6310
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7008
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3709
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2677
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2706
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1678
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2750
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10721
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1566
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro346Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum

4-44690127-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44690127
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 44690127
    reference: chr 4
allele count: 13
allele frequency: 1.071917412886096e-4
allele num: 121278
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000477137
  ensembl transcript: ENST00000608855
  gene symbol: GNPDA2
  hgvsc: ENST00000608855.1:c.128-5468G>A
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000281543
  ensembl transcript: ENST00000281543
  gene symbol: GUF1
  hgvsc: ENST00000281543.5:c.1042C>T
  hgvsp: ENSP00000281543.5:p.Pro348Ser
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000476853
  ensembl transcript: ENST00000609092
  gene symbol: GNPDA2
  hgvsc: ENST00000609092.1:c.247-5468G>A
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000422681
  ensembl transcript: ENST00000513775
  gene symbol: GUF1
  hgvsc: ENST00000513775.1:c.*633C>T
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151806
  ensembl transcript: ENST00000506793
  gene symbol: GUF1
  hgvsc: ENST00000506793.1:n.924C>T
  variant of: http://identifiers.org/hgnc/25799
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3708
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6255
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2593
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6317
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5172
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7007
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7007
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6496
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2551
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2676
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2750
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1563
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro348Ser
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP

4-44690128-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44690128
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 44690128
    reference: chr 4
allele count: 2
allele frequency: 1.649130908011478e-5
allele num: 121276
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000476853
  ensembl transcript: ENST00000609092
  gene symbol: GNPDA2
  hgvsc: ENST00000609092.1:c.247-5469G>A
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000281543
  ensembl transcript: ENST00000281543
  gene symbol: GUF1
  hgvsc: ENST00000281543.5:c.1043C>T
  hgvsp: ENSP00000281543.5:p.Pro348Leu
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151806
  ensembl transcript: ENST00000506793
  gene symbol: GUF1
  hgvsc: ENST00000506793.1:n.925C>T
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000477137
  ensembl transcript: ENST00000608855
  gene symbol: GNPDA2
  hgvsc: ENST00000608855.1:c.128-5469G>A
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000422681
  ensembl transcript: ENST00000513775
  gene symbol: GUF1
  hgvsc: ENST00000513775.1:c.*634C>T
  variant of: http://identifiers.org/hgnc/25799
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3707
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6501
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6319
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1776
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7009
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7005
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9333
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2592
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5172
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35917
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2700
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10708
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1677
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2551
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2677
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1563
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro348Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

4-44690131-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44690131
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 44690131
    reference: chr 4
allele count: 1
allele frequency: 8.247286642694553e-6
allele num: 121252
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000422681
  ensembl transcript: ENST00000513775
  gene symbol: GUF1
  hgvsc: ENST00000513775.1:c.*637G>A
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000281543
  ensembl transcript: ENST00000281543
  gene symbol: GUF1
  hgvsc: ENST00000281543.5:c.1046G>A
  hgvsp: ENSP00000281543.5:p.Gly349Glu
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000477137
  ensembl transcript: ENST00000608855
  gene symbol: GNPDA2
  hgvsc: ENST00000608855.1:c.128-5472C>T
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151806
  ensembl transcript: ENST00000506793
  gene symbol: GUF1
  hgvsc: ENST00000506793.1:n.928G>A
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000476853
  ensembl transcript: ENST00000609092
  gene symbol: GNPDA2
  hgvsc: ENST00000609092.1:c.247-5472C>T
  variant of: http://identifiers.org/hgnc/21526
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6499
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5172
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7007
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6324
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9316
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3707
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6255
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2592
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1776
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2750
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10693
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genotype quality: GenotypeQuality
  all individuals: 2692
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genotype quality: GenotypeQuality
  all individuals: 2676
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2550
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly349Glu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD

4-44690132-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44690132
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 44690132
    reference: chr 4
allele count: 1
allele frequency: 8.247014580721778e-6
allele num: 121256
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000422681
  ensembl transcript: ENST00000513775
  gene symbol: GUF1
  hgvsc: ENST00000513775.1:c.*638G>C
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000281543
  ensembl transcript: ENST00000281543
  gene symbol: GUF1
  hgvsc: ENST00000281543.5:c.1047G>C
  hgvsp: ENST00000281543.5:c.1047G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000476853
  ensembl transcript: ENST00000609092
  gene symbol: GNPDA2
  hgvsc: ENST00000609092.1:c.247-5473C>G
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151806
  ensembl transcript: ENST00000506793
  gene symbol: GUF1
  hgvsc: ENST00000506793.1:n.929G>C
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000477137
  ensembl transcript: ENST00000608855
  gene symbol: GNPDA2
  hgvsc: ENST00000608855.1:c.128-5473C>G
  variant of: http://identifiers.org/hgnc/21526
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6496
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6327
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5172
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7008
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7008
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9302
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1776
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2592
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35918
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1565
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2676
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10674
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly349Gly
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

4-44690139-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44690139
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 44690139
    reference: chr 4
allele count: 1
allele frequency: 8.252050634582693e-6
allele num: 121182
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000477137
  ensembl transcript: ENST00000608855
  gene symbol: GNPDA2
  hgvsc: ENST00000608855.1:c.128-5480A>G
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000281543
  ensembl transcript: ENST00000281543
  gene symbol: GUF1
  hgvsc: ENST00000281543.5:c.1054T>C
  hgvsp: ENSP00000281543.5:p.Ser352Pro
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000422681
  ensembl transcript: ENST00000513775
  gene symbol: GUF1
  hgvsc: ENST00000513775.1:c.*645T>C
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000476853
  ensembl transcript: ENST00000609092
  gene symbol: GNPDA2
  hgvsc: ENST00000609092.1:c.247-5480A>G
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151806
  ensembl transcript: ENST00000506793
  gene symbol: GUF1
  hgvsc: ENST00000506793.1:n.936T>C
  variant of: http://identifiers.org/hgnc/25799
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2592
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3707
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6313
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6493
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6256
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7008
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7010
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9235
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1776
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2686
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2748
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1569
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1677
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser352Pro
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

4-44690143-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44690143
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 44690143
    reference: chr 4
allele count: 6
allele frequency: 4.953601268121925e-5
allele num: 121124
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000281543
  ensembl transcript: ENST00000281543
  gene symbol: GUF1
  hgvsc: ENST00000281543.5:c.1058C>T
  hgvsp: ENSP00000281543.5:p.Ala353Val
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000477137
  ensembl transcript: ENST00000608855
  gene symbol: GNPDA2
  hgvsc: ENST00000608855.1:c.128-5484G>A
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000422681
  ensembl transcript: ENST00000513775
  gene symbol: GUF1
  hgvsc: ENST00000513775.1:c.*649C>T
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151806
  ensembl transcript: ENST00000506793
  gene symbol: GUF1
  hgvsc: ENST00000506793.1:n.940C>T
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000476853
  ensembl transcript: ENST00000609092
  gene symbol: GNPDA2
  hgvsc: ENST00000609092.1:c.247-5484G>A
  variant of: http://identifiers.org/hgnc/21526
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1620
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9152
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7016
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6501
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6308
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2592
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3708
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7017
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6261
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1776
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10489
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35920
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 2543
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1677
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2675
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2676
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala353Val
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

4-44690144-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44690144
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 44690144
    reference: chr 4
allele count: 6
allele frequency: 4.954501164307774e-5
allele num: 121102
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000477137
  ensembl transcript: ENST00000608855
  gene symbol: GNPDA2
  hgvsc: ENST00000608855.1:c.128-5485C>T
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000422681
  ensembl transcript: ENST00000513775
  gene symbol: GUF1
  hgvsc: ENST00000513775.1:c.*650G>A
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000281543
  ensembl transcript: ENST00000281543
  gene symbol: GUF1
  hgvsc: ENST00000281543.5:c.1059G>A
  hgvsp: ENST00000281543.5:c.1059G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000476853
  ensembl transcript: ENST00000609092
  gene symbol: GNPDA2
  hgvsc: ENST00000609092.1:c.247-5485C>T
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151806
  ensembl transcript: ENST00000506793
  gene symbol: GUF1
  hgvsc: ENST00000506793.1:n.941G>A
  variant of: http://identifiers.org/hgnc/25799
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6318
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3707
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5173
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2592
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9114
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7013
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7008
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6498
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1561
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1678
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2747
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10446
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2542
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala353Ala
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

4-44690151-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44690151
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 44690151
    reference: chr 4
allele count: 4
allele frequency: 3.304911097891467e-5
allele num: 121032
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151806
  ensembl transcript: ENST00000506793
  gene symbol: GUF1
  hgvsc: ENST00000506793.1:n.948A>G
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000422681
  ensembl transcript: ENST00000513775
  gene symbol: GUF1
  hgvsc: ENST00000513775.1:c.*657A>G
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000281543
  ensembl transcript: ENST00000281543
  gene symbol: GUF1
  hgvsc: ENST00000281543.5:c.1066A>G
  hgvsp: ENSP00000281543.5:p.Met356Val
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000477137
  ensembl transcript: ENST00000608855
  gene symbol: GNPDA2
  hgvsc: ENST00000608855.1:c.128-5492T>C
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000476853
  ensembl transcript: ENST00000609092
  gene symbol: GNPDA2
  hgvsc: ENST00000609092.1:c.247-5492T>C
  variant of: http://identifiers.org/hgnc/21526
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8942
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6255
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7007
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3707
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6491
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6335
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5173
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7009
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2592
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1677
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1562
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35924
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2545
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10284
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Met356Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

4-44690152-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44690152
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 44690152
    reference: chr 4
allele count: 2
allele frequency: 1.652783287055401e-5
allele num: 121008
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151806
  ensembl transcript: ENST00000506793
  gene symbol: GUF1
  hgvsc: ENST00000506793.1:n.949T>C
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000281543
  ensembl transcript: ENST00000281543
  gene symbol: GUF1
  hgvsc: ENST00000281543.5:c.1067T>C
  hgvsp: ENSP00000281543.5:p.Met356Thr
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000422681
  ensembl transcript: ENST00000513775
  gene symbol: GUF1
  hgvsc: ENST00000513775.1:c.*658T>C
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000477137
  ensembl transcript: ENST00000608855
  gene symbol: GNPDA2
  hgvsc: ENST00000608855.1:c.128-5493A>G
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000476853
  ensembl transcript: ENST00000609092
  gene symbol: GNPDA2
  hgvsc: ENST00000609092.1:c.247-5493A>G
  variant of: http://identifiers.org/hgnc/21526
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2593
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8905
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1779
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6493
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7007
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3707
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7007
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6331
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1562
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1677
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2684
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10253
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Met356Thr
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

4-44690167-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44690167
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 44690167
    reference: chr 4
allele count: 3
allele frequency: 2.486984779653149e-5
allele num: 120628
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000281543
  ensembl transcript: ENST00000281543
  gene symbol: GUF1
  hgvsc: ENST00000281543.5:c.1078+4A>G
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl transcript: ENST00000506793
  gene symbol: GUF1
  hgvsc: ENST00000506793.1:n.960+4A>G
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000422681
  ensembl transcript: ENST00000513775
  gene symbol: GUF1
  hgvsc: ENST00000513775.1:c.*669+4A>G
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000476853
  ensembl transcript: ENST00000609092
  gene symbol: GNPDA2
  hgvsc: ENST00000609092.1:c.247-5508T>C
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000477137
  ensembl transcript: ENST00000608855
  gene symbol: GNPDA2
  hgvsc: ENST00000608855.1:c.128-5508T>C
  variant of: http://identifiers.org/hgnc/21526
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6223
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5173
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8309
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7001
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3707
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6440
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2593
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7006
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1556
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2669
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2611
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2525
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1676
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2746
  bin: 9.25e1
  variant carriers: 0
hgvs: c.1078+4A>G
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
reference allele: A
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

4-44690170-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44690170
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 44690170
    reference: chr 4
allele count: 3
allele frequency: 2.488016055996948e-5
allele num: 120578
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000476853
  ensembl transcript: ENST00000609092
  gene symbol: GNPDA2
  hgvsc: ENST00000609092.1:c.247-5511T>C
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000281543
  ensembl transcript: ENST00000281543
  gene symbol: GUF1
  hgvsc: ENST00000281543.5:c.1078+7A>G
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000422681
  ensembl transcript: ENST00000513775
  gene symbol: GUF1
  hgvsc: ENST00000513775.1:c.*669+7A>G
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl transcript: ENST00000506793
  gene symbol: GUF1
  hgvsc: ENST00000506793.1:n.960+7A>G
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000477137
  ensembl transcript: ENST00000608855
  gene symbol: GNPDA2
  hgvsc: ENST00000608855.1:c.128-5511T>C
  variant of: http://identifiers.org/hgnc/21526
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8258
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7000
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3708
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6427
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6187
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7003
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2593
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2611
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1676
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2746
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2530
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35926
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2669
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9413
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 2.25e1
  variant carriers: 0
hgvs: c.1078+7A>G
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/4-44690182-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44690182
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 44690181
    reference: chr 4
allele count: 1
allele frequency: 8.319467554076538e-6
allele num: 120200
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000422681
  ensembl transcript: ENST00000513775
  gene symbol: GUF1
  hgvsc: ENST00000513775.1:c.*669+22delA
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl transcript: ENST00000506793
  gene symbol: GUF1
  hgvsc: ENST00000506793.1:n.960+22delA
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000477137
  ensembl transcript: ENST00000608855
  gene symbol: GNPDA2
  hgvsc: ENST00000608855.1:c.128-5524delT
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000476853
  ensembl transcript: ENST00000609092
  gene symbol: GNPDA2
  hgvsc: ENST00000609092.1:c.247-5524delT
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000281543
  ensembl transcript: ENST00000281543
  gene symbol: GUF1
  hgvsc: ENST00000281543.5:c.1078+22delA
  variant of: http://identifiers.org/hgnc/25799
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7001
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6097
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2593
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7231
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5173
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1781
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3708
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6412
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1254
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2663
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2516
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8334
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2524
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35926
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1533
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: CA
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ

