3-148727196-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148727196
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148727196
    reference: chr 3
allele count: 1
allele frequency: 8.244430886935875e-6
allele num: 121294
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000340736
  ensembl transcript: ENST00000345003
  gene symbol: GYG1
  hgvsc: ENST00000345003.4:c.608+7G>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000479119
  gene symbol: GYG1
  hgvsc: ENST00000479119.1:n.224+7G>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000419499
  ensembl transcript: ENST00000483267
  gene symbol: GYG1
  hgvsc: ENST00000483267.1:c.469+12517G>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000469873
  gene symbol: GYG1
  hgvsc: ENST00000469873.1:n.522+7G>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000296048
  ensembl transcript: ENST00000296048
  gene symbol: GYG1
  hgvsc: ENST00000296048.6:c.608+7G>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420683
  ensembl transcript: ENST00000484197
  gene symbol: GYG1
  hgvsc: ENST00000484197.1:c.608+7G>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420247
  ensembl transcript: ENST00000461191
  gene symbol: GYG1
  hgvsc: ENST00000461191.1:c.596+7G>A
  variant of: http://identifiers.org/hgnc/4699
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2843
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7145
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4847
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
  all individuals: 2228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3260
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4833
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10441
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2945
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2645
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2601
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2765
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6965
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2475
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1155
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
hgvs: c.608+7G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum

3-148727197-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148727197
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148727197
    reference: chr 3
allele count: 1
allele frequency: 8.244838730954422e-6
allele num: 121288
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000296048
  ensembl transcript: ENST00000296048
  gene symbol: GYG1
  hgvsc: ENST00000296048.6:c.608+8C>G
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000469873
  gene symbol: GYG1
  hgvsc: ENST00000469873.1:n.522+8C>G
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420247
  ensembl transcript: ENST00000461191
  gene symbol: GYG1
  hgvsc: ENST00000461191.1:c.596+8C>G
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000479119
  gene symbol: GYG1
  hgvsc: ENST00000479119.1:n.224+8C>G
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000340736
  ensembl transcript: ENST00000345003
  gene symbol: GYG1
  hgvsc: ENST00000345003.4:c.608+8C>G
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000419499
  ensembl transcript: ENST00000483267
  gene symbol: GYG1
  hgvsc: ENST00000483267.1:c.469+12518C>G
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420683
  ensembl transcript: ENST00000484197
  gene symbol: GYG1
  hgvsc: ENST00000484197.1:c.608+8C>G
  variant of: http://identifiers.org/hgnc/4699
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3260
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4830
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2569
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4845
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2601
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 2228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2645
  bin: 6.75e1
  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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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10441
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2765
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2843
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1912
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 1983
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
hgvs: c.608+8C>G
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

3-148727202-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148727202
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148727202
    reference: chr 3
allele count: 1
allele frequency: 8.246334504312833e-6
allele num: 121266
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000296048
  ensembl transcript: ENST00000296048
  gene symbol: GYG1
  hgvsc: ENST00000296048.6:c.608+13G>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420683
  ensembl transcript: ENST00000484197
  gene symbol: GYG1
  hgvsc: ENST00000484197.1:c.608+13G>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420247
  ensembl transcript: ENST00000461191
  gene symbol: GYG1
  hgvsc: ENST00000461191.1:c.596+13G>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000419499
  ensembl transcript: ENST00000483267
  gene symbol: GYG1
  hgvsc: ENST00000483267.1:c.469+12523G>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000469873
  gene symbol: GYG1
  hgvsc: ENST00000469873.1:n.522+13G>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000479119
  gene symbol: GYG1
  hgvsc: ENST00000479119.1:n.224+13G>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000340736
  ensembl transcript: ENST00000345003
  gene symbol: GYG1
  hgvsc: ENST00000345003.4:c.608+13G>A
  variant of: http://identifiers.org/hgnc/4699
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3260
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2569
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2945
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1154
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

3-148727203-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148727203
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148727203
    reference: chr 3
allele count: 1
allele frequency: 8.246334504312833e-6
allele num: 121266
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000296048
  ensembl transcript: ENST00000296048
  gene symbol: GYG1
  hgvsc: ENST00000296048.6:c.608+14G>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000419499
  ensembl transcript: ENST00000483267
  gene symbol: GYG1
  hgvsc: ENST00000483267.1:c.469+12524G>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000469873
  gene symbol: GYG1
  hgvsc: ENST00000469873.1:n.522+14G>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420247
  ensembl transcript: ENST00000461191
  gene symbol: GYG1
  hgvsc: ENST00000461191.1:c.596+14G>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000479119
  gene symbol: GYG1
  hgvsc: ENST00000479119.1:n.224+14G>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000340736
  ensembl transcript: ENST00000345003
  gene symbol: GYG1
  hgvsc: ENST00000345003.4:c.608+14G>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420683
  ensembl transcript: ENST00000484197
  gene symbol: GYG1
  hgvsc: ENST00000484197.1:c.608+14G>A
  variant of: http://identifiers.org/hgnc/4699
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2642
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10508
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6857
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2449
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1978
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff

3-148727203-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148727203
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148727203
    reference: chr 3
allele count: 134
allele frequency: 1.10500882357792e-3
allele num: 121266
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000419499
  ensembl transcript: ENST00000483267
  gene symbol: GYG1
  hgvsc: ENST00000483267.1:c.469+12524G>C
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420247
  ensembl transcript: ENST00000461191
  gene symbol: GYG1
  hgvsc: ENST00000461191.1:c.596+14G>C
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000296048
  ensembl transcript: ENST00000296048
  gene symbol: GYG1
  hgvsc: ENST00000296048.6:c.608+14G>C
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000469873
  gene symbol: GYG1
  hgvsc: ENST00000469873.1:n.522+14G>C
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420683
  ensembl transcript: ENST00000484197
  gene symbol: GYG1
  hgvsc: ENST00000484197.1:c.608+14G>C
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000479119
  gene symbol: GYG1
  hgvsc: ENST00000479119.1:n.224+14G>C
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000340736
  ensembl transcript: ENST00000345003
  gene symbol: GYG1
  hgvsc: ENST00000345003.4:c.608+14G>C
  variant of: http://identifiers.org/hgnc/4699
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2349
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4813
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4785
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3879
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2945
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2564
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3247
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 8.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7066
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2226
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 10508
  bin: 9.75e1
  variant carriers: 94
genotype depth: GenotypeDepth
  all individuals: 2642
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2841
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1845
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum

3-148727208-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148727208
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148727208
    reference: chr 3
allele count: 1
allele frequency: 8.247558722618106e-6
allele num: 121248
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000479119
  gene symbol: GYG1
  hgvsc: ENST00000479119.1:n.224+19A>G
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420683
  ensembl transcript: ENST00000484197
  gene symbol: GYG1
  hgvsc: ENST00000484197.1:c.608+19A>G
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000340736
  ensembl transcript: ENST00000345003
  gene symbol: GYG1
  hgvsc: ENST00000345003.4:c.608+19A>G
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000419499
  ensembl transcript: ENST00000483267
  gene symbol: GYG1
  hgvsc: ENST00000483267.1:c.469+12529A>G
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000296048
  ensembl transcript: ENST00000296048
  gene symbol: GYG1
  hgvsc: ENST00000296048.6:c.608+19A>G
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000469873
  gene symbol: GYG1
  hgvsc: ENST00000469873.1:n.522+19A>G
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420247
  ensembl transcript: ENST00000461191
  gene symbol: GYG1
  hgvsc: ENST00000461191.1:c.596+19A>G
  variant of: http://identifiers.org/hgnc/4699
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2567
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2848
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2893
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4765
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4795
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2950
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2650
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7046
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3247
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3881
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2232
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2610
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10457
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2441
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1911
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1291
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD

3-148727211-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148727211
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148727211
    reference: chr 3
allele count: 6
allele frequency: 4.949433289888308e-5
allele num: 121226
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000296048
  ensembl transcript: ENST00000296048
  gene symbol: GYG1
  hgvsc: ENST00000296048.6:c.608+22A>G
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420247
  ensembl transcript: ENST00000461191
  gene symbol: GYG1
  hgvsc: ENST00000461191.1:c.596+22A>G
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000340736
  ensembl transcript: ENST00000345003
  gene symbol: GYG1
  hgvsc: ENST00000345003.4:c.608+22A>G
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420683
  ensembl transcript: ENST00000484197
  gene symbol: GYG1
  hgvsc: ENST00000484197.1:c.608+22A>G
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000479119
  gene symbol: GYG1
  hgvsc: ENST00000479119.1:n.224+22A>G
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000469873
  gene symbol: GYG1
  hgvsc: ENST00000469873.1:n.522+22A>G
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000419499
  ensembl transcript: ENST00000483267
  gene symbol: GYG1
  hgvsc: ENST00000483267.1:c.469+12532A>G
  variant of: http://identifiers.org/hgnc/4699
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2893
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4726
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2610
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2848
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4785
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7016
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2232
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3880
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3247
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10460
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2650
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2950
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42838
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6718
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1152
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

3-148727214-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148727214
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148727214
    reference: chr 3
allele count: 1
allele frequency: 8.25218682950982e-6
allele num: 121180
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420247
  ensembl transcript: ENST00000461191
  gene symbol: GYG1
  hgvsc: ENST00000461191.1:c.596+25G>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000469873
  gene symbol: GYG1
  hgvsc: ENST00000469873.1:n.522+25G>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000296048
  ensembl transcript: ENST00000296048
  gene symbol: GYG1
  hgvsc: ENST00000296048.6:c.608+25G>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000419499
  ensembl transcript: ENST00000483267
  gene symbol: GYG1
  hgvsc: ENST00000483267.1:c.469+12535G>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000340736
  ensembl transcript: ENST00000345003
  gene symbol: GYG1
  hgvsc: ENST00000345003.4:c.608+25G>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420683
  ensembl transcript: ENST00000484197
  gene symbol: GYG1
  hgvsc: ENST00000484197.1:c.608+25G>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000479119
  gene symbol: GYG1
  hgvsc: ENST00000479119.1:n.224+25G>A
  variant of: http://identifiers.org/hgnc/4699
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6981
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2611
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2848
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10455
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4750
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2650
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4726
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2952
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3874
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2893
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2349
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3246
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1907
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6609
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2399
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

