4-37836320-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37836320
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 37836320
    reference: chr 4
allele count: 4
allele frequency: 3.297935492381769e-5
allele num: 121288
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000371393
  ensembl transcript: ENST00000381967
  gene symbol: PGM2
  hgvsc: ENST00000381967.4:c.330T>C
  hgvsp: ENST00000381967.4:c.330T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000438025
  ensembl transcript: ENST00000544359
  gene symbol: PGM2
  hgvsc: ENST00000544359.1:c.-255T>C
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000437342
  ensembl transcript: ENST00000537241
  gene symbol: PGM2
  hgvsc: ENST00000537241.1:c.-30+4567T>C
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000425733
  ensembl transcript: ENST00000512556
  gene symbol: PGM2
  hgvsc: ENST00000512556.1:c.249+4567T>C
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000423269
  ensembl transcript: ENST00000505986
  gene symbol: PGM2
  hgvsc: ENST00000505986.1:c.330T>C
  hgvsp: ENST00000505986.1:c.330T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000426738
  ensembl transcript: ENST00000515668
  gene symbol: PGM2
  hgvsc: ENST00000515668.1:c.330T>C
  hgvsp: ENST00000515668.1:c.330T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8906
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14380
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19632
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1861
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5118
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16052
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 815
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2284
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2074
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1440
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40756
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
hgvs: p.His110His
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP

4-37836329-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37836329
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 37836328
    reference: chr 4
allele count: 1
allele frequency: 8.247558722618106e-6
allele num: 121248
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000425733
  ensembl transcript: ENST00000512556
  gene symbol: PGM2
  hgvsc: ENST00000512556.1:c.249+4581delG
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000438025
  ensembl transcript: ENST00000544359
  gene symbol: PGM2
  hgvsc: ENST00000544359.1:c.-241delG
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000437342
  ensembl transcript: ENST00000537241
  gene symbol: PGM2
  hgvsc: ENST00000537241.1:c.-30+4581delG
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000426738
  ensembl transcript: ENST00000515668
  gene symbol: PGM2
  hgvsc: ENST00000515668.1:c.344delG
  hgvsp: ENSP00000426738.1:p.Gly115ValfsTer27
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000371393
  ensembl transcript: ENST00000381967
  gene symbol: PGM2
  hgvsc: ENST00000381967.4:c.344delG
  hgvsp: ENSP00000371393.4:p.Gly115ValfsTer27
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000423269
  ensembl transcript: ENST00000505986
  gene symbol: PGM2
  hgvsc: ENST00000505986.1:c.344delG
  hgvsp: ENSP00000423269.1:p.Gly115ValfsTer27
  variant of: http://identifiers.org/hgnc/8906
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19629
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14351
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16042
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1862
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5115
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40742
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2272
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2072
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly115ValfsTer27
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: African
reference allele: TG
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff

4-37836331-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37836331
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 37836331
    reference: chr 4
allele count: 1
allele frequency: 8.248783304462591e-6
allele num: 121230
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000426738
  ensembl transcript: ENST00000515668
  gene symbol: PGM2
  hgvsc: ENST00000515668.1:c.341G>A
  hgvsp: ENSP00000426738.1:p.Gly114Glu
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000438025
  ensembl transcript: ENST00000544359
  gene symbol: PGM2
  hgvsc: ENST00000544359.1:c.-244G>A
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000423269
  ensembl transcript: ENST00000505986
  gene symbol: PGM2
  hgvsc: ENST00000505986.1:c.341G>A
  hgvsp: ENSP00000423269.1:p.Gly114Glu
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000437342
  ensembl transcript: ENST00000537241
  gene symbol: PGM2
  hgvsc: ENST00000537241.1:c.-30+4578G>A
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000371393
  ensembl transcript: ENST00000381967
  gene symbol: PGM2
  hgvsc: ENST00000381967.4:c.341G>A
  hgvsp: ENSP00000371393.4:p.Gly114Glu
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000425733
  ensembl transcript: ENST00000512556
  gene symbol: PGM2
  hgvsc: ENST00000512556.1:c.249+4578G>A
  variant of: http://identifiers.org/hgnc/8906
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19627
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14344
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1862
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16039
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5115
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40728
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2074
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 814
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8624
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly114Glu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

4-37836333-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37836333
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 37836333
    reference: chr 4
allele count: 2
allele frequency: 1.649865535958819e-5
allele num: 121222
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000425733
  ensembl transcript: ENST00000512556
  gene symbol: PGM2
  hgvsc: ENST00000512556.1:c.249+4580G>A
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000426738
  ensembl transcript: ENST00000515668
  gene symbol: PGM2
  hgvsc: ENST00000515668.1:c.343G>A
  hgvsp: ENSP00000426738.1:p.Gly115Ser
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000437342
  ensembl transcript: ENST00000537241
  gene symbol: PGM2
  hgvsc: ENST00000537241.1:c.-30+4580G>A
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000371393
  ensembl transcript: ENST00000381967
  gene symbol: PGM2
  hgvsc: ENST00000381967.4:c.343G>A
  hgvsp: ENSP00000371393.4:p.Gly115Ser
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000423269
  ensembl transcript: ENST00000505986
  gene symbol: PGM2
  hgvsc: ENST00000505986.1:c.343G>A
  hgvsp: ENSP00000423269.1:p.Gly115Ser
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000438025
  ensembl transcript: ENST00000544359
  gene symbol: PGM2
  hgvsc: ENST00000544359.1:c.-242G>A
  variant of: http://identifiers.org/hgnc/8906
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19626
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16032
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5113
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14329
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1861
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8623
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 814
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2071
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40708
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly115Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

4-37836334-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37836334
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 37836334
    reference: chr 4
allele count: 1
allele frequency: 8.249736008447729e-6
allele num: 121216
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000425733
  ensembl transcript: ENST00000512556
  gene symbol: PGM2
  hgvsc: ENST00000512556.1:c.249+4581G>A
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000437342
  ensembl transcript: ENST00000537241
  gene symbol: PGM2
  hgvsc: ENST00000537241.1:c.-30+4581G>A
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000423269
  ensembl transcript: ENST00000505986
  gene symbol: PGM2
  hgvsc: ENST00000505986.1:c.344G>A
  hgvsp: ENSP00000423269.1:p.Gly115Asp
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000438025
  ensembl transcript: ENST00000544359
  gene symbol: PGM2
  hgvsc: ENST00000544359.1:c.-241G>A
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000426738
  ensembl transcript: ENST00000515668
  gene symbol: PGM2
  hgvsc: ENST00000515668.1:c.344G>A
  hgvsp: ENSP00000426738.1:p.Gly115Asp
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000371393
  ensembl transcript: ENST00000381967
  gene symbol: PGM2
  hgvsc: ENST00000381967.4:c.344G>A
  hgvsp: ENSP00000371393.4:p.Gly115Asp
  variant of: http://identifiers.org/hgnc/8906
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19625
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5112
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14332
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16032
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1861
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8624
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3960
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40717
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly115Asp
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

4-37836336-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37836336
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 37836336
    reference: chr 4
allele count: 1
allele frequency: 8.251914444151043e-6
allele num: 121184
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000437342
  ensembl transcript: ENST00000537241
  gene symbol: PGM2
  hgvsc: ENST00000537241.1:c.-30+4583A>G
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000423269
  ensembl transcript: ENST00000505986
  gene symbol: PGM2
  hgvsc: ENST00000505986.1:c.346A>G
  hgvsp: ENSP00000423269.1:p.Ser116Gly
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000425733
  ensembl transcript: ENST00000512556
  gene symbol: PGM2
  hgvsc: ENST00000512556.1:c.249+4583A>G
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000371393
  ensembl transcript: ENST00000381967
  gene symbol: PGM2
  hgvsc: ENST00000381967.4:c.346A>G
  hgvsp: ENSP00000371393.4:p.Ser116Gly
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000438025
  ensembl transcript: ENST00000544359
  gene symbol: PGM2
  hgvsc: ENST00000544359.1:c.-239A>G
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000426738
  ensembl transcript: ENST00000515668
  gene symbol: PGM2
  hgvsc: ENST00000515668.1:c.346A>G
  hgvsp: ENSP00000426738.1:p.Ser116Gly
  variant of: http://identifiers.org/hgnc/8906
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19609
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16020
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1858
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14316
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5114
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2265
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1434
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3959
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser116Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD

4-37836342-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37836342
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 37836342
    reference: chr 4
allele count: 1
allele frequency: 8.260230295220631e-6
allele num: 121062
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000438025
  ensembl transcript: ENST00000544359
  gene symbol: PGM2
  hgvsc: ENST00000544359.1:c.-233A>G
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000426738
  ensembl transcript: ENST00000515668
  gene symbol: PGM2
  hgvsc: ENST00000515668.1:c.352A>G
  hgvsp: ENSP00000426738.1:p.Arg118Gly
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000371393
  ensembl transcript: ENST00000381967
  gene symbol: PGM2
  hgvsc: ENST00000381967.4:c.352A>G
  hgvsp: ENSP00000371393.4:p.Arg118Gly
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000423269
  ensembl transcript: ENST00000505986
  gene symbol: PGM2
  hgvsc: ENST00000505986.1:c.352A>G
  hgvsp: ENSP00000423269.1:p.Arg118Gly
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000437342
  ensembl transcript: ENST00000537241
  gene symbol: PGM2
  hgvsc: ENST00000537241.1:c.-30+4589A>G
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000425733
  ensembl transcript: ENST00000512556
  gene symbol: PGM2
  hgvsc: ENST00000512556.1:c.249+4589A>G
  variant of: http://identifiers.org/hgnc/8906
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15998
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14253
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5106
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19544
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3954
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1433
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg118Gly
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: A
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/4-37836355-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37836355
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 37836355
    reference: chr 4
allele count: 1
allele frequency: 8.287063893262618e-6
allele num: 120670
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000426738
  ensembl transcript: ENST00000515668
  gene symbol: PGM2
  hgvsc: ENST00000515668.1:c.356+9A>C
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000423269
  ensembl transcript: ENST00000505986
  gene symbol: PGM2
  hgvsc: ENST00000505986.1:c.356+9A>C
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000437342
  ensembl transcript: ENST00000537241
  gene symbol: PGM2
  hgvsc: ENST00000537241.1:c.-30+4602A>C
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000438025
  ensembl transcript: ENST00000544359
  gene symbol: PGM2
  hgvsc: ENST00000544359.1:c.-229+9A>C
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000371393
  ensembl transcript: ENST00000381967
  gene symbol: PGM2
  hgvsc: ENST00000381967.4:c.356+9A>C
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000425733
  ensembl transcript: ENST00000512556
  gene symbol: PGM2
  hgvsc: ENST00000512556.1:c.249+4602A>C
  variant of: http://identifiers.org/hgnc/8906
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13930
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1843
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15773
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5027
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39766
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1429
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8440
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2234
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

4-37836355-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37836355
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 37836355
    reference: chr 4
allele count: 1
allele frequency: 8.287063893262618e-6
allele num: 120670
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000425733
  ensembl transcript: ENST00000512556
  gene symbol: PGM2
  hgvsc: ENST00000512556.1:c.249+4602A>G
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000423269
  ensembl transcript: ENST00000505986
  gene symbol: PGM2
  hgvsc: ENST00000505986.1:c.356+9A>G
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000437342
  ensembl transcript: ENST00000537241
  gene symbol: PGM2
  hgvsc: ENST00000537241.1:c.-30+4602A>G
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000426738
  ensembl transcript: ENST00000515668
  gene symbol: PGM2
  hgvsc: ENST00000515668.1:c.356+9A>G
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000438025
  ensembl transcript: ENST00000544359
  gene symbol: PGM2
  hgvsc: ENST00000544359.1:c.-229+9A>G
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000371393
  ensembl transcript: ENST00000381967
  gene symbol: PGM2
  hgvsc: ENST00000381967.4:c.356+9A>G
  variant of: http://identifiers.org/hgnc/8906
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5027
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13930
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1843
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15773
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1429
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3959
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39766
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff

4-37836356-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37836356
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 37836356
    reference: chr 4
allele count: 1
allele frequency: 8.290636555074699e-6
allele num: 120618
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000425733
  ensembl transcript: ENST00000512556
  gene symbol: PGM2
  hgvsc: ENST00000512556.1:c.249+4603C>T
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000437342
  ensembl transcript: ENST00000537241
  gene symbol: PGM2
  hgvsc: ENST00000537241.1:c.-30+4603C>T
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000438025
  ensembl transcript: ENST00000544359
  gene symbol: PGM2
  hgvsc: ENST00000544359.1:c.-229+10C>T
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000426738
  ensembl transcript: ENST00000515668
  gene symbol: PGM2
  hgvsc: ENST00000515668.1:c.356+10C>T
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000423269
  ensembl transcript: ENST00000505986
  gene symbol: PGM2
  hgvsc: ENST00000505986.1:c.356+10C>T
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000371393
  ensembl transcript: ENST00000381967
  gene symbol: PGM2
  hgvsc: ENST00000381967.4:c.356+10C>T
  variant of: http://identifiers.org/hgnc/8906
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5027
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19322
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15779
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13906
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39766
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2227
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2023
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP

4-37836365-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37836365
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 37836365
    reference: chr 4
allele count: 2
allele frequency: 1.667834150572067e-5
allele num: 119916
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000426738
  ensembl transcript: ENST00000515668
  gene symbol: PGM2
  hgvsc: ENST00000515668.1:c.356+19A>G
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000438025
  ensembl transcript: ENST00000544359
  gene symbol: PGM2
  hgvsc: ENST00000544359.1:c.-229+19A>G
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000425733
  ensembl transcript: ENST00000512556
  gene symbol: PGM2
  hgvsc: ENST00000512556.1:c.249+4612A>G
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000371393
  ensembl transcript: ENST00000381967
  gene symbol: PGM2
  hgvsc: ENST00000381967.4:c.356+19A>G
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000423269
  ensembl transcript: ENST00000505986
  gene symbol: PGM2
  hgvsc: ENST00000505986.1:c.356+19A>G
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000437342
  ensembl transcript: ENST00000537241
  gene symbol: PGM2
  hgvsc: ENST00000537241.1:c.-30+4612A>G
  variant of: http://identifiers.org/hgnc/8906
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13027
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18823
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15319
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1834
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4863
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1412
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8144
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 2189
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2116
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

4-37836367-A-ATACACC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37836367
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 37836373
    reference: chr 4
allele count: 3
allele frequency: 2.505512126678693e-5
allele num: 119736
alternate allele: ATACACC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000438025
  ensembl transcript: ENST00000544359
  gene symbol: PGM2
  hgvsc: ENST00000544359.1:c.-229+21_-229+22insTACACC
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000426738
  ensembl transcript: ENST00000515668
  gene symbol: PGM2
  hgvsc: ENST00000515668.1:c.356+21_356+22insTACACC
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000371393
  ensembl transcript: ENST00000381967
  gene symbol: PGM2
  hgvsc: ENST00000381967.4:c.356+21_356+22insTACACC
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000437342
  ensembl transcript: ENST00000537241
  gene symbol: PGM2
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000425733
  ensembl transcript: ENST00000512556
  gene symbol: PGM2
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000423269
  ensembl transcript: ENST00000505986
  gene symbol: PGM2
  hgvsc: ENST00000505986.1:c.356+21_356+22insTACACC
  variant of: http://identifiers.org/hgnc/8906
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2536
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15114
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12701
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18585
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4822
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2584
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1991
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3948
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