4-44690189-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44690189
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 44690189
    reference: chr 4
allele count: 2
allele frequency: 1.666861133798943e-5
allele num: 119986
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000477137
  ensembl transcript: ENST00000608855
  gene symbol: GNPDA2
  hgvsc: ENST00000608855.1:c.128-5530A>G
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000476853
  ensembl transcript: ENST00000609092
  gene symbol: GNPDA2
  hgvsc: ENST00000609092.1:c.247-5530A>G
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000281543
  ensembl transcript: ENST00000281543
  gene symbol: GUF1
  hgvsc: ENST00000281543.5:c.1078+26T>C
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl transcript: ENST00000506793
  gene symbol: GUF1
  hgvsc: ENST00000506793.1:n.960+26T>C
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000422681
  ensembl transcript: ENST00000513775
  gene symbol: GUF1
  hgvsc: ENST00000513775.1:c.*669+26T>C
  variant of: http://identifiers.org/hgnc/25799
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6993
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5774
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6250
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3708
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6370
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2593
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5173
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7002
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2746
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7016
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1677
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2662
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1538
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1527
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

4-44690193-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44690193
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 44690193
    reference: chr 4
allele count: 1
allele frequency: 8.34125752798492e-6
allele num: 119886
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000281543
  ensembl transcript: ENST00000281543
  gene symbol: GUF1
  hgvsc: ENST00000281543.5:c.1078+30G>A
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl transcript: ENST00000506793
  gene symbol: GUF1
  hgvsc: ENST00000506793.1:n.960+30G>A
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000476853
  ensembl transcript: ENST00000609092
  gene symbol: GNPDA2
  hgvsc: ENST00000609092.1:c.247-5534C>T
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000422681
  ensembl transcript: ENST00000513775
  gene symbol: GUF1
  hgvsc: ENST00000513775.1:c.*669+30G>A
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000477137
  ensembl transcript: ENST00000608855
  gene symbol: GNPDA2
  hgvsc: ENST00000608855.1:c.128-5534C>T
  variant of: http://identifiers.org/hgnc/21526
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2592
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2292
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7001
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6016
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5662
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3708
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6985
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6339
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5173
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 983
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1562
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2445
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2746
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2511
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
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genotype quality: GenotypeQuality
  all individuals: 41
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2662
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 671
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/4-44690197-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44690197
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 44690197
    reference: chr 4
allele count: 1
allele frequency: 8.351567589236499e-6
allele num: 119738
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000476853
  ensembl transcript: ENST00000609092
  gene symbol: GNPDA2
  hgvsc: ENST00000609092.1:c.247-5538T>G
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000281543
  ensembl transcript: ENST00000281543
  gene symbol: GUF1
  hgvsc: ENST00000281543.5:c.1078+34A>C
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000477137
  ensembl transcript: ENST00000608855
  gene symbol: GNPDA2
  hgvsc: ENST00000608855.1:c.128-5538T>G
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl transcript: ENST00000506793
  gene symbol: GUF1
  hgvsc: ENST00000506793.1:n.960+34A>C
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000422681
  ensembl transcript: ENST00000513775
  gene symbol: GUF1
  hgvsc: ENST00000513775.1:c.*669+34A>C
  variant of: http://identifiers.org/hgnc/25799
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5611
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5541
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6999
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6316
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3707
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5173
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2409
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6250
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2592
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6972
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6192
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1617
  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: Latino
population: South Asian
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP

4-44690197-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44690197
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 44690197
    reference: chr 4
allele count: 1
allele frequency: 8.351567589236499e-6
allele num: 119738
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000477137
  ensembl transcript: ENST00000608855
  gene symbol: GNPDA2
  hgvsc: ENST00000608855.1:c.128-5538T>A
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000422681
  ensembl transcript: ENST00000513775
  gene symbol: GUF1
  hgvsc: ENST00000513775.1:c.*669+34A>T
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000281543
  ensembl transcript: ENST00000281543
  gene symbol: GUF1
  hgvsc: ENST00000281543.5:c.1078+34A>T
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl transcript: ENST00000506793
  gene symbol: GUF1
  hgvsc: ENST00000506793.1:n.960+34A>T
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000476853
  ensembl transcript: ENST00000609092
  gene symbol: GNPDA2
  hgvsc: ENST00000609092.1:c.247-5538T>A
  variant of: http://identifiers.org/hgnc/21526
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6316
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5173
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6250
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5611
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2409
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5541
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6192
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35926
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2746
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1617
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2412
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

4-44690200-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44690200
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 44690200
    reference: chr 4
allele count: 10
allele frequency: 8.361064196250898e-5
allele num: 119602
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000422681
  ensembl transcript: ENST00000513775
  gene symbol: GUF1
  hgvsc: ENST00000513775.1:c.*669+37A>G
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000476853
  ensembl transcript: ENST00000609092
  gene symbol: GNPDA2
  hgvsc: ENST00000609092.1:c.247-5541T>C
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000281543
  ensembl transcript: ENST00000281543
  gene symbol: GUF1
  hgvsc: ENST00000281543.5:c.1078+37A>G
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000477137
  ensembl transcript: ENST00000608855
  gene symbol: GNPDA2
  hgvsc: ENST00000608855.1:c.128-5541T>C
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl transcript: ENST00000506793
  gene symbol: GUF1
  hgvsc: ENST00000506793.1:n.960+37A>G
  variant of: http://identifiers.org/hgnc/25799
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5174
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2403
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6248
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5453
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2592
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3708
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 780
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5393
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6968
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6278
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 6994
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1781
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1516
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 93
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1162
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5816
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2510
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1563
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 289
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genotype quality: GenotypeQuality
  all individuals: 2397
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35929
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS

4-44690208-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44690208
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 44690208
    reference: chr 4
allele count: 1
allele frequency: 8.382651264942076e-6
allele num: 119294
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000422681
  ensembl transcript: ENST00000513775
  gene symbol: GUF1
  hgvsc: ENST00000513775.1:c.*669+45A>G
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000477137
  ensembl transcript: ENST00000608855
  gene symbol: GNPDA2
  hgvsc: ENST00000608855.1:c.128-5549T>C
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl transcript: ENST00000506793
  gene symbol: GUF1
  hgvsc: ENST00000506793.1:n.960+45A>G
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000476853
  ensembl transcript: ENST00000609092
  gene symbol: GNPDA2
  hgvsc: ENST00000609092.1:c.247-5549T>C
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000281543
  ensembl transcript: ENST00000281543
  gene symbol: GUF1
  hgvsc: ENST00000281543.5:c.1078+45A>G
  variant of: http://identifiers.org/hgnc/25799
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5172
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6970
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2345
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5294
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6249
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6996
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6252
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1781
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2592
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5318
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3707
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 958
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1508
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
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genotype quality: GenotypeQuality
  all individuals: 467
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genotype quality: GenotypeQuality
  all individuals: 2508
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1180
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 164
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genotype quality: GenotypeQuality
  all individuals: 127
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genotype quality: GenotypeQuality
  all individuals: 2390
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1676
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5342
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

4-44690211-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44690211
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 44690211
    reference: chr 4
allele count: 1
allele frequency: 8.398703240219711e-6
allele num: 119066
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000422681
  ensembl transcript: ENST00000513775
  gene symbol: GUF1
  hgvsc: ENST00000513775.1:c.*669+48C>G
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000476853
  ensembl transcript: ENST00000609092
  gene symbol: GNPDA2
  hgvsc: ENST00000609092.1:c.247-5552G>C
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000477137
  ensembl transcript: ENST00000608855
  gene symbol: GNPDA2
  hgvsc: ENST00000608855.1:c.128-5552G>C
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl transcript: ENST00000506793
  gene symbol: GUF1
  hgvsc: ENST00000506793.1:n.960+48C>G
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000281543
  ensembl transcript: ENST00000281543
  gene symbol: GUF1
  hgvsc: ENST00000281543.5:c.1078+48C>G
  variant of: http://identifiers.org/hgnc/25799
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5268
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5356
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6967
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6998
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5172
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1781
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2592
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3708
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2316
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2661
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

4-44691261-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44691261
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 44691261
    reference: chr 4
allele count: 3
allele frequency: 2.607607259578611e-5
allele num: 115048
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl transcript: ENST00000506793
  gene symbol: GUF1
  hgvsc: ENST00000506793.1:n.961-42G>T
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000281543
  ensembl transcript: ENST00000281543
  gene symbol: GUF1
  hgvsc: ENST00000281543.5:c.1079-42G>T
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000422681
  ensembl transcript: ENST00000513775
  gene symbol: GUF1
  hgvsc: ENST00000513775.1:c.*670-42G>T
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000476853
  ensembl transcript: ENST00000609092
  gene symbol: GNPDA2
  hgvsc: ENST00000609092.1:c.247-6602C>A
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000477137
  ensembl transcript: ENST00000608855
  gene symbol: GNPDA2
  hgvsc: ENST00000608855.1:c.128-6602C>A
  variant of: http://identifiers.org/hgnc/21526
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1861
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4839
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5713
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4862
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5299
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 929
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2158
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2176
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4735
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

4-44691269-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44691269
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 44691269
    reference: chr 4
allele count: 1
allele frequency: 8.670770831526923e-6
allele num: 115330
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000422681
  ensembl transcript: ENST00000513775
  gene symbol: GUF1
  hgvsc: ENST00000513775.1:c.*670-34A>G
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000281543
  ensembl transcript: ENST00000281543
  gene symbol: GUF1
  hgvsc: ENST00000281543.5:c.1079-34A>G
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000476853
  ensembl transcript: ENST00000609092
  gene symbol: GNPDA2
  hgvsc: ENST00000609092.1:c.247-6610T>C
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000477137
  ensembl transcript: ENST00000608855
  gene symbol: GNPDA2
  hgvsc: ENST00000608855.1:c.128-6610T>C
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl transcript: ENST00000506793
  gene symbol: GUF1
  hgvsc: ENST00000506793.1:n.961-34A>G
  variant of: http://identifiers.org/hgnc/25799
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2638
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5615
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4835
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4345
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3115
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4862
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5715
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5294
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2858
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3765
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2358
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1326
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 760
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37805
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2511
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2171
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2150
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

4-44691273-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44691273
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 44691273
    reference: chr 4
allele count: 579
allele frequency: 5.016983224733121e-3
allele num: 115408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000422681
  ensembl transcript: ENST00000513775
  gene symbol: GUF1
  hgvsc: ENST00000513775.1:c.*670-30C>T
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000281543
  ensembl transcript: ENST00000281543
  gene symbol: GUF1
  hgvsc: ENST00000281543.5:c.1079-30C>T
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl transcript: ENST00000506793
  gene symbol: GUF1
  hgvsc: ENST00000506793.1:n.961-30C>T
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000477137
  ensembl transcript: ENST00000608855
  gene symbol: GNPDA2
  hgvsc: ENST00000608855.1:c.128-6614G>A
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000476853
  ensembl transcript: ENST00000609092
  gene symbol: GNPDA2
  hgvsc: ENST00000609092.1:c.247-6614G>A
  variant of: http://identifiers.org/hgnc/21526
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2572
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4348
  bin: 3.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 8.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 8.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 3773
  bin: 6.75e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5609
  bin: 5.25e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 4816
  bin: 3.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 4856
  bin: 6.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 9.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 5276
  bin: 4.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 3172
  bin: 9.75e1
  variant carriers: 89
genotype depth: GenotypeDepth
  all individuals: 5579
  bin: 5.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 2231
  bin: 1.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 7.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 5692
  bin: 4.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 2681
  bin: 7.25e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 2880
  bin: 2.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2135
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2557
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 2158
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1315
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 522
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 7.25e1
  variant carriers: 1
num of homozygotes: 5
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

4-44691274-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44691274
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 44691274
    reference: chr 4
allele count: 1
allele frequency: 8.650968043324048e-6
allele num: 115594
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000422681
  ensembl transcript: ENST00000513775
  gene symbol: GUF1
  hgvsc: ENST00000513775.1:c.*670-29G>A
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000476853
  ensembl transcript: ENST00000609092
  gene symbol: GNPDA2
  hgvsc: ENST00000609092.1:c.247-6615C>T
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000477137
  ensembl transcript: ENST00000608855
  gene symbol: GNPDA2
  hgvsc: ENST00000608855.1:c.128-6615C>T
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl transcript: ENST00000506793
  gene symbol: GUF1
  hgvsc: ENST00000506793.1:n.961-29G>A
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000281543
  ensembl transcript: ENST00000281543
  gene symbol: GUF1
  hgvsc: ENST00000281543.5:c.1079-29G>A
  variant of: http://identifiers.org/hgnc/25799
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2922
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3110
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5588
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4834
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5293
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4377
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4864
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5624
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1859
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5712
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3772
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2550
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2593
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1329
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 240
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
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genotype quality: GenotypeQuality
  all individuals: 154
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2162
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2362
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