3-148727215-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148727215
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148727215
    reference: chr 3
allele count: 2
allele frequency: 1.650355651642929e-5
allele num: 121186
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000479119
  gene symbol: GYG1
  hgvsc: ENST00000479119.1:n.224+26T>C
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420247
  ensembl transcript: ENST00000461191
  gene symbol: GYG1
  hgvsc: ENST00000461191.1:c.596+26T>C
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000296048
  ensembl transcript: ENST00000296048
  gene symbol: GYG1
  hgvsc: ENST00000296048.6:c.608+26T>C
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000419499
  ensembl transcript: ENST00000483267
  gene symbol: GYG1
  hgvsc: ENST00000483267.1:c.469+12536T>C
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000340736
  ensembl transcript: ENST00000345003
  gene symbol: GYG1
  hgvsc: ENST00000345003.4:c.608+26T>C
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000469873
  gene symbol: GYG1
  hgvsc: ENST00000469873.1:n.522+26T>C
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420683
  ensembl transcript: ENST00000484197
  gene symbol: GYG1
  hgvsc: ENST00000484197.1:c.608+26T>C
  variant of: http://identifiers.org/hgnc/4699
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3870
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3246
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2893
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4731
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2952
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4745
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2349
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6985
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2611
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2650
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10454
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2849
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42838
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1281
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6642
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1907
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

3-148727223-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148727223
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148727223
    reference: chr 3
allele count: 2
allele frequency: 1.650491846570278e-5
allele num: 121176
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420247
  ensembl transcript: ENST00000461191
  gene symbol: GYG1
  hgvsc: ENST00000461191.1:c.596+34G>T
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420683
  ensembl transcript: ENST00000484197
  gene symbol: GYG1
  hgvsc: ENST00000484197.1:c.608+34G>T
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000340736
  ensembl transcript: ENST00000345003
  gene symbol: GYG1
  hgvsc: ENST00000345003.4:c.608+34G>T
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000479119
  gene symbol: GYG1
  hgvsc: ENST00000479119.1:n.224+34G>T
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000419499
  ensembl transcript: ENST00000483267
  gene symbol: GYG1
  hgvsc: ENST00000483267.1:c.469+12544G>T
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000469873
  gene symbol: GYG1
  hgvsc: ENST00000469873.1:n.522+34G>T
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000296048
  ensembl transcript: ENST00000296048
  gene symbol: GYG1
  hgvsc: ENST00000296048.6:c.608+34G>T
  variant of: http://identifiers.org/hgnc/4699
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2893
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2651
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4735
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2349
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2952
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6951
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3246
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4678
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10452
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3864
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1847
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

3-148727228-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148727228
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148727228
    reference: chr 3
allele count: 1
allele frequency: 8.253140319891718e-6
allele num: 121166
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000419499
  ensembl transcript: ENST00000483267
  gene symbol: GYG1
  hgvsc: ENST00000483267.1:c.469+12549G>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000340736
  ensembl transcript: ENST00000345003
  gene symbol: GYG1
  hgvsc: ENST00000345003.4:c.608+39G>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000296048
  ensembl transcript: ENST00000296048
  gene symbol: GYG1
  hgvsc: ENST00000296048.6:c.608+39G>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000479119
  gene symbol: GYG1
  hgvsc: ENST00000479119.1:n.224+39G>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420247
  ensembl transcript: ENST00000461191
  gene symbol: GYG1
  hgvsc: ENST00000461191.1:c.596+39G>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000469873
  gene symbol: GYG1
  hgvsc: ENST00000469873.1:n.522+39G>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420683
  ensembl transcript: ENST00000484197
  gene symbol: GYG1
  hgvsc: ENST00000484197.1:c.608+39G>A
  variant of: http://identifiers.org/hgnc/4699
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2611
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2851
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2349
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3863
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2893
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4663
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6952
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4714
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3247
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2651
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10451
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42839
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1273
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1965
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

3-148727235-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148727235
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148727235
    reference: chr 3
allele count: 1
allele frequency: 8.25722920416825e-6
allele num: 121106
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420247
  ensembl transcript: ENST00000461191
  gene symbol: GYG1
  hgvsc: ENST00000461191.1:c.596+46G>T
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000419499
  ensembl transcript: ENST00000483267
  gene symbol: GYG1
  hgvsc: ENST00000483267.1:c.469+12556G>T
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420683
  ensembl transcript: ENST00000484197
  gene symbol: GYG1
  hgvsc: ENST00000484197.1:c.608+46G>T
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000479119
  gene symbol: GYG1
  hgvsc: ENST00000479119.1:n.224+46G>T
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000296048
  ensembl transcript: ENST00000296048
  gene symbol: GYG1
  hgvsc: ENST00000296048.6:c.608+46G>T
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000469873
  gene symbol: GYG1
  hgvsc: ENST00000469873.1:n.522+46G>T
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000340736
  ensembl transcript: ENST00000345003
  gene symbol: GYG1
  hgvsc: ENST00000345003.4:c.608+46G>T
  variant of: http://identifiers.org/hgnc/4699
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4587
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3247
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3852
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2851
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2349
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4688
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6991
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2893
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10451
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2372
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1847
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1152
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

3-148727238-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148727238
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148727238
    reference: chr 3
allele count: 1
allele frequency: 8.258183860205463e-6
allele num: 121092
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420247
  ensembl transcript: ENST00000461191
  gene symbol: GYG1
  hgvsc: ENST00000461191.1:c.596+49T>C
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420683
  ensembl transcript: ENST00000484197
  gene symbol: GYG1
  hgvsc: ENST00000484197.1:c.608+49T>C
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000469873
  gene symbol: GYG1
  hgvsc: ENST00000469873.1:n.522+49T>C
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000479119
  gene symbol: GYG1
  hgvsc: ENST00000479119.1:n.224+49T>C
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000296048
  ensembl transcript: ENST00000296048
  gene symbol: GYG1
  hgvsc: ENST00000296048.6:c.608+49T>C
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000419499
  ensembl transcript: ENST00000483267
  gene symbol: GYG1
  hgvsc: ENST00000483267.1:c.469+12559T>C
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000340736
  ensembl transcript: ENST00000345003
  gene symbol: GYG1
  hgvsc: ENST00000345003.4:c.608+49T>C
  variant of: http://identifiers.org/hgnc/4699
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3247
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6989
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2894
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2350
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4594
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2611
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2851
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10452
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2651
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2232
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4681
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3852
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1269
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1904
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1963
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6322
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42841
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

3-148741793-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148741793
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148741793
    reference: chr 3
allele count: 1
allele frequency: 8.676036786395974e-6
allele num: 115260
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000469873
  gene symbol: GYG1
  hgvsc: ENST00000469873.1:n.523-47C>G
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420683
  ensembl transcript: ENST00000484197
  gene symbol: GYG1
  hgvsc: ENST00000484197.1:c.609-2754C>G
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000340736
  ensembl transcript: ENST00000345003
  gene symbol: GYG1
  hgvsc: ENST00000345003.4:c.609-47C>G
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000296048
  ensembl transcript: ENST00000296048
  gene symbol: GYG1
  hgvsc: ENST00000296048.6:c.609-47C>G
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000419499
  ensembl transcript: ENST00000483267
  gene symbol: GYG1
  hgvsc: ENST00000483267.1:c.470-47C>G
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420247
  ensembl transcript: ENST00000461191
  gene symbol: GYG1
  hgvsc: ENST00000461191.1:c.597-47C>G
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000479119
  gene symbol: GYG1
  hgvsc: ENST00000479119.1:n.225-2754C>G
  variant of: http://identifiers.org/hgnc/4699
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8987
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3823
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14368
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11247
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8325
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2560
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2650
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 912
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4907
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3240
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1787
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2632
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4395
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

3-148741807-CACTA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148741807
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148741803
    reference: chr 3
allele count: 2
allele frequency: 1.719246969827216e-5
allele num: 116330
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000419499
  ensembl transcript: ENST00000483267
  gene symbol: GYG1
  hgvsc: ENST00000483267.1:c.470-29_470-26delAACT
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420247
  ensembl transcript: ENST00000461191
  gene symbol: GYG1
  hgvsc: ENST00000461191.1:c.597-29_597-26delAACT
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000340736
  ensembl transcript: ENST00000345003
  gene symbol: GYG1
  hgvsc: ENST00000345003.4:c.609-29_609-26delAACT
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420683
  ensembl transcript: ENST00000484197
  gene symbol: GYG1
  hgvsc: ENST00000484197.1:c.609-2736_609-2733delAACT
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000469873
  gene symbol: GYG1
  hgvsc: ENST00000469873.1:n.523-29_523-26delAACT
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000296048
  ensembl transcript: ENST00000296048
  gene symbol: GYG1
  hgvsc: ENST00000296048.6:c.609-29_609-26delAACT
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000479119
  gene symbol: GYG1
  hgvsc: ENST00000479119.1:n.225-2736_225-2733delAACT
  variant of: http://identifiers.org/hgnc/4699
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2354
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5787
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4324
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9836
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24525
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 950
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2036
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1048
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2326
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2432
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2697
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25573
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: CACTA
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/3-148741820-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148741820
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148741820
    reference: chr 3
allele count: 1
allele frequency: 8.450513791238508e-6
allele num: 118336
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420683
  ensembl transcript: ENST00000484197
  gene symbol: GYG1
  hgvsc: ENST00000484197.1:c.609-2727A>C
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420247
  ensembl transcript: ENST00000461191
  gene symbol: GYG1
  hgvsc: ENST00000461191.1:c.597-20A>C
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000296048
  ensembl transcript: ENST00000296048
  gene symbol: GYG1
  hgvsc: ENST00000296048.6:c.609-20A>C
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000479119
  gene symbol: GYG1
  hgvsc: ENST00000479119.1:n.225-2727A>C
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000419499
  ensembl transcript: ENST00000483267
  gene symbol: GYG1
  hgvsc: ENST00000483267.1:c.470-20A>C
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000340736
  ensembl transcript: ENST00000345003
  gene symbol: GYG1
  hgvsc: ENST00000345003.4:c.609-20A>C
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000469873
  gene symbol: GYG1
  hgvsc: ENST00000469873.1:n.523-20A>C
  variant of: http://identifiers.org/hgnc/4699
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4709
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29116
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1918
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11232
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9924
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1830
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31456
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5915
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

3-148741821-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148741821
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148741821
    reference: chr 3
allele count: 3
allele frequency: 2.532842524737429e-5
allele num: 118444
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000340736
  ensembl transcript: ENST00000345003
  gene symbol: GYG1
  hgvsc: ENST00000345003.4:c.609-19A>G
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000469873
  gene symbol: GYG1
  hgvsc: ENST00000469873.1:n.523-19A>G
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000419499
  ensembl transcript: ENST00000483267
  gene symbol: GYG1
  hgvsc: ENST00000483267.1:c.470-19A>G
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000296048
  ensembl transcript: ENST00000296048
  gene symbol: GYG1
  hgvsc: ENST00000296048.6:c.609-19A>G
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420683
  ensembl transcript: ENST00000484197
  gene symbol: GYG1
  hgvsc: ENST00000484197.1:c.609-2726A>G
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000479119
  gene symbol: GYG1
  hgvsc: ENST00000479119.1:n.225-2726A>G
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420247
  ensembl transcript: ENST00000461191
  gene symbol: GYG1
  hgvsc: ENST00000461191.1:c.597-19A>G
  variant of: http://identifiers.org/hgnc/4699
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11392
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29119
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4731
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 994
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1548
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1834
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP

3-148741826-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148741826
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148741826
    reference: chr 3
allele count: 5
allele frequency: 4.195475599113915e-5
allele num: 119176
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420247
  ensembl transcript: ENST00000461191
  gene symbol: GYG1
  hgvsc: ENST00000461191.1:c.597-14C>T
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000469873
  gene symbol: GYG1
  hgvsc: ENST00000469873.1:n.523-14C>T
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000296048
  ensembl transcript: ENST00000296048
  gene symbol: GYG1
  hgvsc: ENST00000296048.6:c.609-14C>T
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000340736
  ensembl transcript: ENST00000345003
  gene symbol: GYG1
  hgvsc: ENST00000345003.4:c.609-14C>T
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000419499
  ensembl transcript: ENST00000483267
  gene symbol: GYG1
  hgvsc: ENST00000483267.1:c.470-14C>T
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420683
  ensembl transcript: ENST00000484197
  gene symbol: GYG1
  hgvsc: ENST00000484197.1:c.609-2721C>T
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000479119
  gene symbol: GYG1
  hgvsc: ENST00000479119.1:n.225-2721C>T
  variant of: http://identifiers.org/hgnc/4699
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1942
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11964
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4932
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6060
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1865
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

3-148741827-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148741827
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148741827
    reference: chr 3
allele count: 12
allele frequency: 1.004453075300499e-4
allele num: 119468
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420247
  ensembl transcript: ENST00000461191
  gene symbol: GYG1
  hgvsc: ENST00000461191.1:c.597-13G>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420683
  ensembl transcript: ENST00000484197
  gene symbol: GYG1
  hgvsc: ENST00000484197.1:c.609-2720G>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000296048
  ensembl transcript: ENST00000296048
  gene symbol: GYG1
  hgvsc: ENST00000296048.6:c.609-13G>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000419499
  ensembl transcript: ENST00000483267
  gene symbol: GYG1
  hgvsc: ENST00000483267.1:c.470-13G>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000469873
  gene symbol: GYG1
  hgvsc: ENST00000469873.1:n.523-13G>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000479119
  gene symbol: GYG1
  hgvsc: ENST00000479119.1:n.225-2720G>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000340736
  ensembl transcript: ENST00000345003
  gene symbol: GYG1
  hgvsc: ENST00000345003.4:c.609-13G>A
  variant of: http://identifiers.org/hgnc/4699
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29972
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12103
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4982
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2293
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6159
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1043
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1887
  bin: 8.25e1
  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: G
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

3-148741829-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148741829
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148741829
    reference: chr 3
allele count: 2
allele frequency: 1.669672076404194e-5
allele num: 119784
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000340736
  ensembl transcript: ENST00000345003
  gene symbol: GYG1
  hgvsc: ENST00000345003.4:c.609-11T>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000469873
  gene symbol: GYG1
  hgvsc: ENST00000469873.1:n.523-11T>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000479119
  gene symbol: GYG1
  hgvsc: ENST00000479119.1:n.225-2718T>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420247
  ensembl transcript: ENST00000461191
  gene symbol: GYG1
  hgvsc: ENST00000461191.1:c.597-11T>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000296048
  ensembl transcript: ENST00000296048
  gene symbol: GYG1
  hgvsc: ENST00000296048.6:c.609-11T>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000419499
  ensembl transcript: ENST00000483267
  gene symbol: GYG1
  hgvsc: ENST00000483267.1:c.470-11T>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420683
  ensembl transcript: ENST00000484197
  gene symbol: GYG1
  hgvsc: ENST00000484197.1:c.609-2718T>A
  variant of: http://identifiers.org/hgnc/4699
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30294
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12212
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5001
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9932
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1002
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1902
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

3-148741840-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148741840
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148741840
    reference: chr 3
allele count: 84
allele frequency: 6.963672840017907e-4
allele num: 120626
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420247
  ensembl transcript: ENST00000461191
  gene symbol: GYG1
  hgvsc: ENST00000461191.1:c.597G>A
  hgvsp: ENST00000461191.1:c.597G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000469873
  gene symbol: GYG1
  hgvsc: ENST00000469873.1:n.523G>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420683
  ensembl transcript: ENST00000484197
  gene symbol: GYG1
  hgvsc: ENST00000484197.1:c.609-2707G>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000419499
  ensembl transcript: ENST00000483267
  gene symbol: GYG1
  hgvsc: ENST00000483267.1:c.470G>A
  hgvsp: ENSP00000419499.1:p.Gly157Asp
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000479119
  gene symbol: GYG1
  hgvsc: ENST00000479119.1:n.225-2707G>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000296048
  ensembl transcript: ENST00000296048
  gene symbol: GYG1
  hgvsc: ENST00000296048.6:c.609G>A
  hgvsp: ENST00000296048.6:c.609G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000340736
  ensembl transcript: ENST00000345003
  gene symbol: GYG1
  hgvsc: ENST00000345003.4:c.609G>A
  hgvsp: ENST00000345003.4:c.609G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4699
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 30377
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5235
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12782
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 5.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 9.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly157Asp
num of homozygotes: 1
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-148741841-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148741841
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148741841
    reference: chr 3
allele count: 1
allele frequency: 8.286926544683108e-6
allele num: 120672
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000296048
  ensembl transcript: ENST00000296048
  gene symbol: GYG1
  hgvsc: ENST00000296048.6:c.610T>C
  hgvsp: ENSP00000296048.6:p.Phe204Leu
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000340736
  ensembl transcript: ENST00000345003
  gene symbol: GYG1
  hgvsc: ENST00000345003.4:c.610T>C
  hgvsp: ENSP00000340736.4:p.Phe204Leu
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000419499
  ensembl transcript: ENST00000483267
  gene symbol: GYG1
  hgvsc: ENST00000483267.1:c.471T>C
  hgvsp: ENST00000483267.1:c.471T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000469873
  gene symbol: GYG1
  hgvsc: ENST00000469873.1:n.524T>C
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420247
  ensembl transcript: ENST00000461191
  gene symbol: GYG1
  hgvsc: ENST00000461191.1:c.598T>C
  hgvsp: ENSP00000420247.1:p.Phe200Leu
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420683
  ensembl transcript: ENST00000484197
  gene symbol: GYG1
  hgvsc: ENST00000484197.1:c.609-2706T>C
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000479119
  gene symbol: GYG1
  hgvsc: ENST00000479119.1:n.225-2706T>C
  variant of: http://identifiers.org/hgnc/4699
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12827
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30373
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5259
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1945
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2836
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Phe204Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

3-148741844-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148741844
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148741844
    reference: chr 3
allele count: 1
allele frequency: 8.281847845891375e-6
allele num: 120746
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000419499
  ensembl transcript: ENST00000483267
  gene symbol: GYG1
  hgvsc: ENST00000483267.1:c.474G>C
  hgvsp: ENSP00000419499.1:p.Leu158Phe
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000296048
  ensembl transcript: ENST00000296048
  gene symbol: GYG1
  hgvsc: ENST00000296048.6:c.613G>C
  hgvsp: ENSP00000296048.6:p.Gly205Arg
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000340736
  ensembl transcript: ENST00000345003
  gene symbol: GYG1
  hgvsc: ENST00000345003.4:c.613G>C
  hgvsp: ENSP00000340736.4:p.Gly205Arg
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420683
  ensembl transcript: ENST00000484197
  gene symbol: GYG1
  hgvsc: ENST00000484197.1:c.609-2703G>C
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000479119
  gene symbol: GYG1
  hgvsc: ENST00000479119.1:n.225-2703G>C
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420247
  ensembl transcript: ENST00000461191
  gene symbol: GYG1
  hgvsc: ENST00000461191.1:c.601G>C
  hgvsp: ENSP00000420247.1:p.Gly201Arg
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000469873
  gene symbol: GYG1
  hgvsc: ENST00000469873.1:n.527G>C
  variant of: http://identifiers.org/hgnc/4699
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12893
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30383
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5283
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9943
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1943
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly205Arg
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

3-148741845-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148741845
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148741845
    reference: chr 3
allele count: 1
allele frequency: 8.279105194310599e-6
allele num: 120786
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420683
  ensembl transcript: ENST00000484197
  gene symbol: GYG1
  hgvsc: ENST00000484197.1:c.609-2702G>T
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000296048
  ensembl transcript: ENST00000296048
  gene symbol: GYG1
  hgvsc: ENST00000296048.6:c.614G>T
  hgvsp: ENSP00000296048.6:p.Gly205Val
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420247
  ensembl transcript: ENST00000461191
  gene symbol: GYG1
  hgvsc: ENST00000461191.1:c.602G>T
  hgvsp: ENSP00000420247.1:p.Gly201Val
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000419499
  ensembl transcript: ENST00000483267
  gene symbol: GYG1
  hgvsc: ENST00000483267.1:c.475G>T
  hgvsp: ENSP00000419499.1:p.Val159Leu
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000479119
  gene symbol: GYG1
  hgvsc: ENST00000479119.1:n.225-2702G>T
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000340736
  ensembl transcript: ENST00000345003
  gene symbol: GYG1
  hgvsc: ENST00000345003.4:c.614G>T
  hgvsp: ENSP00000340736.4:p.Gly205Val
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000469873
  gene symbol: GYG1
  hgvsc: ENST00000469873.1:n.528G>T
  variant of: http://identifiers.org/hgnc/4699
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2006
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12925
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5298
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30375
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1014
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1945
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly205Val
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: VQSLOD

3-148741851-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148741851
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148741851
    reference: chr 3
allele count: 9
allele frequency: 7.439615123910923e-5
allele num: 120974
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000469873
  gene symbol: GYG1
  hgvsc: ENST00000469873.1:n.534G>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000479119
  gene symbol: GYG1
  hgvsc: ENST00000479119.1:n.225-2696G>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000419499
  ensembl transcript: ENST00000483267
  gene symbol: GYG1
  hgvsc: ENST00000483267.1:c.481G>A
  hgvsp: ENSP00000419499.1:p.Val161Met
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420247
  ensembl transcript: ENST00000461191
  gene symbol: GYG1
  hgvsc: ENST00000461191.1:c.608G>A
  hgvsp: ENSP00000420247.1:p.Ser203Asn
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420683
  ensembl transcript: ENST00000484197
  gene symbol: GYG1
  hgvsc: ENST00000484197.1:c.609-2696G>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000296048
  ensembl transcript: ENST00000296048
  gene symbol: GYG1
  hgvsc: ENST00000296048.6:c.620G>A
  hgvsp: ENSP00000296048.6:p.Ser207Asn
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000340736
  ensembl transcript: ENST00000345003
  gene symbol: GYG1
  hgvsc: ENST00000345003.4:c.620G>A
  hgvsp: ENSP00000340736.4:p.Ser207Asn
  variant of: http://identifiers.org/hgnc/4699
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5342
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30310
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13118
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2010
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1014
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9955
  bin: 9.75e1
  variant carriers: 9
hgvs: p.Ser207Asn
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