4-37836367-A-ATACACCATAGATTTAAAAAGT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37836367
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 37836388
    reference: chr 4
allele count: 1
allele frequency: 8.351707088928977e-6
allele num: 119736
alternate allele: ATACACCATAGATTTAAAAAGT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000438025
  ensembl transcript: ENST00000544359
  gene symbol: PGM2
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000437342
  ensembl transcript: ENST00000537241
  gene symbol: PGM2
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000371393
  ensembl transcript: ENST00000381967
  gene symbol: PGM2
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000425733
  ensembl transcript: ENST00000512556
  gene symbol: PGM2
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000423269
  ensembl transcript: ENST00000505986
  gene symbol: PGM2
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000426738
  ensembl transcript: ENST00000515668
  gene symbol: PGM2
  variant of: http://identifiers.org/hgnc/8906
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 12701
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18585
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15114
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4822
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2536
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2584
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3948
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1991
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2193
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8098
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

4-37836368-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37836368
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 37836368
    reference: chr 4
allele count: 1
allele frequency: 8.384197464618687e-6
allele num: 119272
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000437342
  ensembl transcript: ENST00000537241
  gene symbol: PGM2
  hgvsc: ENST00000537241.1:c.-30+4615A>G
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000371393
  ensembl transcript: ENST00000381967
  gene symbol: PGM2
  hgvsc: ENST00000381967.4:c.356+22A>G
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000438025
  ensembl transcript: ENST00000544359
  gene symbol: PGM2
  hgvsc: ENST00000544359.1:c.-229+22A>G
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000423269
  ensembl transcript: ENST00000505986
  gene symbol: PGM2
  hgvsc: ENST00000505986.1:c.356+22A>G
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000425733
  ensembl transcript: ENST00000512556
  gene symbol: PGM2
  hgvsc: ENST00000512556.1:c.249+4615A>G
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000426738
  ensembl transcript: ENST00000515668
  gene symbol: PGM2
  hgvsc: ENST00000515668.1:c.356+22A>G
  variant of: http://identifiers.org/hgnc/8906
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4851
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14933
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2938
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18384
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12364
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36203
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1933
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2962
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7949
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3895
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

4-37836369-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37836369
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 37836370
    reference: chr 4
allele count: 3
allele frequency: 2.51779239962401e-5
allele num: 119152
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000423269
  ensembl transcript: ENST00000505986
  gene symbol: PGM2
  hgvsc: ENST00000505986.1:c.356+23_356+24insA
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000426738
  ensembl transcript: ENST00000515668
  gene symbol: PGM2
  hgvsc: ENST00000515668.1:c.356+23_356+24insA
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000437342
  ensembl transcript: ENST00000537241
  gene symbol: PGM2
  hgvsc: ENST00000537241.1:c.-30+4616_-30+4617insA
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000425733
  ensembl transcript: ENST00000512556
  gene symbol: PGM2
  hgvsc: ENST00000512556.1:c.249+4616_249+4617insA
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000438025
  ensembl transcript: ENST00000544359
  gene symbol: PGM2
  hgvsc: ENST00000544359.1:c.-229+23_-229+24insA
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000371393
  ensembl transcript: ENST00000381967
  gene symbol: PGM2
  hgvsc: ENST00000381967.4:c.356+23_356+24insA
  variant of: http://identifiers.org/hgnc/8906
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 3345
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14813
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12098
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4808
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18177
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3289
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2139
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35580
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7900
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

4-37836370-G-GATTTAAAAAGT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37836370
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 37836381
    reference: chr 4
allele count: 2
allele frequency: 1.68580050236855e-5
allele num: 118638
alternate allele: GATTTAAAAAGT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000437342
  ensembl transcript: ENST00000537241
  gene symbol: PGM2
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000371393
  ensembl transcript: ENST00000381967
  gene symbol: PGM2
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000425733
  ensembl transcript: ENST00000512556
  gene symbol: PGM2
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000423269
  ensembl transcript: ENST00000505986
  gene symbol: PGM2
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000438025
  ensembl transcript: ENST00000544359
  gene symbol: PGM2
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000426738
  ensembl transcript: ENST00000515668
  gene symbol: PGM2
  variant of: http://identifiers.org/hgnc/8906
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14728
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3800
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17906
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4732
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1859
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11737
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7703
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2068
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1842
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3633
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

4-37836379-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37836379
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 37836379
    reference: chr 4
allele count: 4
allele frequency: 3.394260305822854e-5
allele num: 117846
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000438025
  ensembl transcript: ENST00000544359
  gene symbol: PGM2
  hgvsc: ENST00000544359.1:c.-229+33A>G
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000426738
  ensembl transcript: ENST00000515668
  gene symbol: PGM2
  hgvsc: ENST00000515668.1:c.356+33A>G
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000425733
  ensembl transcript: ENST00000512556
  gene symbol: PGM2
  hgvsc: ENST00000512556.1:c.249+4626A>G
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000371393
  ensembl transcript: ENST00000381967
  gene symbol: PGM2
  hgvsc: ENST00000381967.4:c.356+33A>G
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000423269
  ensembl transcript: ENST00000505986
  gene symbol: PGM2
  hgvsc: ENST00000505986.1:c.356+33A>G
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000437342
  ensembl transcript: ENST00000537241
  gene symbol: PGM2
  hgvsc: ENST00000537241.1:c.-30+4626A>G
  variant of: http://identifiers.org/hgnc/8906
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8004
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16161
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5196
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12441
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3786
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8827
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3373
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1997
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 738
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1932
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2300
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28053
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1594
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

4-37836382-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37836382
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 37836382
    reference: chr 4
allele count: 20
allele frequency: 1.697879348693482e-4
allele num: 117794
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000437342
  ensembl transcript: ENST00000537241
  gene symbol: PGM2
  hgvsc: ENST00000537241.1:c.-30+4629A>T
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000438025
  ensembl transcript: ENST00000544359
  gene symbol: PGM2
  hgvsc: ENST00000544359.1:c.-229+36A>T
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000425733
  ensembl transcript: ENST00000512556
  gene symbol: PGM2
  hgvsc: ENST00000512556.1:c.249+4629A>T
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000426738
  ensembl transcript: ENST00000515668
  gene symbol: PGM2
  hgvsc: ENST00000515668.1:c.356+36A>T
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000423269
  ensembl transcript: ENST00000505986
  gene symbol: PGM2
  hgvsc: ENST00000505986.1:c.356+36A>T
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000371393
  ensembl transcript: ENST00000381967
  gene symbol: PGM2
  hgvsc: ENST00000381967.4:c.356+36A>T
  variant of: http://identifiers.org/hgnc/8906
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7965
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3495
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11169
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8834
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8178
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14803
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3042
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5888
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24624
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3864
  bin: 9.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2809
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

4-37836385-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37836385
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 37836385
    reference: chr 4
allele count: 1
allele frequency: 8.560031500915923e-6
allele num: 116822
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000438025
  ensembl transcript: ENST00000544359
  gene symbol: PGM2
  hgvsc: ENST00000544359.1:c.-229+39T>C
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000425733
  ensembl transcript: ENST00000512556
  gene symbol: PGM2
  hgvsc: ENST00000512556.1:c.249+4632T>C
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000426738
  ensembl transcript: ENST00000515668
  gene symbol: PGM2
  hgvsc: ENST00000515668.1:c.356+39T>C
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000437342
  ensembl transcript: ENST00000537241
  gene symbol: PGM2
  hgvsc: ENST00000537241.1:c.-30+4632T>C
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000423269
  ensembl transcript: ENST00000505986
  gene symbol: PGM2
  hgvsc: ENST00000505986.1:c.356+39T>C
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000371393
  ensembl transcript: ENST00000381967
  gene symbol: PGM2
  hgvsc: ENST00000381967.4:c.356+39T>C
  variant of: http://identifiers.org/hgnc/8906
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3139
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8971
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12574
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12672
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7362
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9556
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4810
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1732
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1224
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3258
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6980
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5688
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/4-37836392-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37836392
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 37836392
    reference: chr 4
allele count: 1
allele frequency: 8.76531739214277e-6
allele num: 114086
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000437342
  ensembl transcript: ENST00000537241
  gene symbol: PGM2
  hgvsc: ENST00000537241.1:c.-30+4639C>A
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000438025
  ensembl transcript: ENST00000544359
  gene symbol: PGM2
  hgvsc: ENST00000544359.1:c.-229+46C>A
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000423269
  ensembl transcript: ENST00000505986
  gene symbol: PGM2
  hgvsc: ENST00000505986.1:c.356+46C>A
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000425733
  ensembl transcript: ENST00000512556
  gene symbol: PGM2
  hgvsc: ENST00000512556.1:c.249+4639C>A
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000371393
  ensembl transcript: ENST00000381967
  gene symbol: PGM2
  hgvsc: ENST00000381967.4:c.356+46C>A
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000426738
  ensembl transcript: ENST00000515668
  gene symbol: PGM2
  hgvsc: ENST00000515668.1:c.356+46C>A
  variant of: http://identifiers.org/hgnc/8906
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9439
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8789
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6470
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14227
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12168
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 848
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3400
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 6304
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1191
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12172
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 390
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6437
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1705
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

4-37839108-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37839108
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 37839108
    reference: chr 4
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000425733
  ensembl transcript: ENST00000512556
  gene symbol: PGM2
  hgvsc: ENST00000512556.1:c.250-2372T>A
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000437342
  ensembl transcript: ENST00000537241
  gene symbol: PGM2
  hgvsc: ENST00000537241.1:c.-29-2372T>A
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000371393
  ensembl transcript: ENST00000381967
  gene symbol: PGM2
  hgvsc: ENST00000381967.4:c.357-43T>A
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000426738
  ensembl transcript: ENST00000515668
  gene symbol: PGM2
  hgvsc: ENST00000515668.1:c.357-43T>A
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000438025
  ensembl transcript: ENST00000544359
  gene symbol: PGM2
  hgvsc: ENST00000544359.1:c.-228-43T>A
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000423269
  ensembl transcript: ENST00000505986
  gene symbol: PGM2
  hgvsc: ENST00000505986.1:c.357-43T>A
  variant of: http://identifiers.org/hgnc/8906
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3574
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5878
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6265
  bin: 4.75e1
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genotype depth: GenotypeDepth
  all individuals: 61
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2023
  bin: 2.75e1
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genotype depth: GenotypeDepth
  all individuals: 5180
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2379
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6795
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genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
  all individuals: 1703
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genotype depth: GenotypeDepth
  all individuals: 1227
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genotype depth: GenotypeDepth
  all individuals: 6921
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 4526
  bin: 9.75e1
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genotype depth: GenotypeDepth
  all individuals: 4757
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 2817
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genotype quality: GenotypeQuality
  all individuals: 3
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 35
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 1093
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genotype quality: GenotypeQuality
  all individuals: 44
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genotype quality: GenotypeQuality
  all individuals: 2
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genotype quality: GenotypeQuality
  all individuals: 9
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genotype quality: GenotypeQuality
  all individuals: 45783
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

4-37839109-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37839109
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 37839109
    reference: chr 4
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000438025
  ensembl transcript: ENST00000544359
  gene symbol: PGM2
  hgvsc: ENST00000544359.1:c.-228-42C>G
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000423269
  ensembl transcript: ENST00000505986
  gene symbol: PGM2
  hgvsc: ENST00000505986.1:c.357-42C>G
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000425733
  ensembl transcript: ENST00000512556
  gene symbol: PGM2
  hgvsc: ENST00000512556.1:c.250-2371C>G
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000371393
  ensembl transcript: ENST00000381967
  gene symbol: PGM2
  hgvsc: ENST00000381967.4:c.357-42C>G
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000437342
  ensembl transcript: ENST00000537241
  gene symbol: PGM2
  hgvsc: ENST00000537241.1:c.-29-2371C>G
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000426738
  ensembl transcript: ENST00000515668
  gene symbol: PGM2
  hgvsc: ENST00000515668.1:c.357-42C>G
  variant of: http://identifiers.org/hgnc/8906
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4526
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6923
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2379
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6795
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4758
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2016
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5877
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
  all individuals: 1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 940
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 3574
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genotype depth: GenotypeDepth
  all individuals: 6265
  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 1969
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genotype quality: GenotypeQuality
  all individuals: 2080
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  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

4-37839112-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37839112
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 37839112
    reference: chr 4
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000437342
  ensembl transcript: ENST00000537241
  gene symbol: PGM2
  hgvsc: ENST00000537241.1:c.-29-2368T>C
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000425733
  ensembl transcript: ENST00000512556
  gene symbol: PGM2
  hgvsc: ENST00000512556.1:c.250-2368T>C
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000423269
  ensembl transcript: ENST00000505986
  gene symbol: PGM2
  hgvsc: ENST00000505986.1:c.357-39T>C
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000426738
  ensembl transcript: ENST00000515668
  gene symbol: PGM2
  hgvsc: ENST00000515668.1:c.357-39T>C
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000438025
  ensembl transcript: ENST00000544359
  gene symbol: PGM2
  hgvsc: ENST00000544359.1:c.-228-39T>C
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000371393
  ensembl transcript: ENST00000381967
  gene symbol: PGM2
  hgvsc: ENST00000381967.4:c.357-39T>C
  variant of: http://identifiers.org/hgnc/8906
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4318
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genotype depth: GenotypeDepth
  all individuals: 6268
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genotype depth: GenotypeDepth
  all individuals: 740
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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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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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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: 4
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD

4-37839118-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37839118
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 37839118
    reference: chr 4
allele count: 3
allele frequency: 2.471739775236463e-5
allele num: 121372
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000423269
  ensembl transcript: ENST00000505986
  gene symbol: PGM2
  hgvsc: ENST00000505986.1:c.357-33C>G
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000425733
  ensembl transcript: ENST00000512556
  gene symbol: PGM2
  hgvsc: ENST00000512556.1:c.250-2362C>G
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000426738
  ensembl transcript: ENST00000515668
  gene symbol: PGM2
  hgvsc: ENST00000515668.1:c.357-33C>G
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000437342
  ensembl transcript: ENST00000537241
  gene symbol: PGM2
  hgvsc: ENST00000537241.1:c.-29-2362C>G
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000371393
  ensembl transcript: ENST00000381967
  gene symbol: PGM2
  hgvsc: ENST00000381967.4:c.357-33C>G
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000438025
  ensembl transcript: ENST00000544359
  gene symbol: PGM2
  hgvsc: ENST00000544359.1:c.-228-33C>G
  variant of: http://identifiers.org/hgnc/8906
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6266
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4328
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3574
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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
genotype depth: GenotypeDepth
  all individuals: 2046
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5879
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4757
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2379
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6920
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2091
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1086
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2943
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45783
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

4-37839120-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37839120
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 37839120
    reference: chr 4
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000437342
  ensembl transcript: ENST00000537241
  gene symbol: PGM2
  hgvsc: ENST00000537241.1:c.-29-2360C>T
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000423269
  ensembl transcript: ENST00000505986
  gene symbol: PGM2
  hgvsc: ENST00000505986.1:c.357-31C>T
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000438025
  ensembl transcript: ENST00000544359
  gene symbol: PGM2
  hgvsc: ENST00000544359.1:c.-228-31C>T
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000426738
  ensembl transcript: ENST00000515668
  gene symbol: PGM2
  hgvsc: ENST00000515668.1:c.357-31C>T
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000425733
  ensembl transcript: ENST00000512556
  gene symbol: PGM2
  hgvsc: ENST00000512556.1:c.250-2360C>T
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000371393
  ensembl transcript: ENST00000381967
  gene symbol: PGM2
  hgvsc: ENST00000381967.4:c.357-31C>T
  variant of: http://identifiers.org/hgnc/8906
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4328
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4759
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3574
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5879
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2378
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6794
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6920
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6265
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3359
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4526
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5186
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2366
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2956
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2095
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2826
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum

4-37839124-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37839124
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 37839124
    reference: chr 4
allele count: 36
allele frequency: 2.965745637882458e-4
allele num: 121386
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000426738
  ensembl transcript: ENST00000515668
  gene symbol: PGM2
  hgvsc: ENST00000515668.1:c.357-27T>C
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000423269
  ensembl transcript: ENST00000505986
  gene symbol: PGM2
  hgvsc: ENST00000505986.1:c.357-27T>C
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000371393
  ensembl transcript: ENST00000381967
  gene symbol: PGM2
  hgvsc: ENST00000381967.4:c.357-27T>C
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000425733
  ensembl transcript: ENST00000512556
  gene symbol: PGM2
  hgvsc: ENST00000512556.1:c.250-2356T>C
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000437342
  ensembl transcript: ENST00000537241
  gene symbol: PGM2
  hgvsc: ENST00000537241.1:c.-29-2356T>C
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000438025
  ensembl transcript: ENST00000544359
  gene symbol: PGM2
  hgvsc: ENST00000544359.1:c.-228-27T>C
  variant of: http://identifiers.org/hgnc/8906
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5873
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6920
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5188
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6263
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4329
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3571
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4545
  bin: 9.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 3369
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6789
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4757
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1996
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2991
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP

4-37839136-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37839136
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 37839136
    reference: chr 4
allele count: 4
allele frequency: 3.295164346321773e-5
allele num: 121390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000425733
  ensembl transcript: ENST00000512556
  gene symbol: PGM2
  hgvsc: ENST00000512556.1:c.250-2344A>G
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000438025
  ensembl transcript: ENST00000544359
  gene symbol: PGM2
  hgvsc: ENST00000544359.1:c.-228-15A>G
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000423269
  ensembl transcript: ENST00000505986
  gene symbol: PGM2
  hgvsc: ENST00000505986.1:c.357-15A>G
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000371393
  ensembl transcript: ENST00000381967
  gene symbol: PGM2
  hgvsc: ENST00000381967.4:c.357-15A>G
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000426738
  ensembl transcript: ENST00000515668
  gene symbol: PGM2
  hgvsc: ENST00000515668.1:c.357-15A>G
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000437342
  ensembl transcript: ENST00000537241
  gene symbol: PGM2
  hgvsc: ENST00000537241.1:c.-29-2344A>G
  variant of: http://identifiers.org/hgnc/8906
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6927
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4328
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2377
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4762
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6792
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  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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genotype depth: GenotypeDepth
  all individuals: 939
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5875
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2098
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genotype quality: GenotypeQuality
  all individuals: 1467
  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2369
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3027
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45784
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2010
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

4-37839136-ACT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37839136
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 37839134
    reference: chr 4
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000425733
  ensembl transcript: ENST00000512556
  gene symbol: PGM2
  hgvsc: ENST00000512556.1:c.250-2341_250-2340delCT
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000437342
  ensembl transcript: ENST00000537241
  gene symbol: PGM2
  hgvsc: ENST00000537241.1:c.-29-2341_-29-2340delCT
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000423269
  ensembl transcript: ENST00000505986
  gene symbol: PGM2
  hgvsc: ENST00000505986.1:c.357-12_357-11delCT
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000426738
  ensembl transcript: ENST00000515668
  gene symbol: PGM2
  hgvsc: ENST00000515668.1:c.357-12_357-11delCT
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000438025
  ensembl transcript: ENST00000544359
  gene symbol: PGM2
  hgvsc: ENST00000544359.1:c.-228-12_-228-11delCT
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000371393
  ensembl transcript: ENST00000381967
  gene symbol: PGM2
  hgvsc: ENST00000381967.4:c.357-12_357-11delCT
  variant of: http://identifiers.org/hgnc/8906
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6927
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6792
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2083
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4525
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6265
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3572
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4762
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2377
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5193
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4328
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3376
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5875
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3027
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2824
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2098
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2369
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2010
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: ACT
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

4-37839139-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37839139
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 37839139
    reference: chr 4
allele count: 38
allele frequency: 3.130354553842098e-4
allele num: 121392
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000437342
  ensembl transcript: ENST00000537241
  gene symbol: PGM2
  hgvsc: ENST00000537241.1:c.-29-2341C>G
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000371393
  ensembl transcript: ENST00000381967
  gene symbol: PGM2
  hgvsc: ENST00000381967.4:c.357-12C>G
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000438025
  ensembl transcript: ENST00000544359
  gene symbol: PGM2
  hgvsc: ENST00000544359.1:c.-228-12C>G
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000423269
  ensembl transcript: ENST00000505986
  gene symbol: PGM2
  hgvsc: ENST00000505986.1:c.357-12C>G
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000425733
  ensembl transcript: ENST00000512556
  gene symbol: PGM2
  hgvsc: ENST00000512556.1:c.250-2341C>G
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000426738
  ensembl transcript: ENST00000515668
  gene symbol: PGM2
  hgvsc: ENST00000515668.1:c.357-12C>G
  variant of: http://identifiers.org/hgnc/8906
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3570
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6787
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4549
  bin: 9.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 4326
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3377
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2375
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4760
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5873
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6924
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6261
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5193
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2097
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45788
  bin: 9.75e1
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3032
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 1
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/4-37839143-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37839143
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 37839143
    reference: chr 4
allele count: 3
allele frequency: 2.471169686985173e-5
allele num: 121400
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000438025
  ensembl transcript: ENST00000544359
  gene symbol: PGM2
  hgvsc: ENST00000544359.1:c.-228-8A>C
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000426738
  ensembl transcript: ENST00000515668
  gene symbol: PGM2
  hgvsc: ENST00000515668.1:c.357-8A>C
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000371393
  ensembl transcript: ENST00000381967
  gene symbol: PGM2
  hgvsc: ENST00000381967.4:c.357-8A>C
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000423269
  ensembl transcript: ENST00000505986
  gene symbol: PGM2
  hgvsc: ENST00000505986.1:c.357-8A>C
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000425733
  ensembl transcript: ENST00000512556
  gene symbol: PGM2
  hgvsc: ENST00000512556.1:c.250-2337A>C
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000437342
  ensembl transcript: ENST00000537241
  gene symbol: PGM2
  hgvsc: ENST00000537241.1:c.-29-2337A>C
  variant of: http://identifiers.org/hgnc/8906
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5196
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4522
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4325
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4762
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3569
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3379
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5876
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6790
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6265
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6930
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2099
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2011
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 7.25e1
  variant carriers: 0
hgvs: c.357-8A>C
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum

4-37839156-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37839156
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 37839156
    reference: chr 4
allele count: 7
allele frequency: 5.765967611736215e-5
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000425733
  ensembl transcript: ENST00000512556
  gene symbol: PGM2
  hgvsc: ENST00000512556.1:c.250-2324C>T
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000437342
  ensembl transcript: ENST00000537241
  gene symbol: PGM2
  hgvsc: ENST00000537241.1:c.-29-2324C>T
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000423269
  ensembl transcript: ENST00000505986
  gene symbol: PGM2
  hgvsc: ENST00000505986.1:c.362C>T
  hgvsp: ENSP00000423269.1:p.Ala121Val
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000371393
  ensembl transcript: ENST00000381967
  gene symbol: PGM2
  hgvsc: ENST00000381967.4:c.362C>T
  hgvsp: ENSP00000371393.4:p.Ala121Val
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000426738
  ensembl transcript: ENST00000515668
  gene symbol: PGM2
  hgvsc: ENST00000515668.1:c.362C>T
  hgvsp: ENSP00000426738.1:p.Ala121Val
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000438025
  ensembl transcript: ENST00000544359
  gene symbol: PGM2
  hgvsc: ENST00000544359.1:c.-223C>T
  variant of: http://identifiers.org/hgnc/8906
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6264
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5195
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3380
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4327
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2102
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4525
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6929
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5875
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4763
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3570
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6790
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2014
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45778
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 2099
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala121Val
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

4-37839158-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37839158
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 37839158
    reference: chr 4
allele count: 3
allele frequency: 2.471128976458378e-5
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000423269
  ensembl transcript: ENST00000505986
  gene symbol: PGM2
  hgvsc: ENST00000505986.1:c.364C>T
  hgvsp: ENSP00000423269.1:p.Arg122Ter
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000426738
  ensembl transcript: ENST00000515668
  gene symbol: PGM2
  hgvsc: ENST00000515668.1:c.364C>T
  hgvsp: ENSP00000426738.1:p.Arg122Ter
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000371393
  ensembl transcript: ENST00000381967
  gene symbol: PGM2
  hgvsc: ENST00000381967.4:c.364C>T
  hgvsp: ENSP00000371393.4:p.Arg122Ter
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000437342
  ensembl transcript: ENST00000537241
  gene symbol: PGM2
  hgvsc: ENST00000537241.1:c.-29-2322C>T
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000425733
  ensembl transcript: ENST00000512556
  gene symbol: PGM2
  hgvsc: ENST00000512556.1:c.250-2322C>T
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000438025
  ensembl transcript: ENST00000544359
  gene symbol: PGM2
  hgvsc: ENST00000544359.1:c.-221C>T
  variant of: http://identifiers.org/hgnc/8906
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5198
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5875
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6264
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6791
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3569
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6927
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4523
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3382
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4762
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4325
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1466
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3059
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2826
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg122Ter
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

4-37839159-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37839159
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 37839159
    reference: chr 4
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000425733
  ensembl transcript: ENST00000512556
  gene symbol: PGM2
  hgvsc: ENST00000512556.1:c.250-2321G>A
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000426738
  ensembl transcript: ENST00000515668
  gene symbol: PGM2
  hgvsc: ENST00000515668.1:c.365G>A
  hgvsp: ENSP00000426738.1:p.Arg122Gln
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000438025
  ensembl transcript: ENST00000544359
  gene symbol: PGM2
  hgvsc: ENST00000544359.1:c.-220G>A
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000371393
  ensembl transcript: ENST00000381967
  gene symbol: PGM2
  hgvsc: ENST00000381967.4:c.365G>A
  hgvsp: ENSP00000371393.4:p.Arg122Gln
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000437342
  ensembl transcript: ENST00000537241
  gene symbol: PGM2
  hgvsc: ENST00000537241.1:c.-29-2321G>A
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000423269
  ensembl transcript: ENST00000505986
  gene symbol: PGM2
  hgvsc: ENST00000505986.1:c.365G>A
  hgvsp: ENSP00000423269.1:p.Arg122Gln
  variant of: http://identifiers.org/hgnc/8906
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6265
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5874
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4524
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3569
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6791
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4762
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3380
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5200
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2106
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6927
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4324
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2102
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2826
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2014
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg122Gln
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

4-37839159-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37839159
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 37839159
    reference: chr 4
allele count: 3
allele frequency: 2.471047559428694e-5
allele num: 121406
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000426738
  ensembl transcript: ENST00000515668
  gene symbol: PGM2
  hgvsc: ENST00000515668.1:c.365G>C
  hgvsp: ENSP00000426738.1:p.Arg122Pro
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000437342
  ensembl transcript: ENST00000537241
  gene symbol: PGM2
  hgvsc: ENST00000537241.1:c.-29-2321G>C
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000423269
  ensembl transcript: ENST00000505986
  gene symbol: PGM2
  hgvsc: ENST00000505986.1:c.365G>C
  hgvsp: ENSP00000423269.1:p.Arg122Pro
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000425733
  ensembl transcript: ENST00000512556
  gene symbol: PGM2
  hgvsc: ENST00000512556.1:c.250-2321G>C
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000438025
  ensembl transcript: ENST00000544359
  gene symbol: PGM2
  hgvsc: ENST00000544359.1:c.-220G>C
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000371393
  ensembl transcript: ENST00000381967
  gene symbol: PGM2
  hgvsc: ENST00000381967.4:c.365G>C
  hgvsp: ENSP00000371393.4:p.Arg122Pro
  variant of: http://identifiers.org/hgnc/8906
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3569
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5874
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6791
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3380
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2106
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6927
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6265
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5200
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4762
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4324
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4524
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 45774
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2369
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg122Pro
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP

4-37839160-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37839160
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 37839160
    reference: chr 4
allele count: 4
allele frequency: 3.294730079238259e-5
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000371393
  ensembl transcript: ENST00000381967
  gene symbol: PGM2
  hgvsc: ENST00000381967.4:c.366A>T
  hgvsp: ENST00000381967.4:c.366A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000437342
  ensembl transcript: ENST00000537241
  gene symbol: PGM2
  hgvsc: ENST00000537241.1:c.-29-2320A>T
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000438025
  ensembl transcript: ENST00000544359
  gene symbol: PGM2
  hgvsc: ENST00000544359.1:c.-219A>T
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000426738
  ensembl transcript: ENST00000515668
  gene symbol: PGM2
  hgvsc: ENST00000515668.1:c.366A>T
  hgvsp: ENST00000515668.1:c.366A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000423269
  ensembl transcript: ENST00000505986
  gene symbol: PGM2
  hgvsc: ENST00000505986.1:c.366A>T
  hgvsp: ENST00000505986.1:c.366A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000425733
  ensembl transcript: ENST00000512556
  gene symbol: PGM2
  hgvsc: ENST00000512556.1:c.250-2320A>T
  variant of: http://identifiers.org/hgnc/8906
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2108
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4525
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6265
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6928
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4325
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3569
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3382
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2375
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4761
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6792
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5199
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5872
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1466
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1086
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3056
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2102
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg122Arg
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD

4-37839164-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37839164
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 37839164
    reference: chr 4
allele count: 4
allele frequency: 3.294730079238259e-5
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000426738
  ensembl transcript: ENST00000515668
  gene symbol: PGM2
  hgvsc: ENST00000515668.1:c.370G>A
  hgvsp: ENSP00000426738.1:p.Ala124Thr
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000423269
  ensembl transcript: ENST00000505986
  gene symbol: PGM2
  hgvsc: ENST00000505986.1:c.370G>A
  hgvsp: ENSP00000423269.1:p.Ala124Thr
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000437342
  ensembl transcript: ENST00000537241
  gene symbol: PGM2
  hgvsc: ENST00000537241.1:c.-29-2316G>A
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000438025
  ensembl transcript: ENST00000544359
  gene symbol: PGM2
  hgvsc: ENST00000544359.1:c.-215G>A
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000371393
  ensembl transcript: ENST00000381967
  gene symbol: PGM2
  hgvsc: ENST00000381967.4:c.370G>A
  hgvsp: ENSP00000371393.4:p.Ala124Thr
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000425733
  ensembl transcript: ENST00000512556
  gene symbol: PGM2
  hgvsc: ENST00000512556.1:c.250-2316G>A
  variant of: http://identifiers.org/hgnc/8906
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5872
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4762
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4325
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2108
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6928
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5201
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6793
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4522
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3570
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6265
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2015
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1086
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala124Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