4-44691276-GATAAT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44691276
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 44691271
    reference: chr 4
allele count: 1
allele frequency: 8.640503222907702e-6
allele num: 115734
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000281543
  ensembl transcript: ENST00000281543
  gene symbol: GUF1
  hgvsc: ENST00000281543.5:c.1079-26_1079-22delATAAT
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000477137
  ensembl transcript: ENST00000608855
  gene symbol: GNPDA2
  hgvsc: ENST00000608855.1:c.128-6622_128-6618delATTAT
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000422681
  ensembl transcript: ENST00000513775
  gene symbol: GUF1
  hgvsc: ENST00000513775.1:c.*670-26_*670-22delATAAT
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl transcript: ENST00000506793
  gene symbol: GUF1
  hgvsc: ENST00000506793.1:n.961-26_961-22delATAAT
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000476853
  ensembl transcript: ENST00000609092
  gene symbol: GNPDA2
  hgvsc: ENST00000609092.1:c.247-6622_247-6618delATTAT
  variant of: http://identifiers.org/hgnc/21526
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5711
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5624
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5588
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4840
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 476
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2932
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4865
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5293
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3772
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1859
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3110
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37713
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2364
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5600
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2636
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2551
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
reference allele: GATAAT
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

4-44691282-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44691282
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 44691282
    reference: chr 4
allele count: 1
allele frequency: 8.619352169490942e-6
allele num: 116018
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl transcript: ENST00000506793
  gene symbol: GUF1
  hgvsc: ENST00000506793.1:n.961-21T>C
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000477137
  ensembl transcript: ENST00000608855
  gene symbol: GNPDA2
  hgvsc: ENST00000608855.1:c.128-6623A>G
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000476853
  ensembl transcript: ENST00000609092
  gene symbol: GNPDA2
  hgvsc: ENST00000609092.1:c.247-6623A>G
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000422681
  ensembl transcript: ENST00000513775
  gene symbol: GUF1
  hgvsc: ENST00000513775.1:c.*670-21T>C
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000281543
  ensembl transcript: ENST00000281543
  gene symbol: GUF1
  hgvsc: ENST00000281543.5:c.1079-21T>C
  variant of: http://identifiers.org/hgnc/25799
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4838
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4865
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5294
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3110
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2191
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4390
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3772
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5588
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5624
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5711
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1859
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37713
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5852
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2187
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2609
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1301
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2563
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ

4-44691293-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44691293
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 44691293
    reference: chr 4
allele count: 1
allele frequency: 8.559591878659225e-6
allele num: 116828
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000476853
  ensembl transcript: ENST00000609092
  gene symbol: GNPDA2
  hgvsc: ENST00000609092.1:c.247-6634C>A
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl transcript: ENST00000506793
  gene symbol: GUF1
  hgvsc: ENST00000506793.1:n.961-10G>T
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000422681
  ensembl transcript: ENST00000513775
  gene symbol: GUF1
  hgvsc: ENST00000513775.1:c.*670-10G>T
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000281543
  ensembl transcript: ENST00000281543
  gene symbol: GUF1
  hgvsc: ENST00000281543.5:c.1079-10G>T
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000477137
  ensembl transcript: ENST00000608855
  gene symbol: GNPDA2
  hgvsc: ENST00000608855.1:c.128-6634C>A
  variant of: http://identifiers.org/hgnc/21526
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3039
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5295
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5624
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3772
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5588
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4865
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4838
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4405
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5710
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3110
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
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genotype quality: GenotypeQuality
  all individuals: 6695
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genotype quality: GenotypeQuality
  all individuals: 2597
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
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genotype quality: GenotypeQuality
  all individuals: 1308
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 593
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genotype quality: GenotypeQuality
  all individuals: 2184
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genotype quality: GenotypeQuality
  all individuals: 317
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37710
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 2363
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genotype quality: GenotypeQuality
  all individuals: 102
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genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2271
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

4-44691297-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44691297
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 44691297
    reference: chr 4
allele count: 1
allele frequency: 8.528639170333982e-6
allele num: 117252
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000476853
  ensembl transcript: ENST00000609092
  gene symbol: GNPDA2
  hgvsc: ENST00000609092.1:c.247-6638G>A
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl transcript: ENST00000506793
  gene symbol: GUF1
  hgvsc: ENST00000506793.1:n.961-6C>T
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000281543
  ensembl transcript: ENST00000281543
  gene symbol: GUF1
  hgvsc: ENST00000281543.5:c.1079-6C>T
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000422681
  ensembl transcript: ENST00000513775
  gene symbol: GUF1
  hgvsc: ENST00000513775.1:c.*670-6C>T
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000477137
  ensembl transcript: ENST00000608855
  gene symbol: GNPDA2
  hgvsc: ENST00000608855.1:c.128-6638G>A
  variant of: http://identifiers.org/hgnc/21526
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4420
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3466
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5589
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4865
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1859
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5624
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4840
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3772
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 854
  bin: 8.75e1
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genotype depth: GenotypeDepth
  all individuals: 3110
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2610
  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2190
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 485
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genotype quality: GenotypeQuality
  all individuals: 58
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genotype quality: GenotypeQuality
  all individuals: 2168
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genotype quality: GenotypeQuality
  all individuals: 82
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
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  variant carriers: 0
hgvs: c.1079-6C>T
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

4-44691303-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44691303
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 44691302
    reference: chr 4
allele count: 1
allele frequency: 8.441240524707511e-6
allele num: 118466
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000281543
  ensembl transcript: ENST00000281543
  gene symbol: GUF1
  hgvsc: ENST00000281543.5:c.1081delA
  hgvsp: ENSP00000281543.5:p.Met361CysfsTer4
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000477137
  ensembl transcript: ENST00000608855
  gene symbol: GNPDA2
  hgvsc: ENST00000608855.1:c.128-6645delT
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000151806
  ensembl transcript: ENST00000506793
  gene symbol: GUF1
  hgvsc: ENST00000506793.1:n.963delA
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000422681
  ensembl transcript: ENST00000513775
  gene symbol: GUF1
  hgvsc: ENST00000513775.1:c.*672delA
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000476853
  ensembl transcript: ENST00000609092
  gene symbol: GNPDA2
  hgvsc: ENST00000609092.1:c.247-6645delT
  variant of: http://identifiers.org/hgnc/21526
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5625
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5300
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4843
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3363
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4447
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1859
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3771
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4247
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3110
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1330
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2683
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2203
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2365
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1330
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1519
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Met361CysfsTer4
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: GA
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

4-44691305-A-ATG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44691305
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 44691307
    reference: chr 4
allele count: 1
allele frequency: 8.424457886135027e-6
allele num: 118702
alternate allele: ATG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000476853
  ensembl transcript: ENST00000609092
  gene symbol: GNPDA2
  hgvsc: ENST00000609092.1:c.247-6648_247-6647dupCA
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000477137
  ensembl transcript: ENST00000608855
  gene symbol: GNPDA2
  hgvsc: ENST00000608855.1:c.128-6648_128-6647dupCA
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000422681
  ensembl transcript: ENST00000513775
  gene symbol: GUF1
  hgvsc: ENST00000513775.1:c.*674_*675dupGT
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151806
  ensembl transcript: ENST00000506793
  gene symbol: GUF1
  hgvsc: ENST00000506793.1:n.965_966dupGT
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000281543
  ensembl transcript: ENST00000281543
  gene symbol: GUF1
  hgvsc: ENST00000281543.5:c.1083_1084dupGT
  hgvsp: ENSP00000281543.5:p.Tyr362CysfsTer4
  variant of: http://identifiers.org/hgnc/25799
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5709
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4447
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3401
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3771
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3110
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5623
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1859
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5589
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4842
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4449
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5297
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4864
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37710
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8390
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2684
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2203
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2172
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Tyr362CysfsTer4
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

4-44691305-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44691305
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 44691305
    reference: chr 4
allele count: 4
allele frequency: 3.369783154454011e-5
allele num: 118702
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000476853
  ensembl transcript: ENST00000609092
  gene symbol: GNPDA2
  hgvsc: ENST00000609092.1:c.247-6646T>C
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000422681
  ensembl transcript: ENST00000513775
  gene symbol: GUF1
  hgvsc: ENST00000513775.1:c.*672A>G
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000281543
  ensembl transcript: ENST00000281543
  gene symbol: GUF1
  hgvsc: ENST00000281543.5:c.1081A>G
  hgvsp: ENSP00000281543.5:p.Met361Val
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000477137
  ensembl transcript: ENST00000608855
  gene symbol: GNPDA2
  hgvsc: ENST00000608855.1:c.128-6646T>C
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000151806
  ensembl transcript: ENST00000506793
  gene symbol: GUF1
  hgvsc: ENST00000506793.1:n.963A>G
  variant of: http://identifiers.org/hgnc/25799
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3771
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4864
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4842
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5589
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4447
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5709
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3401
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5623
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5297
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3110
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1859
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4449
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1330
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8390
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1386
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1328
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2172
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2366
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Met361Val
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD

4-44691336-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44691336
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 44691336
    reference: chr 4
allele count: 491
allele frequency: 4.062551712725467e-3
allele num: 120860
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000476853
  ensembl transcript: ENST00000609092
  gene symbol: GNPDA2
  hgvsc: ENST00000609092.1:c.247-6677T>C
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000281543
  ensembl transcript: ENST00000281543
  gene symbol: GUF1
  hgvsc: ENST00000281543.5:c.1112A>G
  hgvsp: ENSP00000281543.5:p.Asn371Ser
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151806
  ensembl transcript: ENST00000506793
  gene symbol: GUF1
  hgvsc: ENST00000506793.1:n.994A>G
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000422681
  ensembl transcript: ENST00000513775
  gene symbol: GUF1
  hgvsc: ENST00000513775.1:c.*703A>G
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000477137
  ensembl transcript: ENST00000608855
  gene symbol: GNPDA2
  hgvsc: ENST00000608855.1:c.128-6677T>C
  variant of: http://identifiers.org/hgnc/21526
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5597
  bin: 5.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 5294
  bin: 4.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 4517
  bin: 3.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 5702
  bin: 4.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3781
  bin: 6.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 5529
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 8.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 4869
  bin: 6.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 3900
  bin: 2.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1872
  bin: 7.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5618
  bin: 5.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 8.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 9.75e1
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 4851
  bin: 3.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 2699
  bin: 7.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 9.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2206
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1341
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2167
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2348
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asn371Ser
num of homozygotes: 12
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

4-44691342-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44691342
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 44691342
    reference: chr 4
allele count: 1
allele frequency: 8.270751315049459e-6
allele num: 120908
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000477137
  ensembl transcript: ENST00000608855
  gene symbol: GNPDA2
  hgvsc: ENST00000608855.1:c.128-6683T>C
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000422681
  ensembl transcript: ENST00000513775
  gene symbol: GUF1
  hgvsc: ENST00000513775.1:c.*709A>G
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000476853
  ensembl transcript: ENST00000609092
  gene symbol: GNPDA2
  hgvsc: ENST00000609092.1:c.247-6683T>C
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000281543
  ensembl transcript: ENST00000281543
  gene symbol: GUF1
  hgvsc: ENST00000281543.5:c.1118A>G
  hgvsp: ENSP00000281543.5:p.Lys373Arg
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151806
  ensembl transcript: ENST00000506793
  gene symbol: GUF1
  hgvsc: ENST00000506793.1:n.1000A>G
  variant of: http://identifiers.org/hgnc/25799
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4849
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5595
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5300
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4570
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2679
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4011
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4861
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5575
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3766
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3111
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5615
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10163
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1352
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2243
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Lys373Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

4-44691354-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44691354
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 44691354
    reference: chr 4
allele count: 2
allele frequency: 1.652510162937502e-5
allele num: 121028
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000422681
  ensembl transcript: ENST00000513775
  gene symbol: GUF1
  hgvsc: ENST00000513775.1:c.*721A>G
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000477137
  ensembl transcript: ENST00000608855
  gene symbol: GNPDA2
  hgvsc: ENST00000608855.1:c.128-6695T>C
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151806
  ensembl transcript: ENST00000506793
  gene symbol: GUF1
  hgvsc: ENST00000506793.1:n.1012A>G
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000281543
  ensembl transcript: ENST00000281543
  gene symbol: GUF1
  hgvsc: ENST00000281543.5:c.1130A>G
  hgvsp: ENSP00000281543.5:p.Glu377Gly
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000476853
  ensembl transcript: ENST00000609092
  gene symbol: GNPDA2
  hgvsc: ENST00000609092.1:c.247-6695T>C
  variant of: http://identifiers.org/hgnc/21526
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5706
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4575
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4848
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4069
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4861
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5595
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5614
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3766
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2679
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5608
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3112
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1356
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2862
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10325
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2179
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2364
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu377Gly
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