3-148741857-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148741857
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148741857
    reference: chr 3
allele count: 1
allele frequency: 8.25559316436886e-6
allele num: 121130
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000419499
  ensembl transcript: ENST00000483267
  gene symbol: GYG1
  hgvsc: ENST00000483267.1:c.487A>T
  hgvsp: ENSP00000419499.1:p.Lys163Ter
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000296048
  ensembl transcript: ENST00000296048
  gene symbol: GYG1
  hgvsc: ENST00000296048.6:c.626A>T
  hgvsp: ENSP00000296048.6:p.Lys209Ile
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000340736
  ensembl transcript: ENST00000345003
  gene symbol: GYG1
  hgvsc: ENST00000345003.4:c.626A>T
  hgvsp: ENSP00000340736.4:p.Lys209Ile
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000469873
  gene symbol: GYG1
  hgvsc: ENST00000469873.1:n.540A>T
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420247
  ensembl transcript: ENST00000461191
  gene symbol: GYG1
  hgvsc: ENST00000461191.1:c.614A>T
  hgvsp: ENSP00000420247.1:p.Lys205Ile
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420683
  ensembl transcript: ENST00000484197
  gene symbol: GYG1
  hgvsc: ENST00000484197.1:c.609-2690A>T
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000479119
  gene symbol: GYG1
  hgvsc: ENST00000479119.1:n.225-2690A>T
  variant of: http://identifiers.org/hgnc/4699
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30326
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13216
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5391
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34772
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Lys163Ter
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

3-148741864-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148741864
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148741864
    reference: chr 3
allele count: 2
allele frequency: 1.650192247396822e-5
allele num: 121198
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420247
  ensembl transcript: ENST00000461191
  gene symbol: GYG1
  hgvsc: ENST00000461191.1:c.621G>A
  hgvsp: ENST00000461191.1:c.621G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000419499
  ensembl transcript: ENST00000483267
  gene symbol: GYG1
  hgvsc: ENST00000483267.1:c.494G>A
  hgvsp: ENSP00000419499.1:p.Cys165Tyr
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000469873
  gene symbol: GYG1
  hgvsc: ENST00000469873.1:n.547G>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000296048
  ensembl transcript: ENST00000296048
  gene symbol: GYG1
  hgvsc: ENST00000296048.6:c.633G>A
  hgvsp: ENST00000296048.6:c.633G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000479119
  gene symbol: GYG1
  hgvsc: ENST00000479119.1:n.225-2683G>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000340736
  ensembl transcript: ENST00000345003
  gene symbol: GYG1
  hgvsc: ENST00000345003.4:c.633G>A
  hgvsp: ENST00000345003.4:c.633G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420683
  ensembl transcript: ENST00000484197
  gene symbol: GYG1
  hgvsc: ENST00000484197.1:c.609-2683G>A
  variant of: http://identifiers.org/hgnc/4699
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30304
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5420
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13287
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2019
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9952
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6548
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1018
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34780
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Cys165Tyr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ

3-148741877-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148741877
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148741877
    reference: chr 3
allele count: 2
allele frequency: 1.64923970049807e-5
allele num: 121268
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000419499
  ensembl transcript: ENST00000483267
  gene symbol: GYG1
  hgvsc: ENST00000483267.1:c.507C>T
  hgvsp: ENST00000483267.1:c.507C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000296048
  ensembl transcript: ENST00000296048
  gene symbol: GYG1
  hgvsc: ENST00000296048.6:c.646C>T
  hgvsp: ENSP00000296048.6:p.Arg216Ter
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000479119
  gene symbol: GYG1
  hgvsc: ENST00000479119.1:n.225-2670C>T
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420683
  ensembl transcript: ENST00000484197
  gene symbol: GYG1
  hgvsc: ENST00000484197.1:c.609-2670C>T
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420247
  ensembl transcript: ENST00000461191
  gene symbol: GYG1
  hgvsc: ENST00000461191.1:c.634C>T
  hgvsp: ENSP00000420247.1:p.Arg212Ter
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000469873
  gene symbol: GYG1
  hgvsc: ENST00000469873.1:n.560C>T
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000340736
  ensembl transcript: ENST00000345003
  gene symbol: GYG1
  hgvsc: ENST00000345003.4:c.646C>T
  hgvsp: ENSP00000340736.4:p.Arg216Ter
  variant of: http://identifiers.org/hgnc/4699
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13403
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30203
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5454
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2421
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg216Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

3-148741881-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148741881
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148741881
    reference: chr 3
allele count: 1
allele frequency: 8.244159013339049e-6
allele num: 121298
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000419499
  ensembl transcript: ENST00000483267
  gene symbol: GYG1
  hgvsc: ENST00000483267.1:c.511T>C
  hgvsp: ENSP00000419499.1:p.Ser171Pro
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420247
  ensembl transcript: ENST00000461191
  gene symbol: GYG1
  hgvsc: ENST00000461191.1:c.638T>C
  hgvsp: ENSP00000420247.1:p.Val213Ala
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000340736
  ensembl transcript: ENST00000345003
  gene symbol: GYG1
  hgvsc: ENST00000345003.4:c.650T>C
  hgvsp: ENSP00000340736.4:p.Val217Ala
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420683
  ensembl transcript: ENST00000484197
  gene symbol: GYG1
  hgvsc: ENST00000484197.1:c.609-2666T>C
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000479119
  gene symbol: GYG1
  hgvsc: ENST00000479119.1:n.225-2666T>C
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000469873
  gene symbol: GYG1
  hgvsc: ENST00000469873.1:n.564T>C
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000296048
  ensembl transcript: ENST00000296048
  gene symbol: GYG1
  hgvsc: ENST00000296048.6:c.650T>C
  hgvsp: ENSP00000296048.6:p.Val217Ala
  variant of: http://identifiers.org/hgnc/4699
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13441
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2025
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30181
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5457
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34843
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1962
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9955
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6585
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val217Ala
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/3-148741887-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148741887
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148741887
    reference: chr 3
allele count: 1
allele frequency: 8.24334350012365e-6
allele num: 121310
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000296048
  ensembl transcript: ENST00000296048
  gene symbol: GYG1
  hgvsc: ENST00000296048.6:c.656C>A
  hgvsp: ENSP00000296048.6:p.Pro219Gln
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000469873
  gene symbol: GYG1
  hgvsc: ENST00000469873.1:n.570C>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000340736
  ensembl transcript: ENST00000345003
  gene symbol: GYG1
  hgvsc: ENST00000345003.4:c.656C>A
  hgvsp: ENSP00000340736.4:p.Pro219Gln
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000479119
  gene symbol: GYG1
  hgvsc: ENST00000479119.1:n.225-2660C>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000419499
  ensembl transcript: ENST00000483267
  gene symbol: GYG1
  hgvsc: ENST00000483267.1:c.517C>A
  hgvsp: ENSP00000419499.1:p.His173Asn
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420247
  ensembl transcript: ENST00000461191
  gene symbol: GYG1
  hgvsc: ENST00000461191.1:c.644C>A
  hgvsp: ENSP00000420247.1:p.Pro215Gln
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420683
  ensembl transcript: ENST00000484197
  gene symbol: GYG1
  hgvsc: ENST00000484197.1:c.609-2660C>A
  variant of: http://identifiers.org/hgnc/4699
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13454
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5465
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30166
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1964
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2882
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro219Gln
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

3-148741890-GGA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148741890
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148741888
    reference: chr 3
allele count: 1
allele frequency: 8.24279991427488e-6
allele num: 121318
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: stop_gained
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420247
  ensembl transcript: ENST00000461191
  gene symbol: GYG1
  hgvsc: ENST00000461191.1:c.648_649delGA
  hgvsp: ENSP00000420247.1:p.Trp216Ter
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000419499
  ensembl transcript: ENST00000483267
  gene symbol: GYG1
  hgvsc: ENST00000483267.1:c.521_522delGA
  hgvsp: ENSP00000419499.1:p.Gly174AspfsTer?
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000479119
  gene symbol: GYG1
  hgvsc: ENST00000479119.1:n.225-2656_225-2655delGA
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: stop_gained
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000296048
  ensembl transcript: ENST00000296048
  gene symbol: GYG1
  hgvsc: ENST00000296048.6:c.660_661delGA
  hgvsp: ENSP00000296048.6:p.Trp220Ter
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000469873
  gene symbol: GYG1
  hgvsc: ENST00000469873.1:n.574_575delGA
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: stop_gained
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000340736
  ensembl transcript: ENST00000345003
  gene symbol: GYG1
  hgvsc: ENST00000345003.4:c.660_661delGA
  hgvsp: ENSP00000340736.4:p.Trp220Ter
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420683
  ensembl transcript: ENST00000484197
  gene symbol: GYG1
  hgvsc: ENST00000484197.1:c.609-2656_609-2655delGA
  variant of: http://identifiers.org/hgnc/4699
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5465
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2028
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13463
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30167
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9957
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1964
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34879
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2879
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Trp220Ter
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: GGA
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

3-148741901-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148741901
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148741901
    reference: chr 3
allele count: 2
allele frequency: 1.64836976230508e-5
allele num: 121332
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000469873
  gene symbol: GYG1
  hgvsc: ENST00000469873.1:n.584T>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000479119
  gene symbol: GYG1
  hgvsc: ENST00000479119.1:n.225-2646T>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000296048
  ensembl transcript: ENST00000296048
  gene symbol: GYG1
  hgvsc: ENST00000296048.6:c.670T>A
  hgvsp: ENSP00000296048.6:p.Tyr224Asn
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000340736
  ensembl transcript: ENST00000345003
  gene symbol: GYG1
  hgvsc: ENST00000345003.4:c.670T>A
  hgvsp: ENSP00000340736.4:p.Tyr224Asn
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000419499
  ensembl transcript: ENST00000483267
  gene symbol: GYG1
  hgvsc: ENST00000483267.1:c.531T>A
  hgvsp: ENST00000483267.1:c.531T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420247
  ensembl transcript: ENST00000461191
  gene symbol: GYG1
  hgvsc: ENST00000461191.1:c.658T>A
  hgvsp: ENSP00000420247.1:p.Tyr220Asn
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420683
  ensembl transcript: ENST00000484197
  gene symbol: GYG1
  hgvsc: ENST00000484197.1:c.609-2646T>A
  variant of: http://identifiers.org/hgnc/4699
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13497
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5468
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2034
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2879
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2420
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Tyr224Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