4-37839166-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37839166
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 37839166
    reference: chr 4
allele count: 13
allele frequency: 1.070787275752434e-4
allele num: 121406
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000371393
  ensembl transcript: ENST00000381967
  gene symbol: PGM2
  hgvsc: ENST00000381967.4:c.372T>C
  hgvsp: ENST00000381967.4:c.372T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000425733
  ensembl transcript: ENST00000512556
  gene symbol: PGM2
  hgvsc: ENST00000512556.1:c.250-2314T>C
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000438025
  ensembl transcript: ENST00000544359
  gene symbol: PGM2
  hgvsc: ENST00000544359.1:c.-213T>C
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000437342
  ensembl transcript: ENST00000537241
  gene symbol: PGM2
  hgvsc: ENST00000537241.1:c.-29-2314T>C
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000426738
  ensembl transcript: ENST00000515668
  gene symbol: PGM2
  hgvsc: ENST00000515668.1:c.372T>C
  hgvsp: ENST00000515668.1:c.372T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000423269
  ensembl transcript: ENST00000505986
  gene symbol: PGM2
  hgvsc: ENST00000505986.1:c.372T>C
  hgvsp: ENST00000505986.1:c.372T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8906
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3570
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6928
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4326
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4757
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2372
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6791
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5872
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2109
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4530
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5200
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6266
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2016
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45770
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2828
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala124Ala
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

4-37839167-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37839167
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 37839167
    reference: chr 4
allele count: 2
allele frequency: 1.647365039619129e-5
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000423269
  ensembl transcript: ENST00000505986
  gene symbol: PGM2
  hgvsc: ENST00000505986.1:c.373G>A
  hgvsp: ENSP00000423269.1:p.Ala125Thr
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000438025
  ensembl transcript: ENST00000544359
  gene symbol: PGM2
  hgvsc: ENST00000544359.1:c.-212G>A
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000371393
  ensembl transcript: ENST00000381967
  gene symbol: PGM2
  hgvsc: ENST00000381967.4:c.373G>A
  hgvsp: ENSP00000371393.4:p.Ala125Thr
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000426738
  ensembl transcript: ENST00000515668
  gene symbol: PGM2
  hgvsc: ENST00000515668.1:c.373G>A
  hgvsp: ENSP00000426738.1:p.Ala125Thr
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000425733
  ensembl transcript: ENST00000512556
  gene symbol: PGM2
  hgvsc: ENST00000512556.1:c.250-2313G>A
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000437342
  ensembl transcript: ENST00000537241
  gene symbol: PGM2
  hgvsc: ENST00000537241.1:c.-29-2313G>A
  variant of: http://identifiers.org/hgnc/8906
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4325
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4759
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2372
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5200
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2109
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3571
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4519
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6794
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6266
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5875
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6929
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45770
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2103
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1086
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1466
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala125Thr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

4-37839170-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37839170
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 37839170
    reference: chr 4
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000425733
  ensembl transcript: ENST00000512556
  gene symbol: PGM2
  hgvsc: ENST00000512556.1:c.250-2310A>G
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000423269
  ensembl transcript: ENST00000505986
  gene symbol: PGM2
  hgvsc: ENST00000505986.1:c.376A>G
  hgvsp: ENSP00000423269.1:p.Thr126Ala
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000426738
  ensembl transcript: ENST00000515668
  gene symbol: PGM2
  hgvsc: ENST00000515668.1:c.376A>G
  hgvsp: ENSP00000426738.1:p.Thr126Ala
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000371393
  ensembl transcript: ENST00000381967
  gene symbol: PGM2
  hgvsc: ENST00000381967.4:c.376A>G
  hgvsp: ENSP00000371393.4:p.Thr126Ala
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000437342
  ensembl transcript: ENST00000537241
  gene symbol: PGM2
  hgvsc: ENST00000537241.1:c.-29-2310A>G
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000438025
  ensembl transcript: ENST00000544359
  gene symbol: PGM2
  hgvsc: ENST00000544359.1:c.-209A>G
  variant of: http://identifiers.org/hgnc/8906
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6794
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5202
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5875
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6266
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4759
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4325
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4519
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6929
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2372
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3570
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2016
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1466
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45770
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2369
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr126Ala
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD

4-37839172-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37839172
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 37839172
    reference: chr 4
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000423269
  ensembl transcript: ENST00000505986
  gene symbol: PGM2
  hgvsc: ENST00000505986.1:c.378C>T
  hgvsp: ENST00000505986.1:c.378C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000437342
  ensembl transcript: ENST00000537241
  gene symbol: PGM2
  hgvsc: ENST00000537241.1:c.-29-2308C>T
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000371393
  ensembl transcript: ENST00000381967
  gene symbol: PGM2
  hgvsc: ENST00000381967.4:c.378C>T
  hgvsp: ENST00000381967.4:c.378C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000426738
  ensembl transcript: ENST00000515668
  gene symbol: PGM2
  hgvsc: ENST00000515668.1:c.378C>T
  hgvsp: ENST00000515668.1:c.378C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000438025
  ensembl transcript: ENST00000544359
  gene symbol: PGM2
  hgvsc: ENST00000544359.1:c.-207C>T
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000425733
  ensembl transcript: ENST00000512556
  gene symbol: PGM2
  hgvsc: ENST00000512556.1:c.250-2308C>T
  variant of: http://identifiers.org/hgnc/8906
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6266
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3570
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6795
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4325
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6929
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4518
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2372
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5876
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4759
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5202
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3060
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2828
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2369
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr126Thr
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

4-37839173-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37839173
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 37839173
    reference: chr 4
allele count: 2
allele frequency: 1.647365039619129e-5
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000426738
  ensembl transcript: ENST00000515668
  gene symbol: PGM2
  hgvsc: ENST00000515668.1:c.379A>G
  hgvsp: ENSP00000426738.1:p.Thr127Ala
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000438025
  ensembl transcript: ENST00000544359
  gene symbol: PGM2
  hgvsc: ENST00000544359.1:c.-206A>G
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000371393
  ensembl transcript: ENST00000381967
  gene symbol: PGM2
  hgvsc: ENST00000381967.4:c.379A>G
  hgvsp: ENSP00000371393.4:p.Thr127Ala
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000425733
  ensembl transcript: ENST00000512556
  gene symbol: PGM2
  hgvsc: ENST00000512556.1:c.250-2307A>G
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000437342
  ensembl transcript: ENST00000537241
  gene symbol: PGM2
  hgvsc: ENST00000537241.1:c.-29-2307A>G
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000423269
  ensembl transcript: ENST00000505986
  gene symbol: PGM2
  hgvsc: ENST00000505986.1:c.379A>G
  hgvsp: ENSP00000423269.1:p.Thr127Ala
  variant of: http://identifiers.org/hgnc/8906
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4520
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3570
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6929
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2372
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5202
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5874
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6795
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4759
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6265
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4325
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2017
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2369
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2103
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr127Ala
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

4-37839175-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37839175
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 37839175
    reference: chr 4
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000371393
  ensembl transcript: ENST00000381967
  gene symbol: PGM2
  hgvsc: ENST00000381967.4:c.381A>G
  hgvsp: ENST00000381967.4:c.381A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000426738
  ensembl transcript: ENST00000515668
  gene symbol: PGM2
  hgvsc: ENST00000515668.1:c.381A>G
  hgvsp: ENST00000515668.1:c.381A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000425733
  ensembl transcript: ENST00000512556
  gene symbol: PGM2
  hgvsc: ENST00000512556.1:c.250-2305A>G
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000437342
  ensembl transcript: ENST00000537241
  gene symbol: PGM2
  hgvsc: ENST00000537241.1:c.-29-2305A>G
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000438025
  ensembl transcript: ENST00000544359
  gene symbol: PGM2
  hgvsc: ENST00000544359.1:c.-204A>G
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000423269
  ensembl transcript: ENST00000505986
  gene symbol: PGM2
  hgvsc: ENST00000505986.1:c.381A>G
  hgvsp: ENST00000505986.1:c.381A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8906
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6265
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6929
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5203
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6796
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3570
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4519
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4325
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5874
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2372
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4759
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2369
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr127Thr
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

4-37839185-CAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37839185
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 37839183
    reference: chr 4
allele count: 3
allele frequency: 2.471006852925672e-5
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000425733
  ensembl transcript: ENST00000512556
  gene symbol: PGM2
  hgvsc: ENST00000512556.1:c.250-2294_250-2293delAG
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000423269
  ensembl transcript: ENST00000505986
  gene symbol: PGM2
  hgvsc: ENST00000505986.1:c.392_393delAG
  hgvsp: ENSP00000423269.1:p.Gln131ArgfsTer9
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000437342
  ensembl transcript: ENST00000537241
  gene symbol: PGM2
  hgvsc: ENST00000537241.1:c.-29-2294_-29-2293delAG
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000438025
  ensembl transcript: ENST00000544359
  gene symbol: PGM2
  hgvsc: ENST00000544359.1:c.-193_-192delAG
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000426738
  ensembl transcript: ENST00000515668
  gene symbol: PGM2
  hgvsc: ENST00000515668.1:c.392_393delAG
  hgvsp: ENSP00000426738.1:p.Gln131ArgfsTer9
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000371393
  ensembl transcript: ENST00000381967
  gene symbol: PGM2
  hgvsc: ENST00000381967.4:c.392_393delAG
  hgvsp: ENSP00000371393.4:p.Gln131ArgfsTer9
  variant of: http://identifiers.org/hgnc/8906
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6796
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4521
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4758
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6929
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4325
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3380
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2372
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6265
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5874
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5203
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3570
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45771
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2017
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2103
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3063
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gln131ArgfsTer9
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: CAG
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

4-37839188-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37839188
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 37839188
    reference: chr 4
allele count: 9
allele frequency: 7.413386929375134e-5
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000438025
  ensembl transcript: ENST00000544359
  gene symbol: PGM2
  hgvsc: ENST00000544359.1:c.-191G>A
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000425733
  ensembl transcript: ENST00000512556
  gene symbol: PGM2
  hgvsc: ENST00000512556.1:c.250-2292G>A
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000437342
  ensembl transcript: ENST00000537241
  gene symbol: PGM2
  hgvsc: ENST00000537241.1:c.-29-2292G>A
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000423269
  ensembl transcript: ENST00000505986
  gene symbol: PGM2
  hgvsc: ENST00000505986.1:c.394G>A
  hgvsp: ENSP00000423269.1:p.Gly132Arg
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000371393
  ensembl transcript: ENST00000381967
  gene symbol: PGM2
  hgvsc: ENST00000381967.4:c.394G>A
  hgvsp: ENSP00000371393.4:p.Gly132Arg
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000426738
  ensembl transcript: ENST00000515668
  gene symbol: PGM2
  hgvsc: ENST00000515668.1:c.394G>A
  hgvsp: ENSP00000426738.1:p.Gly132Arg
  variant of: http://identifiers.org/hgnc/8906
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4758
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3569
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6929
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2371
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5203
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6795
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5873
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6265
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4326
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3379
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4528
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2016
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45770
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1465
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly132Arg
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

4-37839219-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37839219
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 37839219
    reference: chr 4
allele count: 6
allele frequency: 4.942013705851344e-5
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000425733
  ensembl transcript: ENST00000512556
  gene symbol: PGM2
  hgvsc: ENST00000512556.1:c.250-2261C>T
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000371393
  ensembl transcript: ENST00000381967
  gene symbol: PGM2
  hgvsc: ENST00000381967.4:c.425C>T
  hgvsp: ENSP00000371393.4:p.Thr142Met
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000437342
  ensembl transcript: ENST00000537241
  gene symbol: PGM2
  hgvsc: ENST00000537241.1:c.-29-2261C>T
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000426738
  ensembl transcript: ENST00000515668
  gene symbol: PGM2
  hgvsc: ENST00000515668.1:c.425C>T
  hgvsp: ENSP00000426738.1:p.Thr142Met
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000438025
  ensembl transcript: ENST00000544359
  gene symbol: PGM2
  hgvsc: ENST00000544359.1:c.-160C>T
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000423269
  ensembl transcript: ENST00000505986
  gene symbol: PGM2
  hgvsc: ENST00000505986.1:c.425C>T
  hgvsp: ENSP00000423269.1:p.Thr142Met
  variant of: http://identifiers.org/hgnc/8906
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6795
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6930
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5874
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4522
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4326
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3379
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6267
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3568
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2372
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4757
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5204
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3062
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2370
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1088
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2015
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr142Met
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD

4-37839220-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37839220
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 37839220
    reference: chr 4
allele count: 6
allele frequency: 4.942013705851344e-5
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000371393
  ensembl transcript: ENST00000381967
  gene symbol: PGM2
  hgvsc: ENST00000381967.4:c.426G>A
  hgvsp: ENST00000381967.4:c.426G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000425733
  ensembl transcript: ENST00000512556
  gene symbol: PGM2
  hgvsc: ENST00000512556.1:c.250-2260G>A
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000423269
  ensembl transcript: ENST00000505986
  gene symbol: PGM2
  hgvsc: ENST00000505986.1:c.426G>A
  hgvsp: ENST00000505986.1:c.426G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000426738
  ensembl transcript: ENST00000515668
  gene symbol: PGM2
  hgvsc: ENST00000515668.1:c.426G>A
  hgvsp: ENST00000515668.1:c.426G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000438025
  ensembl transcript: ENST00000544359
  gene symbol: PGM2
  hgvsc: ENST00000544359.1:c.-159G>A
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000437342
  ensembl transcript: ENST00000537241
  gene symbol: PGM2
  hgvsc: ENST00000537241.1:c.-29-2260G>A
  variant of: http://identifiers.org/hgnc/8906
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6267
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3378
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5204
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5876
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4326
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3569
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6795
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6932
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4519
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4756
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1088
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3062
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr142Thr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: African
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/4-37839227-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37839227
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 37839227
    reference: chr 4
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000425733
  ensembl transcript: ENST00000512556
  gene symbol: PGM2
  hgvsc: ENST00000512556.1:c.250-2253C>A
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000438025
  ensembl transcript: ENST00000544359
  gene symbol: PGM2
  hgvsc: ENST00000544359.1:c.-152C>A
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000426738
  ensembl transcript: ENST00000515668
  gene symbol: PGM2
  hgvsc: ENST00000515668.1:c.433C>A
  hgvsp: ENSP00000426738.1:p.Pro145Thr
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000437342
  ensembl transcript: ENST00000537241
  gene symbol: PGM2
  hgvsc: ENST00000537241.1:c.-29-2253C>A
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000423269
  ensembl transcript: ENST00000505986
  gene symbol: PGM2
  hgvsc: ENST00000505986.1:c.433C>A
  hgvsp: ENSP00000423269.1:p.Pro145Thr
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000371393
  ensembl transcript: ENST00000381967
  gene symbol: PGM2
  hgvsc: ENST00000381967.4:c.433C>A
  hgvsp: ENSP00000371393.4:p.Pro145Thr
  variant of: http://identifiers.org/hgnc/8906
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4757
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6933
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5205
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5876
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4326
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6267
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4516
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3569
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3378
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6795
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2828
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2102
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1088
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1465
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro145Thr
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