4-44691363-CTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44691363
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 44691361
    reference: chr 4
allele count: 1
allele frequency: 8.261731658955718e-6
allele num: 121040
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000281543
  ensembl transcript: ENST00000281543
  gene symbol: GUF1
  hgvsc: ENST00000281543.5:c.1141_1142delTT
  hgvsp: ENSP00000281543.5:p.Leu381LysfsTer2
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000422681
  ensembl transcript: ENST00000513775
  gene symbol: GUF1
  hgvsc: ENST00000513775.1:c.*732_*733delTT
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000477137
  ensembl transcript: ENST00000608855
  gene symbol: GNPDA2
  hgvsc: ENST00000608855.1:c.128-6706_128-6705delAA
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000476853
  ensembl transcript: ENST00000609092
  gene symbol: GNPDA2
  hgvsc: ENST00000609092.1:c.247-6706_247-6705delAA
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151806
  ensembl transcript: ENST00000506793
  gene symbol: GUF1
  hgvsc: ENST00000506793.1:n.1023_1024delTT
  variant of: http://identifiers.org/hgnc/25799
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 2680
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4586
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5587
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4848
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3766
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5705
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4096
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5595
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4860
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5615
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3112
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5300
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1353
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2244
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2862
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1326
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10313
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37651
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Leu381LysfsTer2
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
reference allele: CTT
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

4-44691374-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44691374
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 44691374
    reference: chr 4
allele count: 1
allele frequency: 8.261049153242462e-6
allele num: 121050
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000281543
  ensembl transcript: ENST00000281543
  gene symbol: GUF1
  hgvsc: ENST00000281543.5:c.1150T>G
  hgvsp: ENSP00000281543.5:p.Ser384Ala
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000477137
  ensembl transcript: ENST00000608855
  gene symbol: GNPDA2
  hgvsc: ENST00000608855.1:c.128-6715A>C
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151806
  ensembl transcript: ENST00000506793
  gene symbol: GUF1
  hgvsc: ENST00000506793.1:n.1032T>G
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000476853
  ensembl transcript: ENST00000609092
  gene symbol: GNPDA2
  hgvsc: ENST00000609092.1:c.247-6715A>C
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000422681
  ensembl transcript: ENST00000513775
  gene symbol: GUF1
  hgvsc: ENST00000513775.1:c.*741T>G
  variant of: http://identifiers.org/hgnc/25799
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5615
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3111
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5562
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4848
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5595
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4112
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4592
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2680
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4860
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5707
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3766
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5301
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1352
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2242
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2180
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1326
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser384Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

4-44691385-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44691385
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 44691385
    reference: chr 4
allele count: 2
allele frequency: 1.652455548945733e-5
allele num: 121032
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151806
  ensembl transcript: ENST00000506793
  gene symbol: GUF1
  hgvsc: ENST00000506793.1:n.1043C>T
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000476853
  ensembl transcript: ENST00000609092
  gene symbol: GNPDA2
  hgvsc: ENST00000609092.1:c.247-6726G>A
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000422681
  ensembl transcript: ENST00000513775
  gene symbol: GUF1
  hgvsc: ENST00000513775.1:c.*752C>T
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000477137
  ensembl transcript: ENST00000608855
  gene symbol: GNPDA2
  hgvsc: ENST00000608855.1:c.128-6726G>A
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000281543
  ensembl transcript: ENST00000281543
  gene symbol: GUF1
  hgvsc: ENST00000281543.5:c.1161C>T
  hgvsp: ENST00000281543.5:c.1161C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25799
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5596
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4849
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4860
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4588
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3111
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3766
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5617
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5471
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5707
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4148
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2680
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10236
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2179
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2364
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1324
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2237
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr387Thr
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: MQ

4-44691386-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44691386
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 44691386
    reference: chr 4
allele count: 1
allele frequency: 8.261049153242462e-6
allele num: 121050
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000477137
  ensembl transcript: ENST00000608855
  gene symbol: GNPDA2
  hgvsc: ENST00000608855.1:c.128-6727C>T
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000281543
  ensembl transcript: ENST00000281543
  gene symbol: GUF1
  hgvsc: ENST00000281543.5:c.1162G>A
  hgvsp: ENSP00000281543.5:p.Val388Ile
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000422681
  ensembl transcript: ENST00000513775
  gene symbol: GUF1
  hgvsc: ENST00000513775.1:c.*753G>A
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151806
  ensembl transcript: ENST00000506793
  gene symbol: GUF1
  hgvsc: ENST00000506793.1:n.1044G>A
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000476853
  ensembl transcript: ENST00000609092
  gene symbol: GNPDA2
  hgvsc: ENST00000609092.1:c.247-6727C>T
  variant of: http://identifiers.org/hgnc/21526
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4591
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4158
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5446
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3766
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3112
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5617
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4851
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5706
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4860
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5302
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2680
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5595
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1351
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37649
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2364
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10236
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2870
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val388Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP

4-44691392-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44691392
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 44691392
    reference: chr 4
allele count: 6
allele frequency: 4.958104021022361e-5
allele num: 121014
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151806
  ensembl transcript: ENST00000506793
  gene symbol: GUF1
  hgvsc: ENST00000506793.1:n.1050C>T
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000476853
  ensembl transcript: ENST00000609092
  gene symbol: GNPDA2
  hgvsc: ENST00000609092.1:c.247-6733G>A
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000422681
  ensembl transcript: ENST00000513775
  gene symbol: GUF1
  hgvsc: ENST00000513775.1:c.*759C>T
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000477137
  ensembl transcript: ENST00000608855
  gene symbol: GNPDA2
  hgvsc: ENST00000608855.1:c.128-6733G>A
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000281543
  ensembl transcript: ENST00000281543
  gene symbol: GUF1
  hgvsc: ENST00000281543.5:c.1168C>T
  hgvsp: ENSP00000281543.5:p.Arg390Trp
  variant of: http://identifiers.org/hgnc/25799
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4590
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3115
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3766
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5595
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5300
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5616
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5403
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4852
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4859
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4158
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2681
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10171
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2870
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2182
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2364
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg390Trp
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: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

4-44691393-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44691393
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 44691393
    reference: chr 4
allele count: 42
allele frequency: 3.47055809879522e-4
allele num: 121018
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000476853
  ensembl transcript: ENST00000609092
  gene symbol: GNPDA2
  hgvsc: ENST00000609092.1:c.247-6734C>T
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000281543
  ensembl transcript: ENST00000281543
  gene symbol: GUF1
  hgvsc: ENST00000281543.5:c.1169G>A
  hgvsp: ENSP00000281543.5:p.Arg390Gln
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000422681
  ensembl transcript: ENST00000513775
  gene symbol: GUF1
  hgvsc: ENST00000513775.1:c.*760G>A
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151806
  ensembl transcript: ENST00000506793
  gene symbol: GUF1
  hgvsc: ENST00000506793.1:n.1051G>A
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000477137
  ensembl transcript: ENST00000608855
  gene symbol: GNPDA2
  hgvsc: ENST00000608855.1:c.128-6734C>T
  variant of: http://identifiers.org/hgnc/21526
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4592
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3767
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5708
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5298
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4860
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3126
  bin: 9.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5387
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2681
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1852
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5591
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4159
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5614
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4853
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 10166
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1324
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2178
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2363
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg390Gln
num of homozygotes: 1
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

4-44691410-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44691410
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 44691410
    reference: chr 4
allele count: 1
allele frequency: 8.282533792737874e-6
allele num: 120736
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151806
  ensembl transcript: ENST00000506793
  gene symbol: GUF1
  hgvsc: ENST00000506793.1:n.1068C>G
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000477137
  ensembl transcript: ENST00000608855
  gene symbol: GNPDA2
  hgvsc: ENST00000608855.1:c.128-6751G>C
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000281543
  ensembl transcript: ENST00000281543
  gene symbol: GUF1
  hgvsc: ENST00000281543.5:c.1186C>G
  hgvsp: ENSP00000281543.5:p.Leu396Val
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000422681
  ensembl transcript: ENST00000513775
  gene symbol: GUF1
  hgvsc: ENST00000513775.1:c.*777C>G
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000476853
  ensembl transcript: ENST00000609092
  gene symbol: GNPDA2
  hgvsc: ENST00000609092.1:c.247-6751G>C
  variant of: http://identifiers.org/hgnc/21526
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2684
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5707
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4863
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5592
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4855
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4857
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4154
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3766
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5616
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3110
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4595
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2222
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1340
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37647
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1324
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2178
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu396Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

4-44691411-T-TG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44691411
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 44691412
    reference: chr 4
allele count: 1
allele frequency: 8.281573498964803e-6
allele num: 120750
alternate allele: TG
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000422681
  ensembl transcript: ENST00000513775
  gene symbol: GUF1
  hgvsc: ENST00000513775.1:c.*781dupG
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000281543
  ensembl transcript: ENST00000281543
  gene symbol: GUF1
  hgvsc: ENST00000281543.5:c.1190dupG
  hgvsp: ENSP00000281543.5:p.Ala398CysfsTer25
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151806
  ensembl transcript: ENST00000506793
  gene symbol: GUF1
  hgvsc: ENST00000506793.1:n.1072dupG
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000476853
  ensembl transcript: ENST00000609092
  gene symbol: GNPDA2
  hgvsc: ENST00000609092.1:c.247-6753dupC
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000477137
  ensembl transcript: ENST00000608855
  gene symbol: GNPDA2
  hgvsc: ENST00000608855.1:c.128-6753dupC
  variant of: http://identifiers.org/hgnc/21526
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3766
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5707
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4853
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4591
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4863
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5616
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4156
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2683
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5592
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4863
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3111
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5297
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2223
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1325
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 2367
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2180
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala398CysfsTer25
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

4-44691425-AGG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44691425
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 44691423
    reference: chr 4
allele count: 1
allele frequency: 8.318775476249896e-6
allele num: 120210
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000281543
  ensembl transcript: ENST00000281543
  gene symbol: GUF1
  hgvsc: ENST00000281543.5:c.1202_1202+1delGG
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000477137
  ensembl transcript: ENST00000608855
  gene symbol: GNPDA2
  hgvsc: ENST00000608855.1:c.128-6768_128-6767delCC
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000422681
  ensembl transcript: ENST00000513775
  gene symbol: GUF1
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000476853
  ensembl transcript: ENST00000609092
  gene symbol: GNPDA2
  hgvsc: ENST00000609092.1:c.247-6768_247-6767delCC
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151806
  ensembl transcript: ENST00000506793
  gene symbol: GUF1
  hgvsc: ENST00000506793.1:n.1084_1084+1delGG
  variant of: http://identifiers.org/hgnc/25799
canonical: true
consequence: splice donor
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 4849
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3766
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4863
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5617
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3112
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4546
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5592
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4114
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3931
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5295
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5707
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2683
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1251
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8576
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1323
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2204
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1328
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 2.75e1
  variant carriers: 0
hgvs: c.1202_1202+1delGG
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: AGG
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

4-44691426-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44691426
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 44691426
    reference: chr 4
allele count: 1
allele frequency: 8.321544478655239e-6
allele num: 120170
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000151806
  ensembl transcript: ENST00000506793
  gene symbol: GUF1
  hgvsc: ENST00000506793.1:n.1084G>A
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000281543
  ensembl transcript: ENST00000281543
  gene symbol: GUF1
  hgvsc: ENST00000281543.5:c.1202G>A
  hgvsp: ENSP00000281543.5:p.Arg401Lys
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000477137
  ensembl transcript: ENST00000608855
  gene symbol: GNPDA2
  hgvsc: ENST00000608855.1:c.128-6767C>T
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000422681
  ensembl transcript: ENST00000513775
  gene symbol: GUF1
  hgvsc: ENST00000513775.1:c.*793G>A
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000476853
  ensembl transcript: ENST00000609092
  gene symbol: GNPDA2
  hgvsc: ENST00000609092.1:c.247-6767C>T
  variant of: http://identifiers.org/hgnc/21526
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4548
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5706
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3906
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5592
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2683
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3766
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5297
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4864
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4847
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4073
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3111
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5617
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8496
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2720
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2205
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2364
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37644
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Arg401Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

4-44691427-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44691427
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 44691427
    reference: chr 4
allele count: 1
allele frequency: 8.326810664979099e-6
allele num: 120094
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000151806
  ensembl transcript: ENST00000506793
  gene symbol: GUF1
  hgvsc: ENST00000506793.1:n.1084+1G>T
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000281543
  ensembl transcript: ENST00000281543
  gene symbol: GUF1
  hgvsc: ENST00000281543.5:c.1202+1G>T
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000476853
  ensembl transcript: ENST00000609092
  gene symbol: GNPDA2
  hgvsc: ENST00000609092.1:c.247-6768C>A
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000477137
  ensembl transcript: ENST00000608855
  gene symbol: GNPDA2
  hgvsc: ENST00000608855.1:c.128-6768C>A
  variant of: http://identifiers.org/hgnc/21526
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4015
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2683
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3895
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5298
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5705
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4863
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
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genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3766
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3111
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4851
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1322
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2364
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 179
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1350
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 253
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8406
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37643
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2172
  bin: 8.25e1
  variant carriers: 0
hgvs: c.1202+1G>T
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