3-148741903-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148741903
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148741903
    reference: chr 3
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420683
  ensembl transcript: ENST00000484197
  gene symbol: GYG1
  hgvsc: ENST00000484197.1:c.609-2644T>C
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000469873
  gene symbol: GYG1
  hgvsc: ENST00000469873.1:n.586T>C
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000340736
  ensembl transcript: ENST00000345003
  gene symbol: GYG1
  hgvsc: ENST00000345003.4:c.672T>C
  hgvsp: ENST00000345003.4:c.672T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000419499
  ensembl transcript: ENST00000483267
  gene symbol: GYG1
  hgvsc: ENST00000483267.1:c.533T>C
  hgvsp: ENSP00000419499.1:p.Met178Thr
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000479119
  gene symbol: GYG1
  hgvsc: ENST00000479119.1:n.225-2644T>C
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420247
  ensembl transcript: ENST00000461191
  gene symbol: GYG1
  hgvsc: ENST00000461191.1:c.660T>C
  hgvsp: ENST00000461191.1:c.660T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000296048
  ensembl transcript: ENST00000296048
  gene symbol: GYG1
  hgvsc: ENST00000296048.6:c.672T>C
  hgvsp: ENST00000296048.6:c.672T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4699
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13494
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5469
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30139
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9959
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6580
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Met178Thr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff

3-148741905-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148741905
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148741905
    reference: chr 3
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420683
  ensembl transcript: ENST00000484197
  gene symbol: GYG1
  hgvsc: ENST00000484197.1:c.609-2642A>G
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000340736
  ensembl transcript: ENST00000345003
  gene symbol: GYG1
  hgvsc: ENST00000345003.4:c.674A>G
  hgvsp: ENSP00000340736.4:p.Asp225Gly
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420247
  ensembl transcript: ENST00000461191
  gene symbol: GYG1
  hgvsc: ENST00000461191.1:c.662A>G
  hgvsp: ENSP00000420247.1:p.Asp221Gly
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000419499
  ensembl transcript: ENST00000483267
  gene symbol: GYG1
  hgvsc: ENST00000483267.1:c.535A>G
  hgvsp: ENSP00000419499.1:p.Ile179Val
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000479119
  gene symbol: GYG1
  hgvsc: ENST00000479119.1:n.225-2642A>G
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000296048
  ensembl transcript: ENST00000296048
  gene symbol: GYG1
  hgvsc: ENST00000296048.6:c.674A>G
  hgvsp: ENSP00000296048.6:p.Asp225Gly
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000469873
  gene symbol: GYG1
  hgvsc: ENST00000469873.1:n.588A>G
  variant of: http://identifiers.org/hgnc/4699
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13504
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30129
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5474
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1967
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6576
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2421
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asp225Gly
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-148741911-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148741911
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148741911
    reference: chr 3
allele count: 3
allele frequency: 2.472269378471478e-5
allele num: 121346
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420247
  ensembl transcript: ENST00000461191
  gene symbol: GYG1
  hgvsc: ENST00000461191.1:c.668A>G
  hgvsp: ENSP00000420247.1:p.Lys223Arg
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000340736
  ensembl transcript: ENST00000345003
  gene symbol: GYG1
  hgvsc: ENST00000345003.4:c.680A>G
  hgvsp: ENSP00000340736.4:p.Lys227Arg
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420683
  ensembl transcript: ENST00000484197
  gene symbol: GYG1
  hgvsc: ENST00000484197.1:c.609-2636A>G
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000419499
  ensembl transcript: ENST00000483267
  gene symbol: GYG1
  hgvsc: ENST00000483267.1:c.541A>G
  hgvsp: ENSP00000419499.1:p.Lys181Glu
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000479119
  gene symbol: GYG1
  hgvsc: ENST00000479119.1:n.225-2636A>G
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000296048
  ensembl transcript: ENST00000296048
  gene symbol: GYG1
  hgvsc: ENST00000296048.6:c.680A>G
  hgvsp: ENSP00000296048.6:p.Lys227Arg
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000469873
  gene symbol: GYG1
  hgvsc: ENST00000469873.1:n.594A>G
  variant of: http://identifiers.org/hgnc/4699
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30097
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5478
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13531
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34908
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2418
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1967
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Lys227Arg
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/3-148741913-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148741913
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148741912
    reference: chr 3
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000479119
  gene symbol: GYG1
  hgvsc: ENST00000479119.1:n.225-2633delC
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000340736
  ensembl transcript: ENST00000345003
  gene symbol: GYG1
  hgvsc: ENST00000345003.4:c.683delC
  hgvsp: ENSP00000340736.4:p.Thr228LysfsTer13
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420247
  ensembl transcript: ENST00000461191
  gene symbol: GYG1
  hgvsc: ENST00000461191.1:c.671delC
  hgvsp: ENSP00000420247.1:p.Thr224LysfsTer13
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000296048
  ensembl transcript: ENST00000296048
  gene symbol: GYG1
  hgvsc: ENST00000296048.6:c.683delC
  hgvsp: ENSP00000296048.6:p.Thr228LysfsTer13
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000419499
  ensembl transcript: ENST00000483267
  gene symbol: GYG1
  hgvsc: ENST00000483267.1:c.544delC
  hgvsp: ENSP00000419499.1:p.Gln182LysfsTer6
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000469873
  gene symbol: GYG1
  hgvsc: ENST00000469873.1:n.597delC
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420683
  ensembl transcript: ENST00000484197
  gene symbol: GYG1
  hgvsc: ENST00000484197.1:c.609-2633delC
  variant of: http://identifiers.org/hgnc/4699
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13539
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30088
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5477
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2876
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6584
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1018
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9956
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr228LysfsTer13
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: AC
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum

3-148741914-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148741914
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148741914
    reference: chr 3
allele count: 6
allele frequency: 4.944375772558714e-5
allele num: 121350
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000479119
  gene symbol: GYG1
  hgvsc: ENST00000479119.1:n.225-2633C>T
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420247
  ensembl transcript: ENST00000461191
  gene symbol: GYG1
  hgvsc: ENST00000461191.1:c.671C>T
  hgvsp: ENSP00000420247.1:p.Thr224Ile
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000296048
  ensembl transcript: ENST00000296048
  gene symbol: GYG1
  hgvsc: ENST00000296048.6:c.683C>T
  hgvsp: ENSP00000296048.6:p.Thr228Ile
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000419499
  ensembl transcript: ENST00000483267
  gene symbol: GYG1
  hgvsc: ENST00000483267.1:c.544C>T
  hgvsp: ENSP00000419499.1:p.Gln182Ter
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420683
  ensembl transcript: ENST00000484197
  gene symbol: GYG1
  hgvsc: ENST00000484197.1:c.609-2633C>T
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000469873
  gene symbol: GYG1
  hgvsc: ENST00000469873.1:n.597C>T
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000340736
  ensembl transcript: ENST00000345003
  gene symbol: GYG1
  hgvsc: ENST00000345003.4:c.683C>T
  hgvsp: ENSP00000340736.4:p.Thr228Ile
  variant of: http://identifiers.org/hgnc/4699
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30061
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13549
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5477
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1019
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1965
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gln182Ter
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD

http://identifiers.org/exac.variant/3-148741914-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148741914
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148741913
    reference: chr 3
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420683
  ensembl transcript: ENST00000484197
  gene symbol: GYG1
  hgvsc: ENST00000484197.1:c.609-2628delA
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000340736
  ensembl transcript: ENST00000345003
  gene symbol: GYG1
  hgvsc: ENST00000345003.4:c.688delA
  hgvsp: ENSP00000340736.4:p.Ser230ValfsTer11
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000419499
  ensembl transcript: ENST00000483267
  gene symbol: GYG1
  hgvsc: ENST00000483267.1:c.549delA
  hgvsp: ENSP00000419499.1:p.Val184CysfsTer4
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420247
  ensembl transcript: ENST00000461191
  gene symbol: GYG1
  hgvsc: ENST00000461191.1:c.676delA
  hgvsp: ENSP00000420247.1:p.Ser226ValfsTer11
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000469873
  gene symbol: GYG1
  hgvsc: ENST00000469873.1:n.602delA
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000479119
  gene symbol: GYG1
  hgvsc: ENST00000479119.1:n.225-2628delA
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000296048
  ensembl transcript: ENST00000296048
  gene symbol: GYG1
  hgvsc: ENST00000296048.6:c.688delA
  hgvsp: ENSP00000296048.6:p.Ser230ValfsTer11
  variant of: http://identifiers.org/hgnc/4699
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13549
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5477
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30061
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2876
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1965
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1019
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser230ValfsTer11
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: CA
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

3-148741931-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148741931
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148741931
    reference: chr 3
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000340736
  ensembl transcript: ENST00000345003
  gene symbol: GYG1
  hgvsc: ENST00000345003.4:c.700G>A
  hgvsp: ENSP00000340736.4:p.Glu234Lys
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420247
  ensembl transcript: ENST00000461191
  gene symbol: GYG1
  hgvsc: ENST00000461191.1:c.688G>A
  hgvsp: ENSP00000420247.1:p.Glu230Lys
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000479119
  gene symbol: GYG1
  hgvsc: ENST00000479119.1:n.225-2616G>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000469873
  gene symbol: GYG1
  hgvsc: ENST00000469873.1:n.614G>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420683
  ensembl transcript: ENST00000484197
  gene symbol: GYG1
  hgvsc: ENST00000484197.1:c.609-2616G>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000419499
  ensembl transcript: ENST00000483267
  gene symbol: GYG1
  hgvsc: ENST00000483267.1:c.561G>A
  hgvsp: ENST00000483267.1:c.561G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000296048
  ensembl transcript: ENST00000296048
  gene symbol: GYG1
  hgvsc: ENST00000296048.6:c.700G>A
  hgvsp: ENSP00000296048.6:p.Glu234Lys
  variant of: http://identifiers.org/hgnc/4699
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2032
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5489
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30077
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13543
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34932
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2868
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu234Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

3-148741932-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148741932
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148741932
    reference: chr 3
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420247
  ensembl transcript: ENST00000461191
  gene symbol: GYG1
  hgvsc: ENST00000461191.1:c.689A>G
  hgvsp: ENSP00000420247.1:p.Glu230Gly
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000469873
  gene symbol: GYG1
  hgvsc: ENST00000469873.1:n.615A>G
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000479119
  gene symbol: GYG1
  hgvsc: ENST00000479119.1:n.225-2615A>G
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000296048
  ensembl transcript: ENST00000296048
  gene symbol: GYG1
  hgvsc: ENST00000296048.6:c.701A>G
  hgvsp: ENSP00000296048.6:p.Glu234Gly
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420683
  ensembl transcript: ENST00000484197
  gene symbol: GYG1
  hgvsc: ENST00000484197.1:c.609-2615A>G
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000419499
  ensembl transcript: ENST00000483267
  gene symbol: GYG1
  hgvsc: ENST00000483267.1:c.562A>G
  hgvsp: ENSP00000419499.1:p.Arg188Gly
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000340736
  ensembl transcript: ENST00000345003
  gene symbol: GYG1
  hgvsc: ENST00000345003.4:c.701A>G
  hgvsp: ENSP00000340736.4:p.Glu234Gly
  variant of: http://identifiers.org/hgnc/4699
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2032
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5491
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13539
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30080
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2868
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1965
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1018
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34941
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu234Gly
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD

3-148741936-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148741936
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148741936
    reference: chr 3
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420683
  ensembl transcript: ENST00000484197
  gene symbol: GYG1
  hgvsc: ENST00000484197.1:c.609-2611C>T
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000296048
  ensembl transcript: ENST00000296048
  gene symbol: GYG1
  hgvsc: ENST00000296048.6:c.705C>T
  hgvsp: ENST00000296048.6:c.705C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000469873
  gene symbol: GYG1
  hgvsc: ENST00000469873.1:n.619C>T
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000340736
  ensembl transcript: ENST00000345003
  gene symbol: GYG1
  hgvsc: ENST00000345003.4:c.705C>T
  hgvsp: ENST00000345003.4:c.705C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000419499
  ensembl transcript: ENST00000483267
  gene symbol: GYG1
  hgvsc: ENST00000483267.1:c.566C>T
  hgvsp: ENSP00000419499.1:p.Pro189Leu
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420247
  ensembl transcript: ENST00000461191
  gene symbol: GYG1
  hgvsc: ENST00000461191.1:c.693C>T
  hgvsp: ENST00000461191.1:c.693C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000479119
  gene symbol: GYG1
  hgvsc: ENST00000479119.1:n.225-2611C>T
  variant of: http://identifiers.org/hgnc/4699
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30076
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5493
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13545
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2873
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro189Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/3-148741937-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148741937
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148741937
    reference: chr 3
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000479119
  gene symbol: GYG1
  hgvsc: ENST00000479119.1:n.225-2610C>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420683
  ensembl transcript: ENST00000484197
  gene symbol: GYG1
  hgvsc: ENST00000484197.1:c.609-2610C>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000296048
  ensembl transcript: ENST00000296048
  gene symbol: GYG1
  hgvsc: ENST00000296048.6:c.706C>A
  hgvsp: ENSP00000296048.6:p.His236Asn
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420247
  ensembl transcript: ENST00000461191
  gene symbol: GYG1
  hgvsc: ENST00000461191.1:c.694C>A
  hgvsp: ENSP00000420247.1:p.His232Asn
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000340736
  ensembl transcript: ENST00000345003
  gene symbol: GYG1
  hgvsc: ENST00000345003.4:c.706C>A
  hgvsp: ENSP00000340736.4:p.His236Asn
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000419499
  ensembl transcript: ENST00000483267
  gene symbol: GYG1
  hgvsc: ENST00000483267.1:c.567C>A
  hgvsp: ENST00000483267.1:c.567C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000469873
  gene symbol: GYG1
  hgvsc: ENST00000469873.1:n.620C>A
  variant of: http://identifiers.org/hgnc/4699
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30076
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13550
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5492
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2869
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6590
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 9.25e1
  variant carriers: 0
hgvs: p.His236Asn
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-148741960-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148741960
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148741960
    reference: chr 3
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000296048
  ensembl transcript: ENST00000296048
  gene symbol: GYG1
  hgvsc: ENST00000296048.6:c.729A>G
  hgvsp: ENST00000296048.6:c.729A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420683
  ensembl transcript: ENST00000484197
  gene symbol: GYG1
  hgvsc: ENST00000484197.1:c.609-2587A>G
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420247
  ensembl transcript: ENST00000461191
  gene symbol: GYG1
  hgvsc: ENST00000461191.1:c.717A>G
  hgvsp: ENST00000461191.1:c.717A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000340736
  ensembl transcript: ENST00000345003
  gene symbol: GYG1
  hgvsc: ENST00000345003.4:c.729A>G
  hgvsp: ENST00000345003.4:c.729A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000469873
  gene symbol: GYG1
  hgvsc: ENST00000469873.1:n.643A>G
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000479119
  gene symbol: GYG1
  hgvsc: ENST00000479119.1:n.225-2587A>G
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000419499
  ensembl transcript: ENST00000483267
  gene symbol: GYG1
  hgvsc: ENST00000483267.1:c.*8A>G
  variant of: http://identifiers.org/hgnc/4699
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30071
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13563
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5492
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2417
  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: 9955
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro243Pro
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

3-148741965-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148741965
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148741965
    reference: chr 3
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000296048
  ensembl transcript: ENST00000296048
  gene symbol: GYG1
  hgvsc: ENST00000296048.6:c.734T>C
  hgvsp: ENSP00000296048.6:p.Phe245Ser
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000419499
  ensembl transcript: ENST00000483267
  gene symbol: GYG1
  hgvsc: ENST00000483267.1:c.*13T>C
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420683
  ensembl transcript: ENST00000484197
  gene symbol: GYG1
  hgvsc: ENST00000484197.1:c.609-2582T>C
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000469873
  gene symbol: GYG1
  hgvsc: ENST00000469873.1:n.648T>C
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420247
  ensembl transcript: ENST00000461191
  gene symbol: GYG1
  hgvsc: ENST00000461191.1:c.722T>C
  hgvsp: ENSP00000420247.1:p.Phe241Ser
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000340736
  ensembl transcript: ENST00000345003
  gene symbol: GYG1
  hgvsc: ENST00000345003.4:c.734T>C
  hgvsp: ENSP00000340736.4:p.Phe245Ser
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000479119
  gene symbol: GYG1
  hgvsc: ENST00000479119.1:n.225-2582T>C
  variant of: http://identifiers.org/hgnc/4699
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30077
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5491
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13559
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1966
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2865
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9955
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Phe245Ser
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum

3-148741969-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148741969
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148741969
    reference: chr 3
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000479119
  gene symbol: GYG1
  hgvsc: ENST00000479119.1:n.225-2578C>T
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000419499
  ensembl transcript: ENST00000483267
  gene symbol: GYG1
  hgvsc: ENST00000483267.1:c.*17C>T
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420247
  ensembl transcript: ENST00000461191
  gene symbol: GYG1
  hgvsc: ENST00000461191.1:c.726C>T
  hgvsp: ENST00000461191.1:c.726C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420683
  ensembl transcript: ENST00000484197
  gene symbol: GYG1
  hgvsc: ENST00000484197.1:c.609-2578C>T
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000469873
  gene symbol: GYG1
  hgvsc: ENST00000469873.1:n.652C>T
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000340736
  ensembl transcript: ENST00000345003
  gene symbol: GYG1
  hgvsc: ENST00000345003.4:c.738C>T
  hgvsp: ENST00000345003.4:c.738C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000296048
  ensembl transcript: ENST00000296048
  gene symbol: GYG1
  hgvsc: ENST00000296048.6:c.738C>T
  hgvsp: ENST00000296048.6:c.738C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4699
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30075
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13567
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2032
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5489
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9954
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6586
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu246Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

3-148741977-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148741977
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148741977
    reference: chr 3
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000296048
  ensembl transcript: ENST00000296048
  gene symbol: GYG1
  hgvsc: ENST00000296048.6:c.746G>A
  hgvsp: ENSP00000296048.6:p.Trp249Ter
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000340736
  ensembl transcript: ENST00000345003
  gene symbol: GYG1
  hgvsc: ENST00000345003.4:c.746G>A
  hgvsp: ENSP00000340736.4:p.Trp249Ter
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420247
  ensembl transcript: ENST00000461191
  gene symbol: GYG1
  hgvsc: ENST00000461191.1:c.734G>A
  hgvsp: ENSP00000420247.1:p.Trp245Ter
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000479119
  gene symbol: GYG1
  hgvsc: ENST00000479119.1:n.225-2570G>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000419499
  ensembl transcript: ENST00000483267
  gene symbol: GYG1
  hgvsc: ENST00000483267.1:c.*25G>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000469873
  gene symbol: GYG1
  hgvsc: ENST00000469873.1:n.660G>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420683
  ensembl transcript: ENST00000484197
  gene symbol: GYG1
  hgvsc: ENST00000484197.1:c.609-2570G>A
  variant of: http://identifiers.org/hgnc/4699
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30071
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5491
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13565
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2034
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34963
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6584
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1966
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Trp249Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP

3-148741986-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148741986
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148741986
    reference: chr 3
allele count: 2
allele frequency: 1.648233917357551e-5
allele num: 121342
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000296048
  ensembl transcript: ENST00000296048
  gene symbol: GYG1
  hgvsc: ENST00000296048.6:c.755T>C
  hgvsp: ENSP00000296048.6:p.Ile252Thr
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000469873
  gene symbol: GYG1
  hgvsc: ENST00000469873.1:n.669T>C
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000479119
  gene symbol: GYG1
  hgvsc: ENST00000479119.1:n.225-2561T>C
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000419499
  ensembl transcript: ENST00000483267
  gene symbol: GYG1
  hgvsc: ENST00000483267.1:c.*34T>C
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420247
  ensembl transcript: ENST00000461191
  gene symbol: GYG1
  hgvsc: ENST00000461191.1:c.743T>C
  hgvsp: ENSP00000420247.1:p.Ile248Thr
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420683
  ensembl transcript: ENST00000484197
  gene symbol: GYG1
  hgvsc: ENST00000484197.1:c.609-2561T>C
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000340736
  ensembl transcript: ENST00000345003
  gene symbol: GYG1
  hgvsc: ENST00000345003.4:c.755T>C
  hgvsp: ENSP00000340736.4:p.Ile252Thr
  variant of: http://identifiers.org/hgnc/4699
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5490
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30064
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13567
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2032
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6586
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2409
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9955
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2866
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ile252Thr
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

3-148741987-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148741987
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148741987
    reference: chr 3
allele count: 1
allele frequency: 8.241169586787756e-6
allele num: 121342
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000469873
  gene symbol: GYG1
  hgvsc: ENST00000469873.1:n.670C>T
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000296048
  ensembl transcript: ENST00000296048
  gene symbol: GYG1
  hgvsc: ENST00000296048.6:c.756C>T
  hgvsp: ENST00000296048.6:c.756C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420683
  ensembl transcript: ENST00000484197
  gene symbol: GYG1
  hgvsc: ENST00000484197.1:c.609-2560C>T
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420247
  ensembl transcript: ENST00000461191
  gene symbol: GYG1
  hgvsc: ENST00000461191.1:c.744C>T
  hgvsp: ENST00000461191.1:c.744C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000419499
  ensembl transcript: ENST00000483267
  gene symbol: GYG1
  hgvsc: ENST00000483267.1:c.*35C>T
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000479119
  gene symbol: GYG1
  hgvsc: ENST00000479119.1:n.225-2560C>T
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000340736
  ensembl transcript: ENST00000345003
  gene symbol: GYG1
  hgvsc: ENST00000345003.4:c.756C>T
  hgvsp: ENST00000345003.4:c.756C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4699
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5491
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2034
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30065
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13566
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2867
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6586
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ile252Ile
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD

3-148741989-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148741989
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148741989
    reference: chr 3
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420247
  ensembl transcript: ENST00000461191
  gene symbol: GYG1
  hgvsc: ENST00000461191.1:c.746T>G
  hgvsp: ENSP00000420247.1:p.Phe249Cys
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000296048
  ensembl transcript: ENST00000296048
  gene symbol: GYG1
  hgvsc: ENST00000296048.6:c.758T>G
  hgvsp: ENSP00000296048.6:p.Phe253Cys
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420683
  ensembl transcript: ENST00000484197
  gene symbol: GYG1
  hgvsc: ENST00000484197.1:c.609-2558T>G
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000419499
  ensembl transcript: ENST00000483267
  gene symbol: GYG1
  hgvsc: ENST00000483267.1:c.*37T>G
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000340736
  ensembl transcript: ENST00000345003
  gene symbol: GYG1
  hgvsc: ENST00000345003.4:c.758T>G
  hgvsp: ENSP00000340736.4:p.Phe253Cys
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000469873
  gene symbol: GYG1
  hgvsc: ENST00000469873.1:n.672T>G
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000479119
  gene symbol: GYG1
  hgvsc: ENST00000479119.1:n.225-2558T>G
  variant of: http://identifiers.org/hgnc/4699
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30062
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13563
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5492
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1966
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2409
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9954
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Phe253Cys
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP

3-148741992-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148741992
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148741992
    reference: chr 3
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000419499
  ensembl transcript: ENST00000483267
  gene symbol: GYG1
  hgvsc: ENST00000483267.1:c.*40C>T
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000340736
  ensembl transcript: ENST00000345003
  gene symbol: GYG1
  hgvsc: ENST00000345003.4:c.761C>T
  hgvsp: ENSP00000340736.4:p.Thr254Ile
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000469873
  gene symbol: GYG1
  hgvsc: ENST00000469873.1:n.675C>T
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420683
  ensembl transcript: ENST00000484197
  gene symbol: GYG1
  hgvsc: ENST00000484197.1:c.609-2555C>T
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000479119
  gene symbol: GYG1
  hgvsc: ENST00000479119.1:n.225-2555C>T
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420247
  ensembl transcript: ENST00000461191
  gene symbol: GYG1
  hgvsc: ENST00000461191.1:c.749C>T
  hgvsp: ENSP00000420247.1:p.Thr250Ile
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000296048
  ensembl transcript: ENST00000296048
  gene symbol: GYG1
  hgvsc: ENST00000296048.6:c.761C>T
  hgvsp: ENSP00000296048.6:p.Thr254Ile
  variant of: http://identifiers.org/hgnc/4699
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13561
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30067
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5491
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34940
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1966
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr254Ile
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/3-148741995-CCAA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148741995
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148741992
    reference: chr 3
allele count: 2
allele frequency: 1.648261084555794e-5
allele num: 121340
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000419499
  ensembl transcript: ENST00000483267
  gene symbol: GYG1
  hgvsc: ENST00000483267.1:c.*45_*47delAAC
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000340736
  ensembl transcript: ENST00000345003
  gene symbol: GYG1
  hgvsc: ENST00000345003.4:c.766_768delAAC
  hgvsp: ENSP00000340736.4:p.Asn256del
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420247
  ensembl transcript: ENST00000461191
  gene symbol: GYG1
  hgvsc: ENST00000461191.1:c.754_756delAAC
  hgvsp: ENSP00000420247.1:p.Asn252del
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000296048
  ensembl transcript: ENST00000296048
  gene symbol: GYG1
  hgvsc: ENST00000296048.6:c.766_768delAAC
  hgvsp: ENSP00000296048.6:p.Asn256del
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000469873
  gene symbol: GYG1
  hgvsc: ENST00000469873.1:n.680_682delAAC
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000479119
  gene symbol: GYG1
  hgvsc: ENST00000479119.1:n.225-2550_225-2548delAAC
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420683
  ensembl transcript: ENST00000484197
  gene symbol: GYG1
  hgvsc: ENST00000484197.1:c.609-2550_609-2548delAAC
  variant of: http://identifiers.org/hgnc/4699
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30068
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5491
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13558
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2406
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34946
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2867
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1966
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asn256del
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
reference allele: CCAA
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD

http://identifiers.org/exac.variant/3-148741998-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148741998
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148741998
    reference: chr 3
allele count: 43
allele frequency: 3.543644514767933e-4
allele num: 121344
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000340736
  ensembl transcript: ENST00000345003
  gene symbol: GYG1
  hgvsc: ENST00000345003.4:c.767A>C
  hgvsp: ENSP00000340736.4:p.Asn256Thr
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420247
  ensembl transcript: ENST00000461191
  gene symbol: GYG1
  hgvsc: ENST00000461191.1:c.755A>C
  hgvsp: ENSP00000420247.1:p.Asn252Thr
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000469873
  gene symbol: GYG1
  hgvsc: ENST00000469873.1:n.681A>C
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420683
  ensembl transcript: ENST00000484197
  gene symbol: GYG1
  hgvsc: ENST00000484197.1:c.609-2549A>C
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000296048
  ensembl transcript: ENST00000296048
  gene symbol: GYG1
  hgvsc: ENST00000296048.6:c.767A>C
  hgvsp: ENSP00000296048.6:p.Asn256Thr
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000479119
  gene symbol: GYG1
  hgvsc: ENST00000479119.1:n.225-2549A>C
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000419499
  ensembl transcript: ENST00000483267
  gene symbol: GYG1
  hgvsc: ENST00000483267.1:c.*46A>C
  variant of: http://identifiers.org/hgnc/4699
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 9.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5487
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13559
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30045
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1964
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asn256Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff

3-148742000-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148742000
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148742000
    reference: chr 3
allele count: 3
allele frequency: 2.472350876036327e-5
allele num: 121342
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000419499
  ensembl transcript: ENST00000483267
  gene symbol: GYG1
  hgvsc: ENST00000483267.1:c.*48G>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000469873
  gene symbol: GYG1
  hgvsc: ENST00000469873.1:n.683G>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420683
  ensembl transcript: ENST00000484197
  gene symbol: GYG1
  hgvsc: ENST00000484197.1:c.609-2547G>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000340736
  ensembl transcript: ENST00000345003
  gene symbol: GYG1
  hgvsc: ENST00000345003.4:c.769G>A
  hgvsp: ENSP00000340736.4:p.Val257Ile
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420247
  ensembl transcript: ENST00000461191
  gene symbol: GYG1
  hgvsc: ENST00000461191.1:c.757G>A
  hgvsp: ENSP00000420247.1:p.Val253Ile
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000479119
  gene symbol: GYG1
  hgvsc: ENST00000479119.1:n.225-2547G>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000296048
  ensembl transcript: ENST00000296048
  gene symbol: GYG1
  hgvsc: ENST00000296048.6:c.769G>A
  hgvsp: ENSP00000296048.6:p.Val257Ile
  variant of: http://identifiers.org/hgnc/4699
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30046
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5502
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13570
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9954
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6587
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1022
  bin: 9.25e1
  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: 21
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val257Ile
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff

3-148742002-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148742002
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148742002
    reference: chr 3
allele count: 1
allele frequency: 8.241169586787756e-6
allele num: 121342
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420247
  ensembl transcript: ENST00000461191
  gene symbol: GYG1
  hgvsc: ENST00000461191.1:c.759T>C
  hgvsp: ENST00000461191.1:c.759T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000296048
  ensembl transcript: ENST00000296048
  gene symbol: GYG1
  hgvsc: ENST00000296048.6:c.771T>C
  hgvsp: ENST00000296048.6:c.771T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000419499
  ensembl transcript: ENST00000483267
  gene symbol: GYG1
  hgvsc: ENST00000483267.1:c.*50T>C
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420683
  ensembl transcript: ENST00000484197
  gene symbol: GYG1
  hgvsc: ENST00000484197.1:c.609-2545T>C
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000469873
  gene symbol: GYG1
  hgvsc: ENST00000469873.1:n.685T>C
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000479119
  gene symbol: GYG1
  hgvsc: ENST00000479119.1:n.225-2545T>C
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000340736
  ensembl transcript: ENST00000345003
  gene symbol: GYG1
  hgvsc: ENST00000345003.4:c.771T>C
  hgvsp: ENST00000345003.4:c.771T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4699
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5500
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30043
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2034
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13575
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6587
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val257Val
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/3-148742019-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148742019
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148742019
    reference: chr 3
allele count: 5
allele frequency: 4.120992334954257e-5
allele num: 121330
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420683
  ensembl transcript: ENST00000484197
  gene symbol: GYG1
  hgvsc: ENST00000484197.1:c.609-2528A>C
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000296048
  ensembl transcript: ENST00000296048
  gene symbol: GYG1
  hgvsc: ENST00000296048.6:c.788A>C
  hgvsp: ENSP00000296048.6:p.Gln263Pro
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000479119
  gene symbol: GYG1
  hgvsc: ENST00000479119.1:n.225-2528A>C
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000340736
  ensembl transcript: ENST00000345003
  gene symbol: GYG1
  hgvsc: ENST00000345003.4:c.788A>C
  hgvsp: ENSP00000340736.4:p.Gln263Pro
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420247
  ensembl transcript: ENST00000461191
  gene symbol: GYG1
  hgvsc: ENST00000461191.1:c.776A>C
  hgvsp: ENSP00000420247.1:p.Gln259Pro
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000419499
  ensembl transcript: ENST00000483267
  gene symbol: GYG1
  hgvsc: ENST00000483267.1:c.*67A>C
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000469873
  gene symbol: GYG1
  hgvsc: ENST00000469873.1:n.702A>C
  variant of: http://identifiers.org/hgnc/4699
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2034
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30034
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13573
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5502
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34955
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9956
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln263Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-148742022-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148742022
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148742022
    reference: chr 3
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420247
  ensembl transcript: ENST00000461191
  gene symbol: GYG1
  hgvsc: ENST00000461191.1:c.779T>C
  hgvsp: ENSP00000420247.1:p.Phe260Ser
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000419499
  ensembl transcript: ENST00000483267
  gene symbol: GYG1
  hgvsc: ENST00000483267.1:c.*70T>C
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420683
  ensembl transcript: ENST00000484197
  gene symbol: GYG1
  hgvsc: ENST00000484197.1:c.609-2525T>C
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000340736
  ensembl transcript: ENST00000345003
  gene symbol: GYG1
  hgvsc: ENST00000345003.4:c.791T>C
  hgvsp: ENSP00000340736.4:p.Phe264Ser
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000296048
  ensembl transcript: ENST00000296048
  gene symbol: GYG1
  hgvsc: ENST00000296048.6:c.791T>C
  hgvsp: ENSP00000296048.6:p.Phe264Ser
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000479119
  gene symbol: GYG1
  hgvsc: ENST00000479119.1:n.225-2525T>C
  variant of: http://identifiers.org/hgnc/4699
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13574
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5505
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30030
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2407
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6576
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34950
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Phe264Ser
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: T
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