4-37839240-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37839240
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 37839240
    reference: chr 4
allele count: 9
allele frequency: 7.416074754033521e-5
allele num: 121358
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000425733
  ensembl transcript: ENST00000512556
  gene symbol: PGM2
  hgvsc: ENST00000512556.1:c.250-2240G>T
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000437342
  ensembl transcript: ENST00000537241
  gene symbol: PGM2
  hgvsc: ENST00000537241.1:c.-29-2240G>T
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000438025
  ensembl transcript: ENST00000544359
  gene symbol: PGM2
  hgvsc: ENST00000544359.1:c.-144+5G>T
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000426738
  ensembl transcript: ENST00000515668
  gene symbol: PGM2
  hgvsc: ENST00000515668.1:c.441+5G>T
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000371393
  ensembl transcript: ENST00000381967
  gene symbol: PGM2
  hgvsc: ENST00000381967.4:c.441+5G>T
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000423269
  ensembl transcript: ENST00000505986
  gene symbol: PGM2
  hgvsc: ENST00000505986.1:c.441+5G>T
  variant of: http://identifiers.org/hgnc/8906
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3564
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6263
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5879
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2377
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6933
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5202
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4753
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2109
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4528
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3374
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6793
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4323
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3045
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1460
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2826
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 1
hgvs: c.441+5G>T
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/4-37839256-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37839256
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 37839256
    reference: chr 4
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000438025
  ensembl transcript: ENST00000544359
  gene symbol: PGM2
  hgvsc: ENST00000544359.1:c.-144+21A>C
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000425733
  ensembl transcript: ENST00000512556
  gene symbol: PGM2
  hgvsc: ENST00000512556.1:c.250-2224A>C
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000437342
  ensembl transcript: ENST00000537241
  gene symbol: PGM2
  hgvsc: ENST00000537241.1:c.-29-2224A>C
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000371393
  ensembl transcript: ENST00000381967
  gene symbol: PGM2
  hgvsc: ENST00000381967.4:c.441+21A>C
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000426738
  ensembl transcript: ENST00000515668
  gene symbol: PGM2
  hgvsc: ENST00000515668.1:c.441+21A>C
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000423269
  ensembl transcript: ENST00000505986
  gene symbol: PGM2
  hgvsc: ENST00000505986.1:c.441+21A>C
  variant of: http://identifiers.org/hgnc/8906
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4755
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6799
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3561
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2368
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6267
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5202
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6938
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3379
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4330
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4494
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5880
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3024
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1462
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2104
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2007
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1089
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum

4-37839263-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37839263
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 37839263
    reference: chr 4
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000371393
  ensembl transcript: ENST00000381967
  gene symbol: PGM2
  hgvsc: ENST00000381967.4:c.441+28C>T
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000438025
  ensembl transcript: ENST00000544359
  gene symbol: PGM2
  hgvsc: ENST00000544359.1:c.-144+28C>T
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000425733
  ensembl transcript: ENST00000512556
  gene symbol: PGM2
  hgvsc: ENST00000512556.1:c.250-2217C>T
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000423269
  ensembl transcript: ENST00000505986
  gene symbol: PGM2
  hgvsc: ENST00000505986.1:c.441+28C>T
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000426738
  ensembl transcript: ENST00000515668
  gene symbol: PGM2
  hgvsc: ENST00000515668.1:c.441+28C>T
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000437342
  ensembl transcript: ENST00000537241
  gene symbol: PGM2
  hgvsc: ENST00000537241.1:c.-29-2217C>T
  variant of: http://identifiers.org/hgnc/8906
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6938
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3362
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5203
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4329
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4494
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4754
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2368
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5881
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3561
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6799
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2105
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1462
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1986
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: C
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

4-37839271-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37839271
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 37839270
    reference: chr 4
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000423269
  ensembl transcript: ENST00000505986
  gene symbol: PGM2
  hgvsc: ENST00000505986.1:c.441+37delT
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000438025
  ensembl transcript: ENST00000544359
  gene symbol: PGM2
  hgvsc: ENST00000544359.1:c.-144+37delT
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000425733
  ensembl transcript: ENST00000512556
  gene symbol: PGM2
  hgvsc: ENST00000512556.1:c.250-2208delT
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000371393
  ensembl transcript: ENST00000381967
  gene symbol: PGM2
  hgvsc: ENST00000381967.4:c.441+37delT
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000426738
  ensembl transcript: ENST00000515668
  gene symbol: PGM2
  hgvsc: ENST00000515668.1:c.441+37delT
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000437342
  ensembl transcript: ENST00000537241
  gene symbol: PGM2
  hgvsc: ENST00000537241.1:c.-29-2208delT
  variant of: http://identifiers.org/hgnc/8906
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4755
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5880
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6799
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6267
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3302
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5193
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1964
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2367
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6940
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4319
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4494
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1074
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2358
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45719
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2085
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: AT
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD

4-37839273-GATC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37839273
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 37839270
    reference: chr 4
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000423269
  ensembl transcript: ENST00000505986
  gene symbol: PGM2
  hgvsc: ENST00000505986.1:c.441+40_441+42delTCA
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000437342
  ensembl transcript: ENST00000537241
  gene symbol: PGM2
  hgvsc: ENST00000537241.1:c.-29-2205_-29-2203delTCA
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000371393
  ensembl transcript: ENST00000381967
  gene symbol: PGM2
  hgvsc: ENST00000381967.4:c.441+40_441+42delTCA
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000426738
  ensembl transcript: ENST00000515668
  gene symbol: PGM2
  hgvsc: ENST00000515668.1:c.441+40_441+42delTCA
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000438025
  ensembl transcript: ENST00000544359
  gene symbol: PGM2
  hgvsc: ENST00000544359.1:c.-144+40_-144+42delTCA
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000425733
  ensembl transcript: ENST00000512556
  gene symbol: PGM2
  hgvsc: ENST00000512556.1:c.250-2205_250-2203delTCA
  variant of: http://identifiers.org/hgnc/8906
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 6939
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3287
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5199
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4494
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2367
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6799
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6266
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5880
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4318
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4755
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1070
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1925
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1459
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2354
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: GATC
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

4-37839276-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37839276
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 37839276
    reference: chr 4
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000426738
  ensembl transcript: ENST00000515668
  gene symbol: PGM2
  hgvsc: ENST00000515668.1:c.441+41C>T
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000423269
  ensembl transcript: ENST00000505986
  gene symbol: PGM2
  hgvsc: ENST00000505986.1:c.441+41C>T
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000438025
  ensembl transcript: ENST00000544359
  gene symbol: PGM2
  hgvsc: ENST00000544359.1:c.-144+41C>T
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000425733
  ensembl transcript: ENST00000512556
  gene symbol: PGM2
  hgvsc: ENST00000512556.1:c.250-2204C>T
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000437342
  ensembl transcript: ENST00000537241
  gene symbol: PGM2
  hgvsc: ENST00000537241.1:c.-29-2204C>T
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000371393
  ensembl transcript: ENST00000381967
  gene symbol: PGM2
  hgvsc: ENST00000381967.4:c.441+41C>T
  variant of: http://identifiers.org/hgnc/8906
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2367
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3272
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4309
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4753
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5195
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6938
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4495
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6266
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6799
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5881
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2352
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1919
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1459
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2828
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: C
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

4-37839285-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37839285
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 37839285
    reference: chr 4
allele count: 1
allele frequency: 8.24279991427488e-6
allele num: 121318
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000425733
  ensembl transcript: ENST00000512556
  gene symbol: PGM2
  hgvsc: ENST00000512556.1:c.250-2195G>A
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000437342
  ensembl transcript: ENST00000537241
  gene symbol: PGM2
  hgvsc: ENST00000537241.1:c.-29-2195G>A
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000371393
  ensembl transcript: ENST00000381967
  gene symbol: PGM2
  hgvsc: ENST00000381967.4:c.441+50G>A
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000423269
  ensembl transcript: ENST00000505986
  gene symbol: PGM2
  hgvsc: ENST00000505986.1:c.441+50G>A
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000426738
  ensembl transcript: ENST00000515668
  gene symbol: PGM2
  hgvsc: ENST00000515668.1:c.441+50G>A
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000438025
  ensembl transcript: ENST00000544359
  gene symbol: PGM2
  hgvsc: ENST00000544359.1:c.-144+50G>A
  variant of: http://identifiers.org/hgnc/8906
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5130
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2368
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4753
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6797
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6246
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2005
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3559
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6940
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4494
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4195
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5881
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2344
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1692
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2072
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2827
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1686
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1457
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD

4-37841093-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37841093
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 37841093
    reference: chr 4
allele count: 1
allele frequency: 1.398601398601399e-4
allele num: 7150
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000423269
  ensembl transcript: ENST00000505986
  gene symbol: PGM2
  hgvsc: ENST00000505986.1:c.442-46G>C
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000437342
  ensembl transcript: ENST00000537241
  gene symbol: PGM2
  hgvsc: ENST00000537241.1:c.-29-387G>C
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000371393
  ensembl transcript: ENST00000381967
  gene symbol: PGM2
  hgvsc: ENST00000381967.4:c.442-377G>C
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000438025
  ensembl transcript: ENST00000544359
  gene symbol: PGM2
  hgvsc: ENST00000544359.1:c.-143-46G>C
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000425733
  ensembl transcript: ENST00000512556
  gene symbol: PGM2
  hgvsc: ENST00000512556.1:c.250-387G>C
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000426738
  ensembl transcript: ENST00000515668
  gene symbol: PGM2
  hgvsc: ENST00000515668.1:c.442-46G>C
  variant of: http://identifiers.org/hgnc/8906
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4233
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2900
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

4-37841099-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37841099
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 37841099
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 7292
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000425733
  ensembl transcript: ENST00000512556
  gene symbol: PGM2
  hgvsc: ENST00000512556.1:c.250-381G>A
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000426738
  ensembl transcript: ENST00000515668
  gene symbol: PGM2
  hgvsc: ENST00000515668.1:c.442-40G>A
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000437342
  ensembl transcript: ENST00000537241
  gene symbol: PGM2
  hgvsc: ENST00000537241.1:c.-29-381G>A
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000423269
  ensembl transcript: ENST00000505986
  gene symbol: PGM2
  hgvsc: ENST00000505986.1:c.442-40G>A
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000371393
  ensembl transcript: ENST00000381967
  gene symbol: PGM2
  hgvsc: ENST00000381967.4:c.442-371G>A
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000438025
  ensembl transcript: ENST00000544359
  gene symbol: PGM2
  hgvsc: ENST00000544359.1:c.-143-40G>A
  variant of: http://identifiers.org/hgnc/8906
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 4048
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1800
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1145
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 933
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

4-37841130-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37841130
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 37841130
    reference: chr 4
allele count: 1
allele frequency: 1.109139307897072e-4
allele num: 9016
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000426738
  ensembl transcript: ENST00000515668
  gene symbol: PGM2
  hgvsc: ENST00000515668.1:c.442-9C>T
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000423269
  ensembl transcript: ENST00000505986
  gene symbol: PGM2
  hgvsc: ENST00000505986.1:c.442-9C>T
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000425733
  ensembl transcript: ENST00000512556
  gene symbol: PGM2
  hgvsc: ENST00000512556.1:c.250-350C>T
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000437342
  ensembl transcript: ENST00000537241
  gene symbol: PGM2
  hgvsc: ENST00000537241.1:c.-29-350C>T
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000438025
  ensembl transcript: ENST00000544359
  gene symbol: PGM2
  hgvsc: ENST00000544359.1:c.-143-9C>T
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000371393
  ensembl transcript: ENST00000381967
  gene symbol: PGM2
  hgvsc: ENST00000381967.4:c.442-340C>T
  variant of: http://identifiers.org/hgnc/8906
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3645
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2974
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1066
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3115
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 2
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genotype quality: GenotypeQuality
  all individuals: 58
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genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

4-37841143-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37841143
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 37841143
    reference: chr 4
allele count: 5
allele frequency: 5.081300813008131e-4
allele num: 9840
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000423269
  ensembl transcript: ENST00000505986
  gene symbol: PGM2
  hgvsc: ENST00000505986.1:c.446A>G
  hgvsp: ENSP00000423269.1:p.Glu149Gly
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000371393
  ensembl transcript: ENST00000381967
  gene symbol: PGM2
  hgvsc: ENST00000381967.4:c.442-327A>G
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000425733
  ensembl transcript: ENST00000512556
  gene symbol: PGM2
  hgvsc: ENST00000512556.1:c.250-337A>G
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000437342
  ensembl transcript: ENST00000537241
  gene symbol: PGM2
  hgvsc: ENST00000537241.1:c.-29-337A>G
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000426738
  ensembl transcript: ENST00000515668
  gene symbol: PGM2
  hgvsc: ENST00000515668.1:c.446A>G
  hgvsp: ENSP00000426738.1:p.Glu149Gly
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000438025
  ensembl transcript: ENST00000544359
  gene symbol: PGM2
  hgvsc: ENST00000544359.1:c.-139A>G
  variant of: http://identifiers.org/hgnc/8906
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3530
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 793
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  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3540
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
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genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 3654
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 161
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu149Gly
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

4-37841169-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37841169
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 37841169
    reference: chr 4
allele count: 2
allele frequency: 1.871958068139274e-4
allele num: 10684
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000425733
  ensembl transcript: ENST00000512556
  gene symbol: PGM2
  hgvsc: ENST00000512556.1:c.250-311C>G
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000438025
  ensembl transcript: ENST00000544359
  gene symbol: PGM2
  hgvsc: ENST00000544359.1:c.-113C>G
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000437342
  ensembl transcript: ENST00000537241
  gene symbol: PGM2
  hgvsc: ENST00000537241.1:c.-29-311C>G
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000371393
  ensembl transcript: ENST00000381967
  gene symbol: PGM2
  hgvsc: ENST00000381967.4:c.442-301C>G
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000423269
  ensembl transcript: ENST00000505986
  gene symbol: PGM2
  hgvsc: ENST00000505986.1:c.472C>G
  hgvsp: ENSP00000423269.1:p.Leu158Val
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000426738
  ensembl transcript: ENST00000515668
  gene symbol: PGM2
  hgvsc: ENST00000515668.1:c.472C>G
  hgvsp: ENSP00000426738.1:p.Leu158Val
  variant of: http://identifiers.org/hgnc/8906
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4019
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3991
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3526
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4785
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu158Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

4-37841180-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37841180
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 37841180
    reference: chr 4
allele count: 3
allele frequency: 2.793816353138387e-4
allele num: 10738
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000425733
  ensembl transcript: ENST00000512556
  gene symbol: PGM2
  hgvsc: ENST00000512556.1:c.250-300G>A
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000438025
  ensembl transcript: ENST00000544359
  gene symbol: PGM2
  hgvsc: ENST00000544359.1:c.-102G>A
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000426738
  ensembl transcript: ENST00000515668
  gene symbol: PGM2
  hgvsc: ENST00000515668.1:c.483G>A
  hgvsp: ENST00000515668.1:c.483G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000371393
  ensembl transcript: ENST00000381967
  gene symbol: PGM2
  hgvsc: ENST00000381967.4:c.442-290G>A
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000423269
  ensembl transcript: ENST00000505986
  gene symbol: PGM2
  hgvsc: ENST00000505986.1:c.483G>A
  hgvsp: ENST00000505986.1:c.483G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000437342
  ensembl transcript: ENST00000537241
  gene symbol: PGM2
  hgvsc: ENST00000537241.1:c.-29-300G>A
  variant of: http://identifiers.org/hgnc/8906
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4335
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 464
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
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genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
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genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4017
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genotype depth: GenotypeDepth
  all individuals: 0
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genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
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genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
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genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
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genotype quality: GenotypeQuality
  all individuals: 5
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 4927
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2
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genotype quality: GenotypeQuality
  all individuals: 10
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genotype quality: GenotypeQuality
  all individuals: 336
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genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3923
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser161Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

4-37841206-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37841206
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 37841206
    reference: chr 4
allele count: 1
allele frequency: 9.206407659731172e-5
allele num: 10862
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000426738
  ensembl transcript: ENST00000515668
  gene symbol: PGM2
  hgvsc: ENST00000515668.1:c.509T>A
  hgvsp: ENSP00000426738.1:p.Leu170Gln
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000425733
  ensembl transcript: ENST00000512556
  gene symbol: PGM2
  hgvsc: ENST00000512556.1:c.250-274T>A
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000423269
  ensembl transcript: ENST00000505986
  gene symbol: PGM2
  hgvsc: ENST00000505986.1:c.509T>A
  hgvsp: ENSP00000423269.1:p.Leu170Gln
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000371393
  ensembl transcript: ENST00000381967
  gene symbol: PGM2
  hgvsc: ENST00000381967.4:c.442-264T>A
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000438025
  ensembl transcript: ENST00000544359
  gene symbol: PGM2
  hgvsc: ENST00000544359.1:c.-76T>A
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000437342
  ensembl transcript: ENST00000537241
  gene symbol: PGM2
  hgvsc: ENST00000537241.1:c.-29-274T>A
  variant of: http://identifiers.org/hgnc/8906
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4058
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5059
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
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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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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
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genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 3
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genotype quality: GenotypeQuality
  all individuals: 22
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4624
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genotype quality: GenotypeQuality
  all individuals: 4994
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu170Gln
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum

4-37841232-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37841232
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 37841232
    reference: chr 4
allele count: 2
allele frequency: 1.808645324651836e-4
allele num: 11058
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000438025
  ensembl transcript: ENST00000544359
  gene symbol: PGM2
  hgvsc: ENST00000544359.1:c.-50G>A
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000426738
  ensembl transcript: ENST00000515668
  gene symbol: PGM2
  hgvsc: ENST00000515668.1:c.535G>A
  hgvsp: ENSP00000426738.1:p.Ala179Thr
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000371393
  ensembl transcript: ENST00000381967
  gene symbol: PGM2
  hgvsc: ENST00000381967.4:c.442-238G>A
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000437342
  ensembl transcript: ENST00000537241
  gene symbol: PGM2
  hgvsc: ENST00000537241.1:c.-29-248G>A
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000423269
  ensembl transcript: ENST00000505986
  gene symbol: PGM2
  hgvsc: ENST00000505986.1:c.535G>A
  hgvsp: ENSP00000423269.1:p.Ala179Thr
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000425733
  ensembl transcript: ENST00000512556
  gene symbol: PGM2
  hgvsc: ENST00000512556.1:c.250-248G>A
  variant of: http://identifiers.org/hgnc/8906
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4080
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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
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6218
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1141
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genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 159
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 893
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 48
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 5615
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 617
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 292
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala179Thr
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

4-37841247-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37841247
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 37841247
    reference: chr 4
allele count: 1
allele frequency: 8.819897689186806e-5
allele num: 11338
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000437342
  ensembl transcript: ENST00000537241
  gene symbol: PGM2
  hgvsc: ENST00000537241.1:c.-29-233C>T
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000423269
  ensembl transcript: ENST00000505986
  gene symbol: PGM2
  hgvsc: ENST00000505986.1:c.550C>T
  hgvsp: ENSP00000423269.1:p.Leu184Phe
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000371393
  ensembl transcript: ENST00000381967
  gene symbol: PGM2
  hgvsc: ENST00000381967.4:c.442-223C>T
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000425733
  ensembl transcript: ENST00000512556
  gene symbol: PGM2
  hgvsc: ENST00000512556.1:c.250-233C>T
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000426738
  ensembl transcript: ENST00000515668
  gene symbol: PGM2
  hgvsc: ENST00000515668.1:c.550C>T
  hgvsp: ENSP00000426738.1:p.Leu184Phe
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000438025
  ensembl transcript: ENST00000544359
  gene symbol: PGM2
  hgvsc: ENST00000544359.1:c.-35C>T
  variant of: http://identifiers.org/hgnc/8906
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7375
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4109
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6622
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5045
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu184Phe
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

4-37841260-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37841260
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 37841260
    reference: chr 4
allele count: 1
allele frequency: 8.695652173913044e-5
allele num: 11500
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000426738
  ensembl transcript: ENST00000515668
  gene symbol: PGM2
  hgvsc: ENST00000515668.1:c.563T>C
  hgvsp: ENSP00000426738.1:p.Ile188Thr
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000425733
  ensembl transcript: ENST00000512556
  gene symbol: PGM2
  hgvsc: ENST00000512556.1:c.250-220T>C
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000371393
  ensembl transcript: ENST00000381967
  gene symbol: PGM2
  hgvsc: ENST00000381967.4:c.442-210T>C
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000423269
  ensembl transcript: ENST00000505986
  gene symbol: PGM2
  hgvsc: ENST00000505986.1:c.563T>C
  hgvsp: ENSP00000423269.1:p.Ile188Thr
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000438025
  ensembl transcript: ENST00000544359
  gene symbol: PGM2
  hgvsc: ENST00000544359.1:c.-22T>C
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000437342
  ensembl transcript: ENST00000537241
  gene symbol: PGM2
  hgvsc: ENST00000537241.1:c.-29-220T>C
  variant of: http://identifiers.org/hgnc/8906
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4134
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8849
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5057
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8067
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ile188Thr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum

4-37841306-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37841306
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 37841306
    reference: chr 4
allele count: 1
allele frequency: 7.856693903205531e-5
allele num: 12728
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000423269
  ensembl transcript: ENST00000505986
  gene symbol: PGM2
  hgvsc: ENST00000505986.1:c.*20+1G>C
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000426738
  ensembl transcript: ENST00000515668
  gene symbol: PGM2
  hgvsc: ENST00000515668.1:c.*20+1G>C
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000438025
  ensembl transcript: ENST00000544359
  gene symbol: PGM2
  hgvsc: ENST00000544359.1:c.24+1G>C
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000425733
  ensembl transcript: ENST00000512556
  gene symbol: PGM2
  hgvsc: ENST00000512556.1:c.250-174G>C
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000371393
  ensembl transcript: ENST00000381967
  gene symbol: PGM2
  hgvsc: ENST00000381967.4:c.442-164G>C
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000437342
  ensembl transcript: ENST00000537241
  gene symbol: PGM2
  hgvsc: ENST00000537241.1:c.-29-174G>C
  variant of: http://identifiers.org/hgnc/8906
canonical: false
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19724
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3534
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3396
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1724
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 4031
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 18000
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.75e1
  variant carriers: 1
hgvs: c.*20+1G>C
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/4-37841309-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37841309
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 37841309
    reference: chr 4
allele count: 13
allele frequency: 1.007127362875736e-3
allele num: 12908
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000438025
  ensembl transcript: ENST00000544359
  gene symbol: PGM2
  hgvsc: ENST00000544359.1:c.24+4A>C
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000423269
  ensembl transcript: ENST00000505986
  gene symbol: PGM2
  hgvsc: ENST00000505986.1:c.*20+4A>C
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000425733
  ensembl transcript: ENST00000512556
  gene symbol: PGM2
  hgvsc: ENST00000512556.1:c.250-171A>C
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000426738
  ensembl transcript: ENST00000515668
  gene symbol: PGM2
  hgvsc: ENST00000515668.1:c.*20+4A>C
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000437342
  ensembl transcript: ENST00000537241
  gene symbol: PGM2
  hgvsc: ENST00000537241.1:c.-29-171A>C
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000371393
  ensembl transcript: ENST00000381967
  gene symbol: PGM2
  hgvsc: ENST00000381967.4:c.442-161A>C
  variant of: http://identifiers.org/hgnc/8906
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20623
  bin: 2.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3290
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3381
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 106
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1671
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3843
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18943
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3566
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 1.25e1
  variant carriers: 1
hgvs: c.*20+4A>C
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

4-37841317-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37841317
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 37841317
    reference: chr 4
allele count: 1
allele frequency: 7.601094557616297e-5
allele num: 13156
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000438025
  ensembl transcript: ENST00000544359
  gene symbol: PGM2
  hgvsc: ENST00000544359.1:c.24+12C>T
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000423269
  ensembl transcript: ENST00000505986
  gene symbol: PGM2
  hgvsc: ENST00000505986.1:c.*20+12C>T
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000426738
  ensembl transcript: ENST00000515668
  gene symbol: PGM2
  hgvsc: ENST00000515668.1:c.*20+12C>T
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000437342
  ensembl transcript: ENST00000537241
  gene symbol: PGM2
  hgvsc: ENST00000537241.1:c.-29-163C>T
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000425733
  ensembl transcript: ENST00000512556
  gene symbol: PGM2
  hgvsc: ENST00000512556.1:c.250-163C>T
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000371393
  ensembl transcript: ENST00000381967
  gene symbol: PGM2
  hgvsc: ENST00000381967.4:c.442-153C>T
  variant of: http://identifiers.org/hgnc/8906
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2005
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23150
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3643
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2856
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4122
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21199
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1958
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

4-37841354-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37841354
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 37841354
    reference: chr 4
allele count: 51
allele frequency: 3.238095238095238e-3
allele num: 15750
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000437342
  ensembl transcript: ENST00000537241
  gene symbol: PGM2
  hgvsc: ENST00000537241.1:c.-29-126A>G
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000426738
  ensembl transcript: ENST00000515668
  gene symbol: PGM2
  hgvsc: ENST00000515668.1:c.*20+49A>G
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000438025
  ensembl transcript: ENST00000544359
  gene symbol: PGM2
  hgvsc: ENST00000544359.1:c.24+49A>G
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000371393
  ensembl transcript: ENST00000381967
  gene symbol: PGM2
  hgvsc: ENST00000381967.4:c.442-116A>G
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000423269
  ensembl transcript: ENST00000505986
  gene symbol: PGM2
  hgvsc: ENST00000505986.1:c.*20+49A>G
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000425733
  ensembl transcript: ENST00000512556
  gene symbol: PGM2
  hgvsc: ENST00000512556.1:c.250-126A>G
  variant of: http://identifiers.org/hgnc/8906
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33842
  bin: 2.5e0
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 2997
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  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2554
  bin: 1.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 11552
  bin: 7.5e0
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 1.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 9.75e1
  variant carriers: 50
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 5.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 8.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2542
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32605
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1103
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1032
  bin: 1.75e1
  variant carriers: 7
num of homozygotes: 2
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum

4-37841425-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37841425
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 37841424
    reference: chr 4
allele count: 1
allele frequency: 8.528493697443158e-6
allele num: 117254
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000426738
  ensembl transcript: ENST00000515668
  gene symbol: PGM2
  hgvsc: ENST00000515668.1:c.*21-41delT
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000423269
  ensembl transcript: ENST00000505986
  gene symbol: PGM2
  hgvsc: ENST00000505986.1:c.*21-41delT
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000438025
  ensembl transcript: ENST00000544359
  gene symbol: PGM2
  hgvsc: ENST00000544359.1:c.25-41delT
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000371393
  ensembl transcript: ENST00000381967
  gene symbol: PGM2
  hgvsc: ENST00000381967.4:c.442-41delT
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000425733
  ensembl transcript: ENST00000512556
  gene symbol: PGM2
  hgvsc: ENST00000512556.1:c.250-51delT
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000437342
  ensembl transcript: ENST00000537241
  gene symbol: PGM2
  hgvsc: ENST00000537241.1:c.-29-51delT
  variant of: http://identifiers.org/hgnc/8906
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 9043
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9490
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2452
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18046
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4971
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7548
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2580
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4084
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3462
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4142
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5576
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1384
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2010
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
reference allele: AT
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

4-37841427-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37841427
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 37841427
    reference: chr 4
allele count: 1
allele frequency: 8.516001566944289e-6
allele num: 117426
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000423269
  ensembl transcript: ENST00000505986
  gene symbol: PGM2
  hgvsc: ENST00000505986.1:c.*21-43T>G
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000426738
  ensembl transcript: ENST00000515668
  gene symbol: PGM2
  hgvsc: ENST00000515668.1:c.*21-43T>G
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000437342
  ensembl transcript: ENST00000537241
  gene symbol: PGM2
  hgvsc: ENST00000537241.1:c.-29-53T>G
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000425733
  ensembl transcript: ENST00000512556
  gene symbol: PGM2
  hgvsc: ENST00000512556.1:c.250-53T>G
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000371393
  ensembl transcript: ENST00000381967
  gene symbol: PGM2
  hgvsc: ENST00000381967.4:c.442-43T>G
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000438025
  ensembl transcript: ENST00000544359
  gene symbol: PGM2
  hgvsc: ENST00000544359.1:c.25-43T>G
  variant of: http://identifiers.org/hgnc/8906
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20038
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7269
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9616
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2458
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5028
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3039
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2446
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1647
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5760
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2198
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2642
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

4-37841428-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37841428
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 37841428
    reference: chr 4
allele count: 2
allele frequency: 1.703519471227556e-5
allele num: 117404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000426738
  ensembl transcript: ENST00000515668
  gene symbol: PGM2
  hgvsc: ENST00000515668.1:c.*21-42T>A
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000371393
  ensembl transcript: ENST00000381967
  gene symbol: PGM2
  hgvsc: ENST00000381967.4:c.442-42T>A
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000438025
  ensembl transcript: ENST00000544359
  gene symbol: PGM2
  hgvsc: ENST00000544359.1:c.25-42T>A
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000425733
  ensembl transcript: ENST00000512556
  gene symbol: PGM2
  hgvsc: ENST00000512556.1:c.250-52T>A
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000437342
  ensembl transcript: ENST00000537241
  gene symbol: PGM2
  hgvsc: ENST00000537241.1:c.-29-52T>A
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000423269
  ensembl transcript: ENST00000505986
  gene symbol: PGM2
  hgvsc: ENST00000505986.1:c.*21-42T>A
  variant of: http://identifiers.org/hgnc/8906
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6326
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9690
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20968
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7056
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2457
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5077
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2033
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3537
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3657
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2063
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17648
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1185
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1655
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1314
  bin: 2.75e1
  variant carriers: 0
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: T
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD

4-37841430-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37841430
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 37841430
    reference: chr 4
allele count: 29997
allele frequency: 2.545570264765784e-1
allele num: 117840
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000423269
  ensembl transcript: ENST00000505986
  gene symbol: PGM2
  hgvsc: ENST00000505986.1:c.*21-40C>T
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000438025
  ensembl transcript: ENST00000544359
  gene symbol: PGM2
  hgvsc: ENST00000544359.1:c.25-40C>T
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000426738
  ensembl transcript: ENST00000515668
  gene symbol: PGM2
  hgvsc: ENST00000515668.1:c.*21-40C>T
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000371393
  ensembl transcript: ENST00000381967
  gene symbol: PGM2
  hgvsc: ENST00000381967.4:c.442-40C>T
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000437342
  ensembl transcript: ENST00000537241
  gene symbol: PGM2
  hgvsc: ENST00000537241.1:c.-29-50C>T
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000425733
  ensembl transcript: ENST00000512556
  gene symbol: PGM2
  hgvsc: ENST00000512556.1:c.250-50C>T
  variant of: http://identifiers.org/hgnc/8906
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4926
  bin: 1.25e1
  variant carriers: 1212
genotype depth: GenotypeDepth
  all individuals: 2246
  bin: 4.25e1
  variant carriers: 1367
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 5.75e1
  variant carriers: 357
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 7.5e0
  variant carriers: 200
genotype depth: GenotypeDepth
  all individuals: 17574
  bin: 2.25e1
  variant carriers: 4868
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 5.25e1
  variant carriers: 549
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 4.75e1
  variant carriers: 790
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.75e1
  variant carriers: 101
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 7.25e1
  variant carriers: 216
genotype depth: GenotypeDepth
  all individuals: 10781
  bin: 2.75e1
  variant carriers: 4735
genotype depth: GenotypeDepth
  all individuals: 6845
  bin: 3.25e1
  variant carriers: 3606
genotype depth: GenotypeDepth
  all individuals: 3732
  bin: 3.75e1
  variant carriers: 2242
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 6.75e1
  variant carriers: 252
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 102
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 9.75e1
  variant carriers: 1152
genotype depth: GenotypeDepth
  all individuals: 6244
  bin: 1.75e1
  variant carriers: 3271
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 6.25e1
  variant carriers: 321
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.75e1
  variant carriers: 134
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 128
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 2.5e0
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 5.75e1
  variant carriers: 180
genotype quality: GenotypeQuality
  all individuals: 3656
  bin: 6.75e1
  variant carriers: 374
genotype quality: GenotypeQuality
  all individuals: 2089
  bin: 3.75e1
  variant carriers: 132
genotype quality: GenotypeQuality
  all individuals: 1334
  bin: 2.25e1
  variant carriers: 52
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 1.25e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 882
  bin: 8.75e1
  variant carriers: 188
genotype quality: GenotypeQuality
  all individuals: 1773
  bin: 3.25e1
  variant carriers: 91
genotype quality: GenotypeQuality
  all individuals: 1551
  bin: 4.75e1
  variant carriers: 229
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 5.25e1
  variant carriers: 320
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 2.75e1
  variant carriers: 63
genotype quality: GenotypeQuality
  all individuals: 11167
  bin: 6.25e1
  variant carriers: 305
num of homozygotes: 4678
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