4-44691429-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44691429
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 44691429
    reference: chr 4
allele count: 1
allele frequency: 8.332916687498959e-6
allele num: 120006
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000477137
  ensembl transcript: ENST00000608855
  gene symbol: GNPDA2
  hgvsc: ENST00000608855.1:c.128-6770T>C
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl transcript: ENST00000506793
  gene symbol: GUF1
  hgvsc: ENST00000506793.1:n.1084+3A>G
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000476853
  ensembl transcript: ENST00000609092
  gene symbol: GNPDA2
  hgvsc: ENST00000609092.1:c.247-6770T>C
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000281543
  ensembl transcript: ENST00000281543
  gene symbol: GUF1
  hgvsc: ENST00000281543.5:c.1202+3A>G
  variant of: http://identifiers.org/hgnc/25799
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2683
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3890
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3110
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5616
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5706
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3767
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 165
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 2175
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 116
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genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 1323
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2366
  bin: 9.25e1
  variant carriers: 0
hgvs: c.1202+3A>G
num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD

4-44691440-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44691440
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 44691440
    reference: chr 4
allele count: 1
allele frequency: 8.359945827551038e-6
allele num: 119618
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000281543
  ensembl transcript: ENST00000281543
  gene symbol: GUF1
  hgvsc: ENST00000281543.5:c.1202+14A>G
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000477137
  ensembl transcript: ENST00000608855
  gene symbol: GNPDA2
  hgvsc: ENST00000608855.1:c.128-6781T>C
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl transcript: ENST00000506793
  gene symbol: GUF1
  hgvsc: ENST00000506793.1:n.1084+14A>G
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000476853
  ensembl transcript: ENST00000609092
  gene symbol: GNPDA2
  hgvsc: ENST00000609092.1:c.247-6781T>C
  variant of: http://identifiers.org/hgnc/21526
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4476
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3767
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1869
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4863
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5298
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5616
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4848
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2683
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3208
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3704
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3111
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5592
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1300
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2364
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genotype quality: GenotypeQuality
  all individuals: 2672
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2023
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37644
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff

4-44691447-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44691447
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 44691447
    reference: chr 4
allele count: 1
allele frequency: 8.376612497905846e-6
allele num: 119380
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000281543
  ensembl transcript: ENST00000281543
  gene symbol: GUF1
  hgvsc: ENST00000281543.5:c.1202+21T>C
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000477137
  ensembl transcript: ENST00000608855
  gene symbol: GNPDA2
  hgvsc: ENST00000608855.1:c.128-6788A>G
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000476853
  ensembl transcript: ENST00000609092
  gene symbol: GNPDA2
  hgvsc: ENST00000609092.1:c.247-6788A>G
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl transcript: ENST00000506793
  gene symbol: GUF1
  hgvsc: ENST00000506793.1:n.1084+21T>C
  variant of: http://identifiers.org/hgnc/25799
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5707
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3507
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 735
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4845
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3110
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37644
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2619
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6801
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum

4-44691451-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44691451
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 44691451
    reference: chr 4
allele count: 1
allele frequency: 8.389543273264204e-6
allele num: 119196
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000281543
  ensembl transcript: ENST00000281543
  gene symbol: GUF1
  hgvsc: ENST00000281543.5:c.1202+25A>G
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000477137
  ensembl transcript: ENST00000608855
  gene symbol: GNPDA2
  hgvsc: ENST00000608855.1:c.128-6792T>C
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl transcript: ENST00000506793
  gene symbol: GUF1
  hgvsc: ENST00000506793.1:n.1084+25A>G
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000476853
  ensembl transcript: ENST00000609092
  gene symbol: GNPDA2
  hgvsc: ENST00000609092.1:c.247-6792T>C
  variant of: http://identifiers.org/hgnc/21526
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4428
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2628
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3406
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3110
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5616
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4865
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2682
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2160
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1321
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 2363
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2570
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1282
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2583
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum

4-44691461-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44691461
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 44691461
    reference: chr 4
allele count: 4
allele frequency: 3.365926723775224e-5
allele num: 118838
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl transcript: ENST00000506793
  gene symbol: GUF1
  hgvsc: ENST00000506793.1:n.1084+35G>A
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000281543
  ensembl transcript: ENST00000281543
  gene symbol: GUF1
  hgvsc: ENST00000281543.5:c.1202+35G>A
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000476853
  ensembl transcript: ENST00000609092
  gene symbol: GNPDA2
  hgvsc: ENST00000609092.1:c.247-6802C>T
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000477137
  ensembl transcript: ENST00000608855
  gene symbol: GNPDA2
  hgvsc: ENST00000608855.1:c.128-6802C>T
  variant of: http://identifiers.org/hgnc/21526
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3270
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
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  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4865
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2681
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3110
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3767
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5291
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5593
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37644
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 2931
  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 481
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2153
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD

4-44691463-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44691463
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 44691463
    reference: chr 4
allele count: 1
allele frequency: 8.479462741240714e-6
allele num: 117932
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000477137
  ensembl transcript: ENST00000608855
  gene symbol: GNPDA2
  hgvsc: ENST00000608855.1:c.128-6804C>T
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000281543
  ensembl transcript: ENST00000281543
  gene symbol: GUF1
  hgvsc: ENST00000281543.5:c.1202+37G>A
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl transcript: ENST00000506793
  gene symbol: GUF1
  hgvsc: ENST00000506793.1:n.1084+37G>A
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000476853
  ensembl transcript: ENST00000609092
  gene symbol: GNPDA2
  hgvsc: ENST00000609092.1:c.247-6804C>T
  variant of: http://identifiers.org/hgnc/21526
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5591
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4139
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3110
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3155
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3767
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2681
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4866
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2330
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4793
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 37629
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

4-44691466-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44691466
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 44691466
    reference: chr 4
allele count: 1
allele frequency: 8.483059330516958e-6
allele num: 117882
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000281543
  ensembl transcript: ENST00000281543
  gene symbol: GUF1
  hgvsc: ENST00000281543.5:c.1202+40G>A
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000477137
  ensembl transcript: ENST00000608855
  gene symbol: GNPDA2
  hgvsc: ENST00000608855.1:c.128-6807C>T
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl transcript: ENST00000506793
  gene symbol: GUF1
  hgvsc: ENST00000506793.1:n.1084+40G>A
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000476853
  ensembl transcript: ENST00000609092
  gene symbol: GNPDA2
  hgvsc: ENST00000609092.1:c.247-6807C>T
  variant of: http://identifiers.org/hgnc/21526
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5704
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4786
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

4-44691475-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44691475
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 44691475
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 116442
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000281543
  ensembl transcript: ENST00000281543
  gene symbol: GUF1
  hgvsc: ENST00000281543.5:c.1202+49G>A
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl transcript: ENST00000506793
  gene symbol: GUF1
  hgvsc: ENST00000506793.1:n.1084+49G>A
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000477137
  ensembl transcript: ENST00000608855
  gene symbol: GNPDA2
  hgvsc: ENST00000608855.1:c.128-6816C>T
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000476853
  ensembl transcript: ENST00000609092
  gene symbol: GNPDA2
  hgvsc: ENST00000609092.1:c.247-6816C>T
  variant of: http://identifiers.org/hgnc/21526
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 5592
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2097
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1303
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37622
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1296
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2140
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2036
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 914
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2353
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
reference allele: G
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum

4-44691813-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44691813
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 44691813
    reference: chr 4
allele count: 1
allele frequency: 8.64274355251331e-6
allele num: 115704
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl transcript: ENST00000506793
  gene symbol: GUF1
  hgvsc: ENST00000506793.1:n.1085-47A>G
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000281543
  ensembl transcript: ENST00000281543
  gene symbol: GUF1
  hgvsc: ENST00000281543.5:c.1203-47A>G
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000477137
  ensembl transcript: ENST00000608855
  gene symbol: GNPDA2
  hgvsc: ENST00000608855.1:c.128-7154T>C
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000476853
  ensembl transcript: ENST00000609092
  gene symbol: GNPDA2
  hgvsc: ENST00000609092.1:c.247-7154T>C
  variant of: http://identifiers.org/hgnc/21526
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7788
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4246
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3580
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13870
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6990
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9967
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1347
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4018
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2154
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1556
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16130
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2409
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 3870
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4740
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: A
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

4-44691816-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44691816
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 44691816
    reference: chr 4
allele count: 16
allele frequency: 1.379072573694191e-4
allele num: 116020
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl transcript: ENST00000506793
  gene symbol: GUF1
  hgvsc: ENST00000506793.1:n.1085-44C>T
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000476853
  ensembl transcript: ENST00000609092
  gene symbol: GNPDA2
  hgvsc: ENST00000609092.1:c.247-7157G>A
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000281543
  ensembl transcript: ENST00000281543
  gene symbol: GUF1
  hgvsc: ENST00000281543.5:c.1203-44C>T
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000477137
  ensembl transcript: ENST00000608855
  gene symbol: GNPDA2
  hgvsc: ENST00000608855.1:c.128-7157G>A
  variant of: http://identifiers.org/hgnc/21526
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14363
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8660
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4274
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11144
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2198
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3247
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2364
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7007
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1163
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8088
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1281
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4091
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 9880
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 160
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2556
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2167
  bin: 8.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

4-44691825-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44691825
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 44691825
    reference: chr 4
allele count: 2
allele frequency: 1.70520428347316e-5
allele num: 117288
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000476853
  ensembl transcript: ENST00000609092
  gene symbol: GNPDA2
  hgvsc: ENST00000609092.1:c.247-7166T>C
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl transcript: ENST00000506793
  gene symbol: GUF1
  hgvsc: ENST00000506793.1:n.1085-35A>G
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000281543
  ensembl transcript: ENST00000281543
  gene symbol: GUF1
  hgvsc: ENST00000281543.5:c.1203-35A>G
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000477137
  ensembl transcript: ENST00000608855
  gene symbol: GNPDA2
  hgvsc: ENST00000608855.1:c.128-7166T>C
  variant of: http://identifiers.org/hgnc/21526
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1776
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4267
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7056
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9967
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11328
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2363
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
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genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 425
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 19890
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3903
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9914
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

4-44691841-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44691841
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 44691841
    reference: chr 4
allele count: 2
allele frequency: 1.681209125603134e-5
allele num: 118962
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000477137
  ensembl transcript: ENST00000608855
  gene symbol: GNPDA2
  hgvsc: ENST00000608855.1:c.128-7182A>G
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000476853
  ensembl transcript: ENST00000609092
  gene symbol: GNPDA2
  hgvsc: ENST00000609092.1:c.247-7182A>G
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000281543
  ensembl transcript: ENST00000281543
  gene symbol: GUF1
  hgvsc: ENST00000281543.5:c.1203-19T>C
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl transcript: ENST00000506793
  gene symbol: GUF1
  hgvsc: ENST00000506793.1:n.1085-19T>C
  variant of: http://identifiers.org/hgnc/25799
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11676
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15740
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11404
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4278
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 1.25e1
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genotype depth: GenotypeDepth
  all individuals: 855
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2362
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4202
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 199
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3910
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9905
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 22205
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1280
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4840
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2440
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: T
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff

4-44691845-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44691845
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 44691845
    reference: chr 4
allele count: 1
allele frequency: 8.38940250675347e-6
allele num: 119198
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000281543
  ensembl transcript: ENST00000281543
  gene symbol: GUF1
  hgvsc: ENST00000281543.5:c.1203-15C>T
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000477137
  ensembl transcript: ENST00000608855
  gene symbol: GNPDA2
  hgvsc: ENST00000608855.1:c.128-7186G>A
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl transcript: ENST00000506793
  gene symbol: GUF1
  hgvsc: ENST00000506793.1:n.1085-15C>T
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000476853
  ensembl transcript: ENST00000609092
  gene symbol: GNPDA2
  hgvsc: ENST00000609092.1:c.247-7186G>A
  variant of: http://identifiers.org/hgnc/21526
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11471
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11897
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15878
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4287
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2361
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7071
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22306
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9895
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8387
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1075
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4182
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3895
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2182
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ

4-44691847-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44691847
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 44691847
    reference: chr 4
allele count: 2
allele frequency: 1.672968180145214e-5
allele num: 119548
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000476853
  ensembl transcript: ENST00000609092
  gene symbol: GNPDA2
  hgvsc: ENST00000609092.1:c.247-7188A>T
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000281543
  ensembl transcript: ENST00000281543
  gene symbol: GUF1
  hgvsc: ENST00000281543.5:c.1203-13T>A
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000477137
  ensembl transcript: ENST00000608855
  gene symbol: GNPDA2
  hgvsc: ENST00000608855.1:c.128-7188A>T
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl transcript: ENST00000506793
  gene symbol: GUF1
  hgvsc: ENST00000506793.1:n.1085-13T>A
  variant of: http://identifiers.org/hgnc/25799
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7067
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15953
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2358
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11461
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4282
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12108
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8476
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 963
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4202
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3899
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 250
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22850
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4836
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
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genotype quality: GenotypeQuality
  all individuals: 74
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
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genotype quality: GenotypeQuality
  all individuals: 217
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genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/4-44691850-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44691850
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 44691850
    reference: chr 4
allele count: 1
allele frequency: 8.348917980229763e-6
allele num: 119776
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl transcript: ENST00000506793
  gene symbol: GUF1
  hgvsc: ENST00000506793.1:n.1085-10C>A
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000281543
  ensembl transcript: ENST00000281543
  gene symbol: GUF1
  hgvsc: ENST00000281543.5:c.1203-10C>A
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000476853
  ensembl transcript: ENST00000609092
  gene symbol: GNPDA2
  hgvsc: ENST00000609092.1:c.247-7191G>T
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000477137
  ensembl transcript: ENST00000608855
  gene symbol: GNPDA2
  hgvsc: ENST00000608855.1:c.128-7191G>T
  variant of: http://identifiers.org/hgnc/21526
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2358
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12258
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16035
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11484
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7070
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4284
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3899
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 203
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2442
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genotype quality: GenotypeQuality
  all individuals: 9912
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23060
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4831
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

4-44691852-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44691852
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 44691852
    reference: chr 4
allele count: 6
allele frequency: 5.001333688983729e-5
allele num: 119968
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl transcript: ENST00000506793
  gene symbol: GUF1
  hgvsc: ENST00000506793.1:n.1085-8T>C
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000476853
  ensembl transcript: ENST00000609092
  gene symbol: GNPDA2
  hgvsc: ENST00000609092.1:c.247-7193A>G
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000477137
  ensembl transcript: ENST00000608855
  gene symbol: GNPDA2
  hgvsc: ENST00000608855.1:c.128-7193A>G
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000281543
  ensembl transcript: ENST00000281543
  gene symbol: GUF1
  hgvsc: ENST00000281543.5:c.1203-8T>C
  variant of: http://identifiers.org/hgnc/25799
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7077
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4285
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16112
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12311
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2443
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3910
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9917
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
hgvs: c.1203-8T>C
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

4-44691854-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44691854
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 44691854
    reference: chr 4
allele count: 1
allele frequency: 8.325424180361989e-6
allele num: 120114
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000476853
  ensembl transcript: ENST00000609092
  gene symbol: GNPDA2
  hgvsc: ENST00000609092.1:c.247-7195G>A
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000477137
  ensembl transcript: ENST00000608855
  gene symbol: GNPDA2
  hgvsc: ENST00000608855.1:c.128-7195G>A
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000281543
  ensembl transcript: ENST00000281543
  gene symbol: GUF1
  hgvsc: ENST00000281543.5:c.1203-6C>T
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl transcript: ENST00000506793
  gene symbol: GUF1
  hgvsc: ENST00000506793.1:n.1085-6C>T
  variant of: http://identifiers.org/hgnc/25799
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11497
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16221
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4282
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7070
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12373
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2360
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4190
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23418
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8488
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4833
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2444
  bin: 9.25e1
  variant carriers: 0
hgvs: c.1203-6C>T
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff

4-44691857-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44691857
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 44691857
    reference: chr 4
allele count: 7
allele frequency: 5.816272268013826e-5
allele num: 120352
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000281543
  ensembl transcript: ENST00000281543
  gene symbol: GUF1
  hgvsc: ENST00000281543.5:c.1203-3C>G
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000477137
  ensembl transcript: ENST00000608855
  gene symbol: GNPDA2
  hgvsc: ENST00000608855.1:c.128-7198G>C
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000476853
  ensembl transcript: ENST00000609092
  gene symbol: GNPDA2
  hgvsc: ENST00000609092.1:c.247-7198G>C
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151806
  ensembl transcript: ENST00000506793
  gene symbol: GUF1
  hgvsc: ENST00000506793.1:n.1085-3C>G
  variant of: http://identifiers.org/hgnc/25799
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11521
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4284
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16328
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7080
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2363
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12463
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23648
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4195
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
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genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4832
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 42
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9921
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 2187
  bin: 8.75e1
  variant carriers: 0
hgvs: c.1203-3C>G
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

4-44691864-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44691864
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 44691864
    reference: chr 4
allele count: 1
allele frequency: 8.285141427364165e-6
allele num: 120698
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151806
  ensembl transcript: ENST00000506793
  gene symbol: GUF1
  hgvsc: ENST00000506793.1:n.1089G>C
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000477137
  ensembl transcript: ENST00000608855
  gene symbol: GNPDA2
  hgvsc: ENST00000608855.1:c.128-7205C>G
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000281543
  ensembl transcript: ENST00000281543
  gene symbol: GUF1
  hgvsc: ENST00000281543.5:c.1207G>C
  hgvsp: ENSP00000281543.5:p.Gly403Arg
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000476853
  ensembl transcript: ENST00000609092
  gene symbol: GNPDA2
  hgvsc: ENST00000609092.1:c.247-7205C>G
  variant of: http://identifiers.org/hgnc/21526
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12650
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16470
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11507
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2363
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7076
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4281
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4833
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly403Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD

4-44691865-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44691865
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 44691865
    reference: chr 4
allele count: 5
allele frequency: 4.141541316016168e-5
allele num: 120728
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000476853
  ensembl transcript: ENST00000609092
  gene symbol: GNPDA2
  hgvsc: ENST00000609092.1:c.247-7206C>G
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151806
  ensembl transcript: ENST00000506793
  gene symbol: GUF1
  hgvsc: ENST00000506793.1:n.1090G>C
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000281543
  ensembl transcript: ENST00000281543
  gene symbol: GUF1
  hgvsc: ENST00000281543.5:c.1208G>C
  hgvsp: ENSP00000281543.5:p.Gly403Ala
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000477137
  ensembl transcript: ENST00000608855
  gene symbol: GNPDA2
  hgvsc: ENST00000608855.1:c.128-7206C>G
  variant of: http://identifiers.org/hgnc/21526
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12654
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4281
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7076
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11513
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16481
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4831
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3897
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24067
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2445
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9917
  bin: 9.75e1
  variant carriers: 5
hgvs: p.Gly403Ala
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

4-44691873-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44691873
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 44691873
    reference: chr 4
allele count: 90
allele frequency: 7.445400397088021e-4
allele num: 120880
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000476853
  ensembl transcript: ENST00000609092
  gene symbol: GNPDA2
  hgvsc: ENST00000609092.1:c.247-7214C>G
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000281543
  ensembl transcript: ENST00000281543
  gene symbol: GUF1
  hgvsc: ENST00000281543.5:c.1216G>C
  hgvsp: ENSP00000281543.5:p.Gly406Arg
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000477137
  ensembl transcript: ENST00000608855
  gene symbol: GNPDA2
  hgvsc: ENST00000608855.1:c.128-7214C>G
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151806
  ensembl transcript: ENST00000506793
  gene symbol: GUF1
  hgvsc: ENST00000506793.1:n.1098G>C
  variant of: http://identifiers.org/hgnc/25799
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 9.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 7072
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2362
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11514
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 12680
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4281
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16539
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 2181
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3894
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9990
  bin: 9.75e1
  variant carriers: 89
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2441
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8510
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4186
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4817
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly406Arg
num of homozygotes: 1
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

4-44691886-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44691886
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 44691885
    reference: chr 4
allele count: 1
allele frequency: 8.265145879824779e-6
allele num: 120990
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151806
  ensembl transcript: ENST00000506793
  gene symbol: GUF1
  hgvsc: ENST00000506793.1:n.1113delG
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000476853
  ensembl transcript: ENST00000609092
  gene symbol: GNPDA2
  hgvsc: ENST00000609092.1:c.247-7228delC
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000477137
  ensembl transcript: ENST00000608855
  gene symbol: GNPDA2
  hgvsc: ENST00000608855.1:c.128-7228delC
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000281543
  ensembl transcript: ENST00000281543
  gene symbol: GUF1
  hgvsc: ENST00000281543.5:c.1231delG
  hgvsp: ENSP00000281543.5:p.Glu411LysfsTer17
  variant of: http://identifiers.org/hgnc/25799
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16660
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7075
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4287
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12627
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11527
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9924
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4815
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8530
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3901
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4192
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu411LysfsTer17
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: TG
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/4-44691890-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44691890
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 44691890
    reference: chr 4
allele count: 1
allele frequency: 8.264326209484141e-6
allele num: 121002
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000477137
  ensembl transcript: ENST00000608855
  gene symbol: GNPDA2
  hgvsc: ENST00000608855.1:c.128-7231T>G
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151806
  ensembl transcript: ENST00000506793
  gene symbol: GUF1
  hgvsc: ENST00000506793.1:n.1115A>C
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000281543
  ensembl transcript: ENST00000281543
  gene symbol: GUF1
  hgvsc: ENST00000281543.5:c.1233A>C
  hgvsp: ENSP00000281543.5:p.Glu411Asp
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000476853
  ensembl transcript: ENST00000609092
  gene symbol: GNPDA2
  hgvsc: ENST00000609092.1:c.247-7231T>G
  variant of: http://identifiers.org/hgnc/21526
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7078
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12625
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16666
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11525
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2365
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4287
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8523
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2445
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 227
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 4818
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9926
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2186
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu411Asp
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum

4-44691890-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44691890
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 44691890
    reference: chr 4
allele count: 3
allele frequency: 2.479297862845242e-5
allele num: 121002
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151806
  ensembl transcript: ENST00000506793
  gene symbol: GUF1
  hgvsc: ENST00000506793.1:n.1115A>G
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000476853
  ensembl transcript: ENST00000609092
  gene symbol: GNPDA2
  hgvsc: ENST00000609092.1:c.247-7231T>C
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000477137
  ensembl transcript: ENST00000608855
  gene symbol: GNPDA2
  hgvsc: ENST00000608855.1:c.128-7231T>C
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000281543
  ensembl transcript: ENST00000281543
  gene symbol: GUF1
  hgvsc: ENST00000281543.5:c.1233A>G
  hgvsp: ENST00000281543.5:c.1233A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25799
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16666
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11525
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4287
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12625
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7078
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2365
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3900
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4818
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8523
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9926
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24287
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2186
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu411Glu
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

4-44691898-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44691898
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 44691898
    reference: chr 4
allele count: 1
allele frequency: 8.262414277451872e-6
allele num: 121030
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000477137
  ensembl transcript: ENST00000608855
  gene symbol: GNPDA2
  hgvsc: ENST00000608855.1:c.128-7239T>A
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000281543
  ensembl transcript: ENST00000281543
  gene symbol: GUF1
  hgvsc: ENST00000281543.5:c.1241A>T
  hgvsp: ENSP00000281543.5:p.Asn414Ile
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000476853
  ensembl transcript: ENST00000609092
  gene symbol: GNPDA2
  hgvsc: ENST00000609092.1:c.247-7239T>A
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151806
  ensembl transcript: ENST00000506793
  gene symbol: GUF1
  hgvsc: ENST00000506793.1:n.1123A>T
  variant of: http://identifiers.org/hgnc/25799
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4292
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2363
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12615
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11529
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16688
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7075
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8523
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24306
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9927
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2190
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3902
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4187
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asn414Ile
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

4-44691903-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44691903
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 44691903
    reference: chr 4
allele count: 2
allele frequency: 1.652755970580944e-5
allele num: 121010
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000151806
  ensembl protein: ENSP00000281543
  ensembl transcript: ENST00000281543
  gene symbol: GUF1
  hgvsc: ENST00000281543.5:c.1246C>T
  hgvsp: ENSP00000281543.5:p.Arg416Ter
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000476853
  ensembl transcript: ENST00000609092
  gene symbol: GNPDA2
  hgvsc: ENST00000609092.1:c.247-7244G>A
  variant of: http://identifiers.org/hgnc/21526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151806
  ensembl transcript: ENST00000506793
  gene symbol: GUF1
  hgvsc: ENST00000506793.1:n.1128C>T
  variant of: http://identifiers.org/hgnc/25799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163281
  ensembl protein: ENSP00000477137
  ensembl transcript: ENST00000608855
  gene symbol: GNPDA2
  hgvsc: ENST00000608855.1:c.128-7244G>A
  variant of: http://identifiers.org/hgnc/21526
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4296
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11533
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16692
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12597
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7076
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2364
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4186
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8517
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4813
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3899
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2185
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2444
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg416Ter
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum

GenotypeQuality
all individuals: 2750
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1678
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1563
bin: 7.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
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: 16506
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66662
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
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: -9.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.35e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.62e-1

FS
type: SiteQuality
SIO_000300: 6.976e0

DP
type: SiteQuality
SIO_000300: 2.643899e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.55e-1

QD
type: SiteQuality
SIO_000300: 1.398e1

GenotypeQuality
all individuals: 2708
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2677
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2549
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.000750187546887e-5
allele num: 66650
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
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: 6614
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: 906
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.39e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.07e0

FS
type: SiteQuality
SIO_000300: 2.211e0

DP
type: SiteQuality
SIO_000300: 2.643979e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.65e-1

MQ
type: SiteQuality
SIO_000300: 5.955e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

QD
type: SiteQuality
SIO_000300: 1.087e1

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

GenotypeQuality
all individuals: 35914
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2750
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1566
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2677
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10721
bin: 6.25e1
variant carriers: 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: 16506
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: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66648
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 5.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 9.93e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.108e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.42e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

DP
type: SiteQuality
SIO_000300: 2.644004e6

VQSLOD
type: SiteQuality
SIO_000300: 4.04e-1

GenotypeQuality
all individuals: 35914
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 14
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2550
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 2.25e1
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: 11560
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66648
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
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: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.644004e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.04e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.42e0

QD
type: SiteQuality
SIO_000300: 1.108e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

MQRankSum
type: SiteQuality
SIO_000300: 9.93e-1

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1677
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35921
bin: 9.75e1
variant carriers: 13