4-37841431-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37841431
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 37841431
    reference: chr 4
allele count: 3
allele frequency: 2.532756990409294e-5
allele num: 118448
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000371393
  ensembl transcript: ENST00000381967
  gene symbol: PGM2
  hgvsc: ENST00000381967.4:c.442-39G>A
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000437342
  ensembl transcript: ENST00000537241
  gene symbol: PGM2
  hgvsc: ENST00000537241.1:c.-29-49G>A
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000426738
  ensembl transcript: ENST00000515668
  gene symbol: PGM2
  hgvsc: ENST00000515668.1:c.*21-39G>A
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000438025
  ensembl transcript: ENST00000544359
  gene symbol: PGM2
  hgvsc: ENST00000544359.1:c.25-39G>A
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000425733
  ensembl transcript: ENST00000512556
  gene symbol: PGM2
  hgvsc: ENST00000512556.1:c.250-49G>A
  variant of: http://identifiers.org/hgnc/8906
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169299
  ensembl protein: ENSP00000423269
  ensembl transcript: ENST00000505986
  gene symbol: PGM2
  hgvsc: ENST00000505986.1:c.*21-39G>A
  variant of: http://identifiers.org/hgnc/8906
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11133
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4584
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5688
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7127
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2381
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17733
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4025
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 9.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 8630
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 560
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3969
bin: 9.75e1
variant carriers: 4

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

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.25e1
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: 6614
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66690
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.423361201987156e-4
allele num: 16506
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.14e-1

FS
type: SiteQuality
SIO_000300: 1.222e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.78e0

MQRankSum
type: SiteQuality
SIO_000300: 4.0e-2

MQ
type: SiteQuality
SIO_000300: 5.952e1

VQSLOD
type: SiteQuality
SIO_000300: 1.67e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.8e-2

QD
type: SiteQuality
SIO_000300: 1.343e1

DP
type: SiteQuality
SIO_000300: 1.862955e6

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3964
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1435
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8625
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 815
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66680
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 3.566e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.26e-1

QD
type: SiteQuality
SIO_000300: 1.365e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

DP
type: SiteQuality
SIO_000300: 1.861924e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.18e0

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

MQRankSum
type: SiteQuality
SIO_000300: 7.75e-1

MQ
type: SiteQuality
SIO_000300: 5.983e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

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

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 24
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1436
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2267
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3963
bin: 9.75e1
variant carriers: 1

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: 11552
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499790029395885e-5
allele num: 66676
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.42e0

MQRankSum
type: SiteQuality
SIO_000300: -8.1e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.556e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.83e0

DP
type: SiteQuality
SIO_000300: 1.861719e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.83e-1

QD
type: SiteQuality
SIO_000300: 2.36e1

GenotypeQuality
all individuals: 2266
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3962
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 555
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1436
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 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: 66666
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.212121212121212e-4
allele num: 16500
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.204e1

MQRankSum
type: SiteQuality
SIO_000300: 1.58e0

VQSLOD
type: SiteQuality
SIO_000300: 2.7e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.99e0

FS
type: SiteQuality
SIO_000300: 3.439e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.400000000000001e-2

DP
type: SiteQuality
SIO_000300: 1.861047e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.2e-2

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

GenotypeQuality
all individuals: 172
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1435
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 814
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2070
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2264
bin: 7.75e1
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: 11552
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10326
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06134076857801e-5
allele num: 16498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66664
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.6e-2

FS
type: SiteQuality
SIO_000300: 1.367e0

MQ
type: SiteQuality
SIO_000300: 5.8e1

DP
type: SiteQuality
SIO_000300: 1.861006e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.917e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.74e-1

QD
type: SiteQuality
SIO_000300: 1.369e1

VQSLOD
type: SiteQuality
SIO_000300: -1.035e0

GenotypeQuality
all individuals: 2069
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40687
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 814
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8614
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500420117632937e-5
allele num: 66648
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
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: 908
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 1.86028e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.742e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.679999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.74e-1

MQ
type: SiteQuality
SIO_000300: 5.869e1

MQRankSum
type: SiteQuality
SIO_000300: 8.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e-1

FS
type: SiteQuality
SIO_000300: 1.056e0

QD
type: SiteQuality
SIO_000300: 1.41e1

GenotypeQuality
all individuals: 329
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 40553
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2256
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2059
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8597
bin: 6.75e1
variant carriers: 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: 16480
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501681883709755e-5
allele num: 66592
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: 10280
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -8.999999999999999e-3

DP
type: SiteQuality
SIO_000300: 1.857663e6

MQ
type: SiteQuality
SIO_000300: 5.855e1

QD
type: SiteQuality
SIO_000300: 1.162e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 4.783e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.15e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.64e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.64e0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3959
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 30
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2030
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 810
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10182
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505661286437003e-5
allele num: 66416
num of homozygotes: 0

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.96e0

MQRankSum
type: SiteQuality
SIO_000300: 1.49e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.03e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.916e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.84409e6

FS
type: SiteQuality
SIO_000300: 9.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-1

QD
type: SiteQuality
SIO_000300: 1.606e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

GenotypeQuality
all individuals: 43
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2234
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8440
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2030
bin: 7.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16394
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: 10182
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505661286437003e-5
allele num: 66416
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.84409e6

MQRankSum
type: SiteQuality
SIO_000300: 1.49e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.96e0

VQSLOD
type: SiteQuality
SIO_000300: -1.916e-1

QD
type: SiteQuality
SIO_000300: 1.606e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.03e-1

FS
type: SiteQuality
SIO_000300: 9.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8412
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1424
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3946
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16376
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10182
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: 1
allele frequency: 1.506069459923492e-5
allele num: 66398
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 4.75e-1

QD
type: SiteQuality
SIO_000300: 8.869999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.156e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 3.915e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.851e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

DP
type: SiteQuality
SIO_000300: 1.844491e6

GenotypeQuality
all individuals: 3942
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 165
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37745
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 800
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 543
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1993
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16288
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514784294716432e-5
allele num: 66016
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10082
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.722958827634333e-5
allele num: 11464
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.63e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.47e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.45e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.81e-1

DP
type: SiteQuality
SIO_000300: 1.814351e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.22e-1

QD
type: SiteQuality
SIO_000300: 1.692e1

GenotypeQuality
all individuals: 136
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1415
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36974
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 802
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 541
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8098
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2193
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16286
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.034901365705614e-5
allele num: 65900
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.167406023815083e-4
allele num: 8566
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.02e-1

FS
type: SiteQuality
SIO_000300: 4.486e0

DP
type: SiteQuality
SIO_000300: 1.801987e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.09e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.606e0

QD
type: SiteQuality
SIO_000300: 6.6e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.912e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

MQ
type: SiteQuality
SIO_000300: 5.083e1

GenotypeQuality
all individuals: 36974
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 589
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1415
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16286
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517450682852807e-5
allele num: 65900
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 6.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.02e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.912e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.39e-1

FS
type: SiteQuality
SIO_000300: 4.486e0

MQ
type: SiteQuality
SIO_000300: 5.083e1

MQRankSum
type: SiteQuality
SIO_000300: -1.606e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

DP
type: SiteQuality
SIO_000300: 1.801987e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.09e-1

GenotypeQuality
all individuals: 2136
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 521
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 776
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1364
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 1.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16172
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65664
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10020
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.31e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.795619e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.5e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.971e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.99e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.399999999999999e-1

QD
type: SiteQuality
SIO_000300: 2.104e1

GenotypeQuality
all individuals: 204
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3893
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 774
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1926
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1367
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 521
bin: 8.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11414
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16178
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.049338293590291e-5
allele num: 65588
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9992
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.175088131609871e-4
allele num: 8510
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.058e-1

QD
type: SiteQuality
SIO_000300: 2.72e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.003e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e-1

FS
type: SiteQuality
SIO_000300: 6.654e0

MQRankSum
type: SiteQuality
SIO_000300: -1.733e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

DP
type: SiteQuality
SIO_000300: 1.787121e6

MQ
type: SiteQuality
SIO_000300: 5.449e1

GenotypeQuality
all individuals: 208
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3868
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 509
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1324
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 947
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34670
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9968
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.530362389813908e-5
allele num: 65344
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11354
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.180358829084042e-4
allele num: 8472
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16036
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.46e-1

DP
type: SiteQuality
SIO_000300: 1.779133e6

MQRankSum
type: SiteQuality
SIO_000300: -1.733e0

VQSLOD
type: SiteQuality
SIO_000300: -8.345e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.46e-1

FS
type: SiteQuality
SIO_000300: 4.434e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.08e-1

MQ
type: SiteQuality
SIO_000300: 5.432e1

QD
type: SiteQuality
SIO_000300: 6.0e-1

GenotypeQuality
all individuals: 6311
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 157
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6303
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3863
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1263
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 548
bin: 4.25e1
variant carriers: 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: 15992
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64910
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.067520846044336e-4
allele num: 9834
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11316
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.48e0

MQRankSum
type: SiteQuality
SIO_000300: -4.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.653897e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

FS
type: SiteQuality
SIO_000300: 3.509e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.68e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.29e-1

QD
type: SiteQuality
SIO_000300: 1.537e1

GenotypeQuality
all individuals: 937
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6881
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4466
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1257
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 729
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1911
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1552
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8336
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 2.004008016032064e-4
allele num: 64870
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9784
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 6.169575180680416e-4
allele num: 11346
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16032
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.44e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.72e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.4e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.7e-2

DP
type: SiteQuality
SIO_000300: 1.602106e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.81e0

GenotypeQuality
all individuals: 19391
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1844
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1457
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 712
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1667
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5196
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3841
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6518
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64330
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11264
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9720
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.208313194780087e-4
allele num: 8276
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15838
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.33e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

QD
type: SiteQuality
SIO_000300: 2.014e1

FS
type: SiteQuality
SIO_000300: 4.638e0

MQRankSum
type: SiteQuality
SIO_000300: -3.97e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.79e0

VQSLOD
type: SiteQuality
SIO_000300: -1.692e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.38e-1

DP
type: SiteQuality
SIO_000300: 1.540301e6

GenotypeQuality
all individuals: 1864
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4628
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3343
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3838
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 457
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6712
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6448
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15360
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11034
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62808
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.051524710830704e-4
allele num: 9510
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.46e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.98e-1

MQ
type: SiteQuality
SIO_000300: 5.871e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.888e0

VQSLOD
type: SiteQuality
SIO_000300: -4.657e-1

DP
type: SiteQuality
SIO_000300: 1.463905e6

QD
type: SiteQuality
SIO_000300: 8.59e0

GenotypeQuality
all individuals: 47
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2362
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1459
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2098
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2754
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1973
bin: 6.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499205421126803e-5
allele num: 66702
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

VQSLOD
type: SiteQuality
SIO_000300: -4.34e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.92e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.038e0

MQRankSum
type: SiteQuality
SIO_000300: 1.57e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.603956e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.83e-1

QD
type: SiteQuality
SIO_000300: 1.251e1

MQ
type: SiteQuality
SIO_000300: 5.908e1

GenotypeQuality
all individuals: 1089
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2817
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2776
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1458
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2363
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45780
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 69
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 3.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.646031471554557e-5
allele num: 11566
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.3e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.99e-1

DP
type: SiteQuality
SIO_000300: 3.604276e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.16e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

QD
type: SiteQuality
SIO_000300: 1.429e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.83e0

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1977
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2824
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2091
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66716
num of homozygotes: 0

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.695e0

FS
type: SiteQuality
SIO_000300: 4.424e0

DP
type: SiteQuality
SIO_000300: 3.604851e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e0

VQSLOD
type: SiteQuality
SIO_000300: 6.18e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.187e0

QD
type: SiteQuality
SIO_000300: 1.391e1

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

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

GenotypeQuality
all individuals: 1461
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2825
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2365
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variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1984
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
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: 3
allele frequency: 3.466605038132656e-4
allele num: 8654
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.51e-1

FS
type: SiteQuality
SIO_000300: 5.887e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.900000000000001e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.1e0

DP
type: SiteQuality
SIO_000300: 3.605647e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.6e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.68e0

QD
type: SiteQuality
SIO_000300: 1.65e1

GenotypeQuality
all individuals: 1985
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45783
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1462
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.800000000000001e-3

VQSLOD
type: SiteQuality
SIO_000300: -5.275e-1

MQ
type: SiteQuality
SIO_000300: 5.903e1

DP
type: SiteQuality
SIO_000300: 3.605774e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.235e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.036e0

QD
type: SiteQuality
SIO_000300: 1.468e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.42e0

MQRankSum
type: SiteQuality
SIO_000300: 4.55e-1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 36

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1463
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variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

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

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

Latino
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allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

East Asian
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allele count: 36
allele frequency: 4.159926045759187e-3
allele num: 8654
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.51e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.93e0

BaseQRankSum
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SIO_000300: 5.17e0

QD
type: SiteQuality
SIO_000300: 1.558e1

DP
type: SiteQuality
SIO_000300: 3.607438e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66724
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: 4
allele frequency: 3.843936190659235e-4
allele num: 10406
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.399999999999999e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.99e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.16e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.24e-1

DP
type: SiteQuality
SIO_000300: 3.606749e6

QD
type: SiteQuality
SIO_000300: 1.296e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.13e-1

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 45784
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 1467
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

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

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 5.16e0

DP
type: SiteQuality
SIO_000300: 3.606749e6

MQRankSum
type: SiteQuality
SIO_000300: 6.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.399999999999999e-3

MQ
type: SiteQuality
SIO_000300: 5.974e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.13e-1

QD
type: SiteQuality
SIO_000300: 1.296e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.24e-1

GenotypeQuality
all individuals: 2367
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 2822
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 32
allele frequency: 3.697712040674833e-3
allele num: 8654
num of homozygotes: 1

South Asian
type: Population
allele count: 6
allele frequency: 3.634161114476075e-4
allele num: 16510
num of homozygotes: 0

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

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.31e0

FS
type: SiteQuality
SIO_000300: 1.465e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.58e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.48e-2

DP
type: SiteQuality
SIO_000300: 3.608685e6

MQRankSum
type: SiteQuality
SIO_000300: 5.09e-1

QD
type: SiteQuality
SIO_000300: 1.556e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.53e0

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
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 1467
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variant carriers: 0

GenotypeQuality
all individuals: 2370
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GenotypeQuality
all individuals: 2825
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997062878379188e-5
allele num: 66732
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e-1

DP
type: SiteQuality
SIO_000300: 3.606537e6

VQSLOD
type: SiteQuality
SIO_000300: 3.44e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