GenotypeQuality
all individuals: 10707
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2700
bin: 6.75e1
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: 16504
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: 6
allele frequency: 5.768121515093252e-4
allele num: 10402
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66646
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.327e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.74e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.524e0

MQRankSum
type: SiteQuality
SIO_000300: -9.0e-2

MQ
type: SiteQuality
SIO_000300: 5.963e1

DP
type: SiteQuality
SIO_000300: 2.645486e6

GenotypeQuality
all individuals: 10
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2750
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
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: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.730403183941858e-4
allele num: 11558
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66640
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.248e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.247e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.229e0

DP
type: SiteQuality
SIO_000300: 2.644475e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.879e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.512e1

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

GenotypeQuality
all individuals: 1677
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1564
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35918
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500690317546071e-5
allele num: 66636
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: 11548
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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

MQ
type: SiteQuality
SIO_000300: 5.935e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.61e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.991e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.28e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.136e0

FS
type: SiteQuality
SIO_000300: 2.651e0

DP
type: SiteQuality
SIO_000300: 2.644083e6

QD
type: SiteQuality
SIO_000300: 1.066e1

GenotypeQuality
all individuals: 2692
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50073536032656e-5
allele num: 66634
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: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.433e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.89e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.35e0

DP
type: SiteQuality
SIO_000300: 2.644066e6

VQSLOD
type: SiteQuality
SIO_000300: -3.947e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.758e0

FS
type: SiteQuality
SIO_000300: 1.002e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

MQ
type: SiteQuality
SIO_000300: 5.977e1

QD
type: SiteQuality
SIO_000300: 1.473e1

GenotypeQuality
all individuals: 35918
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2675
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 2.25e1
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: 11548
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: 1
allele frequency: 6.074596039363382e-5
allele num: 16462
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: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66600
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.554e0

MQ
type: SiteQuality
SIO_000300: 5.872e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.1e0

QD
type: SiteQuality
SIO_000300: 1.209e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.35e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.448e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.01e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.818e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.14e-1

DP
type: SiteQuality
SIO_000300: 2.643203e6

GenotypeQuality
all individuals: 25
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
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variant carriers: 0

GenotypeQuality
all individuals: 1562
bin: 7.25e1
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: 11542
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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: 6
allele frequency: 9.011985941301932e-5
allele num: 66578
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.69e-2

MQ
type: SiteQuality
SIO_000300: 5.975e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.67e0

FS
type: SiteQuality
SIO_000300: 5.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.45e0

MQRankSum
type: SiteQuality
SIO_000300: -1.9e-2

DP
type: SiteQuality
SIO_000300: 2.643956e6

QD
type: SiteQuality
SIO_000300: 1.219e1

GenotypeQuality
all individuals: 2674
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 6

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2675
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variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 3.25e1
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: 3
allele frequency: 2.599653379549393e-4
allele num: 11540
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.885170225043277e-4
allele num: 10398
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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: 16418
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66574
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.832e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.54e-2

FS
type: SiteQuality
SIO_000300: 4.461e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

VQSLOD
type: SiteQuality
SIO_000300: 1.58e0

DP
type: SiteQuality
SIO_000300: 2.643087e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.01e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.6e-2

QD
type: SiteQuality
SIO_000300: 1.117e1

GenotypeQuality
all individuals: 2679
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2672
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66536
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 3.31858407079646e-3
allele num: 904
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
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: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.106497313141182e-5
allele num: 16376
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.954e1

FS
type: SiteQuality
SIO_000300: 1.227e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.139999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.5e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.76e0

DP
type: SiteQuality
SIO_000300: 2.641138e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.9e-3

QD
type: SiteQuality
SIO_000300: 1.427e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.56e0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16362
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.006072265977274e-5
allele num: 66532
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: 9.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.5e-3

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.362e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.397e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.65e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.959e0

DP
type: SiteQuality
SIO_000300: 2.640688e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.41e0

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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bin: 9.75e1
variant carriers: 3

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66414
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10390
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East Asian
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allele count: 3
allele frequency: 3.468208092485549e-4
allele num: 8650
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 1.329e0

MQ
type: SiteQuality
SIO_000300: 5.942e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.44e-1

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 8.200000000000001e-3

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 7.51e-1

DP
type: SiteQuality
SIO_000300: 2.632078e6

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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bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.011957471160507e-5
allele num: 66402
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.677542519958348e-5
allele num: 11524
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16104
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: 8650
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.6e-2

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -4.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.500000000000001e-3

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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MQ
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
all individuals: 80
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

East Asian
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allele frequency: 0.0e0
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Other
type: Population
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 1
allele frequency: 8.70170553428472e-5
allele num: 11492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66276
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15904
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.075e0

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 8.032e0

DP
type: SiteQuality
SIO_000300: 2.619442e6

MQRankSum
type: SiteQuality
SIO_000300: 5.570000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.998e1

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2465
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.020418025854778e-5
allele num: 66216
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.76e0

QD
type: SiteQuality
SIO_000300: 1.117e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.55e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.83e0

DP
type: SiteQuality
SIO_000300: 2.606369e6

VQSLOD
type: SiteQuality
SIO_000300: -2.424e0

MQ
type: SiteQuality
SIO_000300: 5.988e1

FS
type: SiteQuality
SIO_000300: 4.247e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 6.820000000000001e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1523
bin: 7.25e1
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GenotypeQuality
all individuals: 143
bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66184
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.719916288803627e-5
allele num: 11468
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15740
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.5e-2

MQRankSum
type: SiteQuality
SIO_000300: -8.77e-1

QD
type: SiteQuality
SIO_000300: 1.145e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.67e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

FS
type: SiteQuality
SIO_000300: 2.4e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

DP
type: SiteQuality
SIO_000300: 2.602618e6

GenotypeQuality
all individuals: 85
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 716
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GenotypeQuality
all individuals: 2663
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variant carriers: 0

GenotypeQuality
all individuals: 2510
bin: 7.75e1
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GenotypeQuality
all individuals: 55
bin: 1.75e1
variant carriers: 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: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66138
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.733624454148471e-5
allele num: 11450
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15664
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.393e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

MQRankSum
type: SiteQuality
SIO_000300: -5.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.62e0

VQSLOD
type: SiteQuality
SIO_000300: 7.64e-1

FS
type: SiteQuality
SIO_000300: 6.505e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.93e-1

DP
type: SiteQuality
SIO_000300: 2.59734e6

GenotypeQuality
all individuals: 62
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variant carriers: 0

GenotypeQuality
all individuals: 1515
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66138
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.384065372829418e-5
allele num: 15664
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11450
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 7.64e-1

FS
type: SiteQuality
SIO_000300: 6.505e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

MQRankSum
type: SiteQuality
SIO_000300: -5.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.62e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.93e-1

DP
type: SiteQuality
SIO_000300: 2.59734e6

QD
type: SiteQuality
SIO_000300: 1.393e1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2661
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2746
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10338
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15584
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.361532177543796e-4
allele num: 66102
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.732099196646873e-5
allele num: 11452
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.644e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.973e1

DP
type: SiteQuality
SIO_000300: 2.594872e6

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

FS
type: SiteQuality
SIO_000300: 9.63e-1

GenotypeQuality
all individuals: 166
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35929
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2660
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10332
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.514233797698365e-4
allele num: 6604
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66016
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15394
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.65e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.76e-1

DP
type: SiteQuality
SIO_000300: 2.591379e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

QD
type: SiteQuality
SIO_000300: 1.501e1

MQRankSum
type: SiteQuality
SIO_000300: 2.76e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.19e0

MQ
type: SiteQuality
SIO_000300: 5.942e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.2e-1

GenotypeQuality
all individuals: 1327
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2379
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variant carriers: 0

GenotypeQuality
all individuals: 2746
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variant carriers: 0

GenotypeQuality
all individuals: 4976
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515932450050026e-5
allele num: 65966
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15246
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.557e0

DP
type: SiteQuality
SIO_000300: 2.590869e6

FS
type: SiteQuality
SIO_000300: 6.423e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.435e0

QD
type: SiteQuality
SIO_000300: 1.54e1

MQ
type: SiteQuality
SIO_000300: 4.367e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.083e0

VQSLOD
type: SiteQuality
SIO_000300: -3.53e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.81e-1

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 213
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
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: 0
allele frequency: 0.0e0
allele num: 12388
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11428
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.946375957572186e-4
allele num: 10182
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65016
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.56e-1

FS
type: SiteQuality
SIO_000300: 5.351e0

DP
type: SiteQuality
SIO_000300: 3.090912e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.736e0

VQSLOD
type: SiteQuality
SIO_000300: 1.89e0

MQRankSum
type: SiteQuality
SIO_000300: 3.28e-1

QD
type: SiteQuality
SIO_000300: 1.236e1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2524
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GenotypeQuality
all individuals: 29
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10204
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.536570374923171e-5
allele num: 65080
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12586
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.34e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.57e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.999999999999999e-3

MQ
type: SiteQuality
SIO_000300: 5.956e1

QD
type: SiteQuality
SIO_000300: 1.445e1

FS
type: SiteQuality
SIO_000300: 3.779e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.31e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.139999999999999e-1

DP
type: SiteQuality
SIO_000300: 3.095111e6

GenotypeQuality
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bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 37907
bin: 9.75e1
variant carriers: 573

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 15
allele frequency: 2.276867030965392e-3
allele num: 6588
num of homozygotes: 0

African
type: Population
allele count: 10
allele frequency: 9.800078400627205e-4
allele num: 10204
num of homozygotes: 0

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

Other
type: Population
allele count: 6
allele frequency: 7.058823529411765e-3
allele num: 850
num of homozygotes: 1

Latino
type: Population
allele count: 77
allele frequency: 6.739016278662699e-3
allele num: 11426
num of homozygotes: 1

South Asian
type: Population
allele count: 20
allele frequency: 1.58202816010125e-3
allele num: 12642
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 451
allele frequency: 6.928229077055426e-3
allele num: 65096
num of homozygotes: 2

DP
type: SiteQuality
SIO_000300: 3.106049e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.22e-2

FS
type: SiteQuality
SIO_000300: 2.912e0

MQ
type: SiteQuality
SIO_000300: 5.992e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.265e0

QD
type: SiteQuality
SIO_000300: 1.227e1

MQRankSum
type: SiteQuality
SIO_000300: 1.61e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.52e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.67e-1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10214
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65124
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 7.819831091648421e-5
allele num: 12788
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11426
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.29e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-1

DP
type: SiteQuality
SIO_000300: 3.099125e6

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.684e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

MQ
type: SiteQuality
SIO_000300: 5.935e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.57e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.77e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.51e0

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: 2165
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.534542552864991e-5
allele num: 65166
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11436
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: 10218
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12868
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.182e1

DP
type: SiteQuality
SIO_000300: 3.100957e6

MQ
type: SiteQuality
SIO_000300: 4.982e1

MQRankSum
type: SiteQuality
SIO_000300: -5.12e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

FS
type: SiteQuality
SIO_000300: 6.123e0

VQSLOD
type: SiteQuality
SIO_000300: 6.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.69e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.898e0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11434
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13076
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.533319022355791e-5
allele num: 65218
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10232
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.52e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.71e-1

QD
type: SiteQuality
SIO_000300: 2.807e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

DP
type: SiteQuality
SIO_000300: 3.105283e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e0

MQRankSum
type: SiteQuality
SIO_000300: -2.361e0

VQSLOD
type: SiteQuality
SIO_000300: -1.03e0

FS
type: SiteQuality
SIO_000300: 7.75e0

MQ
type: SiteQuality
SIO_000300: 5.078e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 530
bin: 2.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13630
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.528864970645792e-5
allele num: 65408
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10280
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.35e-1

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.894e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.353e0

FS
type: SiteQuality
SIO_000300: 5.932e0

VQSLOD
type: SiteQuality
SIO_000300: -5.642e-1

DP
type: SiteQuality
SIO_000300: 3.11737e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e-1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10286
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13938
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.526810797605961e-5
allele num: 65496
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11446
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.24e-1

DP
type: SiteQuality
SIO_000300: 3.12429e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.162e0

FS
type: SiteQuality
SIO_000300: 1.156e0

QD
type: SiteQuality
SIO_000300: 1.181e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.166e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e0

MQ
type: SiteQuality
SIO_000300: 5.865e1

VQSLOD
type: SiteQuality
SIO_000300: 2.6e-2

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
all individuals: 72
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10322
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14764
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51952590791673e-5
allele num: 65810
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.969e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.745e0

FS
type: SiteQuality
SIO_000300: 1.3952e1

VQSLOD
type: SiteQuality
SIO_000300: -3.654e-1

DP
type: SiteQuality
SIO_000300: 3.137607e6

QD
type: SiteQuality
SIO_000300: 1.466e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

MQRankSum
type: SiteQuality
SIO_000300: -7.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.317e0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14916
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517680983457277e-5
allele num: 65890
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.14e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

FS
type: SiteQuality
SIO_000300: 7.149e0

QD
type: SiteQuality
SIO_000300: 1.456e1

DP
type: SiteQuality
SIO_000300: 3.140482e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.79e0

MQ
type: SiteQuality
SIO_000300: 5.932e1

GenotypeQuality
all individuals: 2684
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 85
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 37710
bin: 9.75e1
variant carriers: 4