QD
type: SiteQuality
SIO_000300: 1.355e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.26e-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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1466
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

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

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

South Asian
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allele frequency: 4.239341085271318e-4
allele num: 16512
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
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MQRankSum
type: SiteQuality
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MQ
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.65e-1

BaseQRankSum
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DP
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

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

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

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

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

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

DP
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 8.29e-1

MQ
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SIO_000300: 5.991e1

BaseQRankSum
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SIO_000300: 2.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.8e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.659999999999999e-1

QD
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

Other
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allele num: 908
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
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South Asian
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allele num: 16512
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.61e0

VQSLOD
type: SiteQuality
SIO_000300: 2.34e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

MQRankSum
type: SiteQuality
SIO_000300: 6.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

QD
type: SiteQuality
SIO_000300: 1.321e1

DP
type: SiteQuality
SIO_000300: 3.606741e6

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 8.74e-1

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 4.61e0

QD
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MQ
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SIO_000300: 5.982e1

FS
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2827
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GenotypeQuality
all individuals: 2015
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 45772
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variant carriers: 4

GenotypeQuality
all individuals: 0
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GenotypeQuality
all individuals: 2369
bin: 8.25e1
variant carriers: 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: 4
allele frequency: 5.993586862057598e-5
allele num: 66738
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
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SIO_000300: 2.0e-4

VQSLOD
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FS
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.609e0

MQ
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SIO_000300: 5.967e1

ClippingRankSum
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SIO_000300: 1.38e-1

DP
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MQRankSum
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QD
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GenotypeQuality
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bin: 9.75e1
variant carriers: 4

GenotypeQuality
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variant carriers: 0

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

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

African
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allele frequency: 3.843936190659235e-4
allele num: 10406
num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.104e0

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

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

Other
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allele num: 908
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.64823638706584e-4
allele num: 66738
num of homozygotes: 0

Latino
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allele frequency: 1.728011059270779e-4
allele num: 11574
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8654
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

ReadPosRankSum
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VQSLOD
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DP
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MQRankSum
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InbreedingCoeff
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FS
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QD
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BaseQRankSum
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SIO_000300: 2.42e-1

ClippingRankSum
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SIO_000300: -8.87e-1

MQ
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SIO_000300: 5.975e1

GenotypeQuality
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variant carriers: 0

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

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

InbreedingCoeff
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QD
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MQ
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SIO_000300: 6.0e1

ClippingRankSum
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MQRankSum
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FS
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ReadPosRankSum
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DP
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VQSLOD
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BaseQRankSum
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GenotypeQuality
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variant carriers: 0

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

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

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

African
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allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 5.0e0

ReadPosRankSum
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SIO_000300: 7.63e-1

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

Latino
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num of homozygotes: 0

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

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

Other
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allele num: 908
num of homozygotes: 0

VQSLOD
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SIO_000300: -2.987e0

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

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

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

VQSLOD
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ClippingRankSum
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MQ
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DP
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ReadPosRankSum
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FS
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BaseQRankSum
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MQRankSum
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QD
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InbreedingCoeff
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GenotypeQuality
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variant carriers: 1

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

Latino
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num of homozygotes: 0

African
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allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

East Asian
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European (Non-Finnish)
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European (Finnish)
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South Asian
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InbreedingCoeff
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FS
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ReadPosRankSum
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VQSLOD
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QD
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BaseQRankSum
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MQ
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MQRankSum
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DP
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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European (Finnish)
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Latino
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Other
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African
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European (Non-Finnish)
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allele frequency: 2.996703626011388e-5
allele num: 66740
num of homozygotes: 0

BaseQRankSum
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VQSLOD
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FS
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ClippingRankSum
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DP
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QD
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MQ
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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East Asian
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Latino
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European (Non-Finnish)
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South Asian
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European (Finnish)
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African
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BaseQRankSum
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FS
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InbreedingCoeff
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MQRankSum
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MQ
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VQSLOD
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DP
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ClippingRankSum
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Other
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East Asian
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South Asian
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European (Finnish)
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Latino
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European (Non-Finnish)
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allele count: 5
allele frequency: 7.491759065028469e-5
allele num: 66740
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.234e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.1e0

MQRankSum
type: SiteQuality
SIO_000300: 1.83e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.78e-1

MQ
type: SiteQuality
SIO_000300: 5.915e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 3.60649e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e-1

QD
type: SiteQuality
SIO_000300: 1.114e1

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

GenotypeQuality
all individuals: 2014
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45770
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 1465
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2828
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.993407252022775e-5
allele num: 66740
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.95e1

MQRankSum
type: SiteQuality
SIO_000300: 1.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.637e0

FS
type: SiteQuality
SIO_000300: 5.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.49e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

DP
type: SiteQuality
SIO_000300: 3.60631e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.37e-1

QD
type: SiteQuality
SIO_000300: 1.194e1

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 3063
bin: 6.25e1
variant carriers: 0

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

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
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: 2.368e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 3.605533e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.87e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.81e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -6.465e-1

QD
type: SiteQuality
SIO_000300: 7.48e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.498e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.55e-1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2008
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2363
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variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 8.993075331994364e-5
allele num: 66718
num of homozygotes: 0

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

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

African
type: Population
allele count: 3
allele frequency: 2.887391722810395e-4
allele num: 10390
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: 16512
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.767e0

VQSLOD
type: SiteQuality
SIO_000300: -1.172e1

QD
type: SiteQuality
SIO_000300: 2.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 4.6897e1

MQ
type: SiteQuality
SIO_000300: 5.905e1

DP
type: SiteQuality
SIO_000300: 3.60638e6

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2828
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2364
bin: 8.25e1
variant carriers: 0

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

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

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

European (Finnish)
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: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.33e0

VQSLOD
type: SiteQuality
SIO_000300: 2.31e0

MQ
type: SiteQuality
SIO_000300: 6.039e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.2e-1

FS
type: SiteQuality
SIO_000300: 3.317e0

QD
type: SiteQuality
SIO_000300: 1.208e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.13e-1

DP
type: SiteQuality
SIO_000300: 3.601234e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.38e-1

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

GenotypeQuality
all individuals: 73
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variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2362
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45724
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2934
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

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

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 3.600107e6

QD
type: SiteQuality
SIO_000300: 1.218e1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.787e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.4e-1

FS
type: SiteQuality
SIO_000300: 4.439e0

MQ
type: SiteQuality
SIO_000300: 5.928e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.554e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
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variant carriers: 0

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

GenotypeQuality
all individuals: 56
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variant carriers: 0

GenotypeQuality
all individuals: 2731
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1459
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1927
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variant carriers: 0

GenotypeQuality
all individuals: 2829
bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49907057624273e-5
allele num: 66708
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -3.711e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.1e-3

MQ
type: SiteQuality
SIO_000300: 5.633e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.551e0

DP
type: SiteQuality
SIO_000300: 3.597626e6

MQRankSum
type: SiteQuality
SIO_000300: -2.445e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.43e0

FS
type: SiteQuality
SIO_000300: 4.258e0

QD
type: SiteQuality
SIO_000300: 3.84e0

GenotypeQuality
all individuals: 2761
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2830
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2085
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45719
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

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

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

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

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

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

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

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

QD
type: SiteQuality
SIO_000300: 9.82e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-2

FS
type: SiteQuality
SIO_000300: 3.051e1

DP
type: SiteQuality
SIO_000300: 3.597556e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.274e0

VQSLOD
type: SiteQuality
SIO_000300: -1.358e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e0

GenotypeQuality
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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: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2666
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 2.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.512401693889897e-4
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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66694
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.413e0

QD
type: SiteQuality
SIO_000300: 6.55e0

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 9.58e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.749e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.2e-1

DP
type: SiteQuality
SIO_000300: 3.596682e6

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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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
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499655079331754e-5
allele num: 66682
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -9.48e-1

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

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.591283e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.710000000000001e0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 240
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variant carriers: 0

GenotypeQuality
all individuals: 30
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 683
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 128
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 146
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 2.029220779220779e-4
allele num: 4928
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1786
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 68
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 94
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.578e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.69e-2

DP
type: SiteQuality
SIO_000300: 7.3407e4

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.0e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: NaN
allele num: 0
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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Latino
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South Asian
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FS
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MQ
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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DP
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MQRankSum
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QD
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
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Other
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South Asian
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East Asian
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: NaN
allele num: 0
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European (Non-Finnish)
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allele frequency: 4.562043795620438e-4
allele num: 2192
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ReadPosRankSum
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QD
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MQ
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VQSLOD
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FS
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DP
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele num: 0
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 4.118616144975288e-4
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South Asian
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allele num: 6904
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African
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East Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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Latino
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BaseQRankSum
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DP
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FS
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QD
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VQSLOD
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MQ
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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SIO_000300: -4.63e-2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2672
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African
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allele frequency: 1.030927835051546e-2
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European (Finnish)
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allele num: 0
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Latino
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allele count: 0
allele frequency: 0.0e0
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South Asian
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Other
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East Asian
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InbreedingCoeff
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VQSLOD
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DP
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ReadPosRankSum
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BaseQRankSum
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FS
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MQ
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ClippingRankSum
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MQRankSum
type: SiteQuality
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 3.70919881305638e-4
allele num: 2696
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: NaN
allele num: 0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 1.01010101010101e-2
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Other
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allele frequency: 0.0e0
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MQRankSum
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SIO_000300: -4.78e-1

QD
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VQSLOD
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DP
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MQ
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SIO_000300: 6.0e1

FS
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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SIO_000300: -5.629999999999999e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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Latino
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 208
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European (Finnish)
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allele count: 0
allele frequency: NaN
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East Asian
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allele frequency: 0.0e0
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VQSLOD
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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FS
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DP
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ClippingRankSum
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MQ
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QD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Other
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European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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allele num: 0
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Latino
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East Asian
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South Asian
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allele frequency: 2.663825253063399e-4
allele num: 7508
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MQ
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FS
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BaseQRankSum
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QD
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MQRankSum
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DP
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 3.64963503649635e-3
allele num: 274
num of homozygotes: 0

European (Finnish)
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Other
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East Asian
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European (Non-Finnish)
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South Asian
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Latino
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DP
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ClippingRankSum
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BaseQRankSum
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QD
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MQ
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MQRankSum
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VQSLOD
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FS
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InbreedingCoeff
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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Other
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European (Finnish)
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East Asian
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Latino
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African
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DP
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ReadPosRankSum
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QD
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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VQSLOD
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MQ
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FS
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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Other
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Latino
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European (Finnish)
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African
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South Asian
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MQ
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FS
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DP
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QD
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 251
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 4.901960784313725e-3
allele num: 204
num of homozygotes: 0

African
type: Population
allele count: 12
allele frequency: 1.759530791788856e-2
allele num: 682
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4436
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7138
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 148
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.85e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.96996e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.52e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.89e-1

QD
type: SiteQuality
SIO_000300: 1.558e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.389999999999999e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.4e0

GenotypeQuality
all individuals: 223
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 123
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3143
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 222
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 314
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 146
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4698
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.429388221841052e-4
allele num: 6996
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.51e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.51e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.67e-2

DP
type: SiteQuality
SIO_000300: 2.01232e5

VQSLOD
type: SiteQuality
SIO_000300: -2.278e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.04e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.399e0

QD
type: SiteQuality
SIO_000300: 1.047e1

GenotypeQuality
all individuals: 10878
bin: 2.25e1
variant carriers: 3

GenotypeQuality
all individuals: 923
bin: 2.75e1
variant carriers: 3

GenotypeQuality
all individuals: 714
bin: 3.75e1
variant carriers: 2

GenotypeQuality
all individuals: 130
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 7.75e1
variant carriers: 3

GenotypeQuality
all individuals: 38
bin: 9.25e1
variant carriers: 5

GenotypeQuality
all individuals: 36
bin: 5.75e1
variant carriers: 3

GenotypeQuality
all individuals: 76
bin: 8.25e1
variant carriers: 3

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.489868891537545e-4
allele num: 6712
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 174
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 392
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 112
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6338
num of homozygotes: 0

African
type: Population
allele count: 50
allele frequency: 3.267973856209151e-2
allele num: 1530
num of homozygotes: 2

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.35e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.510000000000001e-2

QD
type: SiteQuality
SIO_000300: 1.89e1

FS
type: SiteQuality
SIO_000300: 3.078e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

DP
type: SiteQuality
SIO_000300: 3.03292e5

MQRankSum
type: SiteQuality
SIO_000300: 1.1e-1

GenotypeQuality
all individuals: 14351
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1169
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3117
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2500
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2072
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2360
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9308
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1621
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15488
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.550724188195888e-5
allele num: 64486
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11254
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10148
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.27e1

MQRankSum
type: SiteQuality
SIO_000300: -2.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.08e0

DP
type: SiteQuality
SIO_000300: 1.70442e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.97e-1

GenotypeQuality
all individuals: 2068
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1325
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1139
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3821
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3126
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16745
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3547
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9323
bin: 9.75e1
variant carriers: 1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10166
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8454
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64572
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11264
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.444129398118315e-5
allele num: 15518
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.444e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.04e0

QD
type: SiteQuality
SIO_000300: 1.167e1

MQRankSum
type: SiteQuality
SIO_000300: 5.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e0

DP
type: SiteQuality
SIO_000300: 1.716933e6

GenotypeQuality
all individuals: 5802
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2990
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9324
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 946
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2432
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2719
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2632
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11264
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10160
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15528
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.367424242424242e-4
allele num: 8448
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64566
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.723688e6

QD
type: SiteQuality
SIO_000300: 1.187e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.512e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.5e-3

FS
type: SiteQuality
SIO_000300: 3.3e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.466e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e0

MQRankSum
type: SiteQuality
SIO_000300: 7.1e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.06e-1

GenotypeQuality
all individuals: 1604
bin: 7.25e1
variant carriers: 216

GenotypeQuality
all individuals: 1776
bin: 8.25e1
variant carriers: 308

GenotypeQuality
all individuals: 1216
bin: 9.25e1
variant carriers: 290

GenotypeQuality
all individuals: 103
bin: 7.5e0
variant carriers: 20

GenotypeQuality
all individuals: 182
bin: 1.75e1
variant carriers: 46

GenotypeQuality
all individuals: 27142
bin: 9.75e1
variant carriers: 22247

GenotypeQuality
all individuals: 2389
bin: 7.75e1
variant carriers: 403

GenotypeQuality
all individuals: 1183
bin: 4.25e1
variant carriers: 102

European (Non-Finnish)
type: Population
allele count: 14063
allele frequency: 2.170484010371651e-1
allele num: 64792
num of homozygotes: 1459

South Asian
type: Population
allele count: 2679
allele frequency: 1.714889258737678e-1
allele num: 15622
num of homozygotes: 261

African
type: Population
allele count: 6493
allele frequency: 6.324761348139489e-1
allele num: 10266
num of homozygotes: 2063

European (Finnish)
type: Population
allele count: 943
allele frequency: 1.44145521247325e-1
allele num: 6542
num of homozygotes: 74

East Asian
type: Population
allele count: 2493
allele frequency: 2.941940051923531e-1
allele num: 8474
num of homozygotes: 353

Latino
type: Population
allele count: 3106
allele frequency: 2.759417199715707e-1
allele num: 11256
num of homozygotes: 438

Other
type: Population
allele count: 220
allele frequency: 2.477477477477477e-1
allele num: 888
num of homozygotes: 30

ClippingRankSum
type: SiteQuality
SIO_000300: -2.41e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.29e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.866e0

DP
type: SiteQuality
SIO_000300: 1.884838e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.27e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.99e-2

QD
type: SiteQuality
SIO_000300: 1.796e1