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65890
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.681684097613301e-4
allele num: 14916
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.14e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.79e0

MQ
type: SiteQuality
SIO_000300: 5.932e1

DP
type: SiteQuality
SIO_000300: 3.140482e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

FS
type: SiteQuality
SIO_000300: 7.149e0

MQRankSum
type: SiteQuality
SIO_000300: -3.8e-1

QD
type: SiteQuality
SIO_000300: 1.456e1

GenotypeQuality
all individuals: 10021
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variant carriers: 1

GenotypeQuality
all individuals: 34
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GenotypeQuality
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variant carriers: 475

GenotypeQuality
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GenotypeQuality
all individuals: 10
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GenotypeQuality
all individuals: 2799
bin: 6.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.008785654110001e-5
allele num: 66472
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.515610791148833e-4
allele num: 6598
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.740038280842179e-4
allele num: 11494
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

South Asian
type: Population
allele count: 485
allele frequency: 2.961651196873473e-2
allele num: 16376
num of homozygotes: 12

BaseQRankSum
type: SiteQuality
SIO_000300: 3.69e0

DP
type: SiteQuality
SIO_000300: 3.176697e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.45e-2

MQ
type: SiteQuality
SIO_000300: 5.978e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.62e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.02e0

QD
type: SiteQuality
SIO_000300: 1.544e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.31e-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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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66494
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.635767970707265e-5
allele num: 10378
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16400
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -8.195e-1

DP
type: SiteQuality
SIO_000300: 3.167027e6

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-2

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6602
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Other
type: Population
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allele frequency: 0.0e0
allele num: 908
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African
type: Population
allele count: 1
allele frequency: 9.628345850182938e-5
allele num: 10386
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502990951994469e-5
allele num: 66534
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16444
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.33e0

InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.168473e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.38e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.78e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.22e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 21
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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: 6606
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.502674761074713e-5
allele num: 66548
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 5.53e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.167e0

DP
type: SiteQuality
SIO_000300: 3.168986e6

MQ
type: SiteQuality
SIO_000300: 5.977e1

FS
type: SiteQuality
SIO_000300: 2.367e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.66e-2

QD
type: SiteQuality
SIO_000300: 1.909e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.0e-3

GenotypeQuality
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GenotypeQuality
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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 count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6608
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South Asian
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allele count: 1
allele frequency: 6.082725060827251e-5
allele num: 16440
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66548
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: 11512
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -9.399999999999999e-1

InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.92e0

DP
type: SiteQuality
SIO_000300: 3.169225e6

FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.33e0

MQRankSum
type: SiteQuality
SIO_000300: 4.97e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.24e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

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

South Asian
type: Population
allele count: 1
allele frequency: 6.093845216331505e-5
allele num: 16410
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: 10392
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: 908
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.51e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.62e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.35e0

QD
type: SiteQuality
SIO_000300: 1.249e1

FS
type: SiteQuality
SIO_000300: 2.464e0

DP
type: SiteQuality
SIO_000300: 3.169146e6

MQ
type: SiteQuality
SIO_000300: 5.967e1

GenotypeQuality
all individuals: 41
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2181
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 21
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variant carriers: 0

GenotypeQuality
all individuals: 2238
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66550
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: 6606
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.622786759045419e-5
allele num: 10392
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: 16404
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.85e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.4e0

FS
type: SiteQuality
SIO_000300: 8.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.92e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.16e-1

QD
type: SiteQuality
SIO_000300: 1.378e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.982e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.09e-1

DP
type: SiteQuality
SIO_000300: 3.16909e6

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 6

GenotypeQuality
all individuals: 1348
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16384
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.601456815816858e-4
allele num: 11532
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.507888805409467e-5
allele num: 66550
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.094e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.92e0

QD
type: SiteQuality
SIO_000300: 1.412e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.49e-1

DP
type: SiteQuality
SIO_000300: 3.168921e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.81e-1

MQ
type: SiteQuality
SIO_000300: 5.983e1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2230
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variant carriers: 0

GenotypeQuality
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variant carriers: 40

GenotypeQuality
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GenotypeQuality
all individuals: 1346
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2866
bin: 6.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 2
allele frequency: 1.925298421255295e-4
allele num: 10388
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16372
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: 39
allele frequency: 5.859727147064127e-4
allele num: 66556
num of homozygotes: 1

MQ
type: SiteQuality
SIO_000300: 5.957e1

QD
type: SiteQuality
SIO_000300: 1.263e1

MQRankSum
type: SiteQuality
SIO_000300: 1.83e-1

DP
type: SiteQuality
SIO_000300: 3.170051e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.52e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.27e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.96e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.58e0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 2836
bin: 6.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66462
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16188
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.357e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.16e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.316e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.599999999999999e-3

FS
type: SiteQuality
SIO_000300: 9.12e-1

QD
type: SiteQuality
SIO_000300: 9.720000000000001e0

DP
type: SiteQuality
SIO_000300: 3.16331e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.246e0

GenotypeQuality
all individuals: 37645
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 62
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 9655
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variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16192
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504483360414034e-5
allele num: 66468
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.5e0

MQ
type: SiteQuality
SIO_000300: 5.924e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.92e-1

QD
type: SiteQuality
SIO_000300: 1.365e1

FS
type: SiteQuality
SIO_000300: 4.83e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.51e0

DP
type: SiteQuality
SIO_000300: 3.163194e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.68e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2175
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508341126429153e-5
allele num: 66298
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15876
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: 6604
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -7.81e-2

MQ
type: SiteQuality
SIO_000300: 5.889e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.679e0

QD
type: SiteQuality
SIO_000300: 1.833e1

FS
type: SiteQuality
SIO_000300: 1.2675e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.85e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

DP
type: SiteQuality
SIO_000300: 3.151551e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66288
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: 15864
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157675387821255e-4
allele num: 8638
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.3e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.765e0

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 8.199e0

MQRankSum
type: SiteQuality
SIO_000300: -1.714e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

DP
type: SiteQuality
SIO_000300: 3.150713e6

QD
type: SiteQuality
SIO_000300: 8.140000000000001e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66266
num of homozygotes: 0

South Asian
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allele frequency: 6.32351081320349e-5
allele num: 15814
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.983e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.48e-1

DP
type: SiteQuality
SIO_000300: 3.14983e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2718
bin: 6.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.34517766497462e-5
allele num: 15760
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66242
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

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

MQRankSum
type: SiteQuality
SIO_000300: -7.01e-1

DP
type: SiteQuality
SIO_000300: 3.148181e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -1.987e0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66146
num of homozygotes: 0

East Asian
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allele frequency: 1.158480074142725e-4
allele num: 8632
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.137292e6

FS
type: SiteQuality
SIO_000300: 2.569e0

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.107e1

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 3.95e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

VQSLOD
type: SiteQuality
SIO_000300: 9.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-2

GenotypeQuality
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variant carriers: 0

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

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: 10334
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 1
allele frequency: 1.159017153453871e-4
allele num: 8628
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66078
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.128017e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

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

QD
type: SiteQuality
SIO_000300: 1.473e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.2e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.28e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 5.46e-1

FS
type: SiteQuality
SIO_000300: 2.89e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.94e0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514554872323024e-5
allele num: 66026
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11466
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15272
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.1e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

VQSLOD
type: SiteQuality
SIO_000300: 6.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -8.120000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

DP
type: SiteQuality
SIO_000300: 3.123606e6

QD
type: SiteQuality
SIO_000300: 1.338e1

FS
type: SiteQuality
SIO_000300: 7.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.399999999999999e-1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 4
allele frequency: 2.656395271616417e-4
allele num: 15058
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65916
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.091e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e-1

DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.276e1

VQSLOD
type: SiteQuality
SIO_000300: 9.51e-1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.522579859313621e-5
allele num: 65678
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10172
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: 11428
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14618
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.336e1

MQRankSum
type: SiteQuality
SIO_000300: 3.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.257e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.496e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.53e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -9.370000000000001e-2

DP
type: SiteQuality
SIO_000300: 3.093996e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65650
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11420
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.825112988799372e-5
allele num: 10178
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14596
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.092931e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.9e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.48e0

FS
type: SiteQuality
SIO_000300: 1.594e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.872e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

QD
type: SiteQuality
SIO_000300: 1.137e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.86e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14026
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65202
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9922
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11342
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.58e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.525e0

QD
type: SiteQuality
SIO_000300: 3.89e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.49e-1

DP
type: SiteQuality
SIO_000300: 3.075141e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.32e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.181195369714151e-4
allele num: 8466
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64842
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11320
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13730
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9954
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.969342e6

MQ
type: SiteQuality
SIO_000300: 5.939e1

MQRankSum
type: SiteQuality
SIO_000300: 1.35e0

FS
type: SiteQuality
SIO_000300: 7.134e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.73e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.81e-1

QD
type: SiteQuality
SIO_000300: 1.578e1

VQSLOD
type: SiteQuality
SIO_000300: -9.298999999999999e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4759
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2425
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.529051987767584e-4
allele num: 6540
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11326
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.00341159943809e-4
allele num: 9966
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13870
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 2.154973370686205e-4
allele num: 64966
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.54e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.985112e6

MQRankSum
type: SiteQuality
SIO_000300: -5.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.82e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.58e0

QD
type: SiteQuality
SIO_000300: 1.292e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10104
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65356
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11362
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.381978993919292e-4
allele num: 14472
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.800000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.18e-2

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.898e1

FS
type: SiteQuality
SIO_000300: 3.369e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.398e0

DP
type: SiteQuality
SIO_000300: 2.013893e6

MQRankSum
type: SiteQuality
SIO_000300: 6.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.469e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65842
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11434
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
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allele frequency: 1.302422505860901e-4
allele num: 15356
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.245e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.042103e6

MQRankSum
type: SiteQuality
SIO_000300: 4.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.6e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

African
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allele count: 1
allele frequency: 9.733307377846993e-5
allele num: 10274
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11444
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15512
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65902
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.049076e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

FS
type: SiteQuality
SIO_000300: 2.218e0

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -9.45e-1

QD
type: SiteQuality
SIO_000300: 1.186e1

MQ
type: SiteQuality
SIO_000300: 5.861e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.029385034837928e-5
allele num: 66020
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10278
num of homozygotes: 0

Latino
type: Population
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allele frequency: 0.0e0
allele num: 11450
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15706
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.16e-1

DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.007e1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 9.8e-3

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.336e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.01e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15846
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51336299524804e-5
allele num: 66078
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10294
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -6.54e-1

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.985e1

DP
type: SiteQuality
SIO_000300: 2.055457e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 6
allele frequency: 5.825242718446602e-4
allele num: 10300
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66144
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
allele num: 11460
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -8.96e-1

FS
type: SiteQuality
SIO_000300: 5.81e-1

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 6.899999999999999e-1

QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.5109391998066e-5
allele num: 66184
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.15e0

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 9.419999999999999e-1

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.22e-1

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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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

Other
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6576
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African
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allele count: 1
allele frequency: 9.689922480620155e-5
allele num: 10320
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 6
allele frequency: 9.054963629229422e-5
allele num: 66262
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

MQ
type: SiteQuality
SIO_000300: 5.95e1

VQSLOD
type: SiteQuality
SIO_000300: 1.58e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.59e-1

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.064387e6

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.753e0

FS
type: SiteQuality
SIO_000300: 3.678e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.23e-1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.505888022166672e-5
allele num: 66406
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16340
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.47e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.068092e6

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

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.205e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.527173094872489e-5
allele num: 66426
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.92e-1

QD
type: SiteQuality
SIO_000300: 1.298e1

FS
type: SiteQuality
SIO_000300: 1.89e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.78e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.900000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 9.330000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.51e0

DP
type: SiteQuality
SIO_000300: 2.068718e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

South Asian
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allele count: 89
allele frequency: 5.418899171943497e-3
allele num: 16424
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
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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: 66468
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.70170553428472e-5
allele num: 11492
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.02e-1

FS
type: SiteQuality
SIO_000300: 5.47e-1

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 2.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.79e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.1e-1

MQ
type: SiteQuality
SIO_000300: 5.932e1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.074599e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6588
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South Asian
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allele frequency: 6.067961165048543e-5
allele num: 16480
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66512
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African
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allele count: 0
allele frequency: 0.0e0
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Latino
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FS
type: SiteQuality
SIO_000300: 6.175e0

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

MQRankSum
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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bin: 7.25e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.503262078710802e-5
allele num: 66522
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East Asian
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allele num: 8642
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11500
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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South Asian
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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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

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

African
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allele frequency: 1.92975685063682e-4
allele num: 10364
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Latino
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allele frequency: 8.695652173913044e-5
allele num: 11500
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Other
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66522
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East Asian
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
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DP
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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East Asian
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South Asian
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allele frequency: 6.063545961678389e-5
allele num: 16492
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African
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European (Finnish)
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allele frequency: 0.0e0
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Other
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allele num: 906
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European (Non-Finnish)
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allele frequency: 0.0e0
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Latino
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FS
type: SiteQuality
SIO_000300: 5.372e0

MQRankSum
type: SiteQuality
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MQ
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BaseQRankSum
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VQSLOD
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DP
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ClippingRankSum
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QD
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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Latino
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African
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South Asian
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allele num: 16488
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East Asian
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66542
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European (Finnish)
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Other
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DP
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
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BaseQRankSum
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