3-148742030-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148742030
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148742030
    reference: chr 3
allele count: 1
allele frequency: 8.243071698237632e-6
allele num: 121314
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420247
  ensembl transcript: ENST00000461191
  gene symbol: GYG1
  hgvsc: ENST00000461191.1:c.787G>A
  hgvsp: ENSP00000420247.1:p.Val263Ile
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000419499
  ensembl transcript: ENST00000483267
  gene symbol: GYG1
  hgvsc: ENST00000483267.1:c.*78G>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000296048
  ensembl transcript: ENST00000296048
  gene symbol: GYG1
  hgvsc: ENST00000296048.6:c.799G>A
  hgvsp: ENSP00000296048.6:p.Val267Ile
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420683
  ensembl transcript: ENST00000484197
  gene symbol: GYG1
  hgvsc: ENST00000484197.1:c.609-2517G>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000340736
  ensembl transcript: ENST00000345003
  gene symbol: GYG1
  hgvsc: ENST00000345003.4:c.799G>A
  hgvsp: ENSP00000340736.4:p.Val267Ile
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000479119
  gene symbol: GYG1
  hgvsc: ENST00000479119.1:n.225-2517G>A
  variant of: http://identifiers.org/hgnc/4699
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30018
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5506
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13574
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2407
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1966
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val267Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

3-148742032-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148742032
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148742032
    reference: chr 3
allele count: 1
allele frequency: 8.24334350012365e-6
allele num: 121310
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000479119
  gene symbol: GYG1
  hgvsc: ENST00000479119.1:n.225-2515C>G
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000296048
  ensembl transcript: ENST00000296048
  gene symbol: GYG1
  hgvsc: ENST00000296048.6:c.801C>G
  hgvsp: ENST00000296048.6:c.801C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420683
  ensembl transcript: ENST00000484197
  gene symbol: GYG1
  hgvsc: ENST00000484197.1:c.609-2515C>G
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420247
  ensembl transcript: ENST00000461191
  gene symbol: GYG1
  hgvsc: ENST00000461191.1:c.789C>G
  hgvsp: ENST00000461191.1:c.789C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000419499
  ensembl transcript: ENST00000483267
  gene symbol: GYG1
  hgvsc: ENST00000483267.1:c.*80C>G
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000340736
  ensembl transcript: ENST00000345003
  gene symbol: GYG1
  hgvsc: ENST00000345003.4:c.801C>G
  hgvsp: ENST00000345003.4:c.801C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4699
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5508
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30017
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13574
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2409
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1967
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6576
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val267Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD

3-148742056-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148742056
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148742056
    reference: chr 3
allele count: 1
allele frequency: 8.251233559417133e-6
allele num: 121194
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420683
  ensembl transcript: ENST00000484197
  gene symbol: GYG1
  hgvsc: ENST00000484197.1:c.609-2491T>C
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000479119
  gene symbol: GYG1
  hgvsc: ENST00000479119.1:n.225-2491T>C
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000340736
  ensembl transcript: ENST00000345003
  gene symbol: GYG1
  hgvsc: ENST00000345003.4:c.825T>C
  hgvsp: ENST00000345003.4:c.825T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000296048
  ensembl transcript: ENST00000296048
  gene symbol: GYG1
  hgvsc: ENST00000296048.6:c.825T>C
  hgvsp: ENST00000296048.6:c.825T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4699
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5476
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13520
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2018
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29874
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2866
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9951
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2399
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34722
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6548
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asn275Asn
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD

3-148742064-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148742064
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148742064
    reference: chr 3
allele count: 5
allele frequency: 4.129091930102732e-5
allele num: 121092
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000296048
  ensembl transcript: ENST00000296048
  gene symbol: GYG1
  hgvsc: ENST00000296048.6:c.828+5G>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000340736
  ensembl transcript: ENST00000345003
  gene symbol: GYG1
  hgvsc: ENST00000345003.4:c.828+5G>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420683
  ensembl transcript: ENST00000484197
  gene symbol: GYG1
  hgvsc: ENST00000484197.1:c.609-2483G>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000479119
  gene symbol: GYG1
  hgvsc: ENST00000479119.1:n.225-2483G>A
  variant of: http://identifiers.org/hgnc/4699
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5445
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29791
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13430
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2011
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6504
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2399
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1962
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34565
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1022
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2861
  bin: 7.75e1
  variant carriers: 0
hgvs: c.828+5G>A
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

3-148742068-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148742068
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148742068
    reference: chr 3
allele count: 1
allele frequency: 8.262414277451872e-6
allele num: 121030
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000340736
  ensembl transcript: ENST00000345003
  gene symbol: GYG1
  hgvsc: ENST00000345003.4:c.828+9T>C
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000479119
  gene symbol: GYG1
  hgvsc: ENST00000479119.1:n.225-2479T>C
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000296048
  ensembl transcript: ENST00000296048
  gene symbol: GYG1
  hgvsc: ENST00000296048.6:c.828+9T>C
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420683
  ensembl transcript: ENST00000484197
  gene symbol: GYG1
  hgvsc: ENST00000484197.1:c.609-2479T>C
  variant of: http://identifiers.org/hgnc/4699
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13400
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5413
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2009
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29695
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6484
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34429
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9950
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1962
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum

3-148742075-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148742075
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148742075
    reference: chr 3
allele count: 1
allele frequency: 8.277734549608463e-6
allele num: 120806
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420683
  ensembl transcript: ENST00000484197
  gene symbol: GYG1
  hgvsc: ENST00000484197.1:c.609-2472T>C
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000340736
  ensembl transcript: ENST00000345003
  gene symbol: GYG1
  hgvsc: ENST00000345003.4:c.828+16T>C
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000479119
  gene symbol: GYG1
  hgvsc: ENST00000479119.1:n.225-2472T>C
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000296048
  ensembl transcript: ENST00000296048
  gene symbol: GYG1
  hgvsc: ENST00000296048.6:c.828+16T>C
  variant of: http://identifiers.org/hgnc/4699
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13297
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5393
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2008
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33906
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9952
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2388
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6456
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2858
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1960
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP

3-148742104-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148742104
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148742104
    reference: chr 3
allele count: 7
allele frequency: 5.877216550241806e-5
allele num: 119104
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000296048
  ensembl transcript: ENST00000296048
  gene symbol: GYG1
  hgvsc: ENST00000296048.6:c.828+45A>T
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000479119
  gene symbol: GYG1
  hgvsc: ENST00000479119.1:n.225-2443A>T
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000340736
  ensembl transcript: ENST00000345003
  gene symbol: GYG1
  hgvsc: ENST00000345003.4:c.828+45A>T
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420683
  ensembl transcript: ENST00000484197
  gene symbol: GYG1
  hgvsc: ENST00000484197.1:c.609-2443A>T
  variant of: http://identifiers.org/hgnc/4699
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4720
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11508
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24611
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2417
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2363
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9953
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1514
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1420
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1204
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1945
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2369
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1886
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

3-148742110-ATTG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148742110
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148742107
    reference: chr 3
allele count: 19
allele frequency: 1.599973053085422e-4
allele num: 118752
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000340736
  ensembl transcript: ENST00000345003
  gene symbol: GYG1
  hgvsc: ENST00000345003.4:c.828+56_828+58delTGT
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420683
  ensembl transcript: ENST00000484197
  gene symbol: GYG1
  hgvsc: ENST00000484197.1:c.609-2432_609-2430delTGT
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000479119
  gene symbol: GYG1
  hgvsc: ENST00000479119.1:n.225-2432_225-2430delTGT
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000296048
  ensembl transcript: ENST00000296048
  gene symbol: GYG1
  hgvsc: ENST00000296048.6:c.828+56_828+58delTGT
  variant of: http://identifiers.org/hgnc/4699
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4754
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5150
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1861
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23950
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1233
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1606
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9969
  bin: 9.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 4009
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1960
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: ATTG
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

3-148744189-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148744189
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148744189
    reference: chr 3
allele count: 2
allele frequency: 1.648206751054852e-5
allele num: 121344
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420683
  ensembl transcript: ENST00000484197
  gene symbol: GYG1
  hgvsc: ENST00000484197.1:c.609-358T>C
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000479119
  gene symbol: GYG1
  hgvsc: ENST00000479119.1:n.225-358T>C
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000296048
  ensembl transcript: ENST00000296048
  gene symbol: GYG1
  hgvsc: ENST00000296048.6:c.829-358T>C
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000340736
  ensembl transcript: ENST00000345003
  gene symbol: GYG1
  hgvsc: ENST00000345003.4:c.829-50T>C
  variant of: http://identifiers.org/hgnc/4699
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2763
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6513
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5389
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2524
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4040
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2043
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1434
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1247
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1595
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum

3-148744195-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148744195
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148744194
    reference: chr 3
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000340736
  ensembl transcript: ENST00000345003
  gene symbol: GYG1
  hgvsc: ENST00000345003.4:c.829-41delC
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000479119
  gene symbol: GYG1
  hgvsc: ENST00000479119.1:n.225-349delC
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420683
  ensembl transcript: ENST00000484197
  gene symbol: GYG1
  hgvsc: ENST00000484197.1:c.609-349delC
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000296048
  ensembl transcript: ENST00000296048
  gene symbol: GYG1
  hgvsc: ENST00000296048.6:c.829-349delC
  variant of: http://identifiers.org/hgnc/4699
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4034
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6514
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2777
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4266
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6035
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6078
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5391
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7597
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2524
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5145
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2040
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 823
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1262
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1623
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1585
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50648
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1113
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: TC
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

http://identifiers.org/exac.variant/3-148744197-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148744197
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148744197
    reference: chr 3
allele count: 109
allele frequency: 8.982726793248945e-4
allele num: 121344
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000479119
  gene symbol: GYG1
  hgvsc: ENST00000479119.1:n.225-350C>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420683
  ensembl transcript: ENST00000484197
  gene symbol: GYG1
  hgvsc: ENST00000484197.1:c.609-350C>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000296048
  ensembl transcript: ENST00000296048
  gene symbol: GYG1
  hgvsc: ENST00000296048.6:c.829-350C>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000340736
  ensembl transcript: ENST00000345003
  gene symbol: GYG1
  hgvsc: ENST00000345003.4:c.829-42C>A
  variant of: http://identifiers.org/hgnc/4699
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5138
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4032
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3321
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6083
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 7611
  bin: 9.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 4272
  bin: 6.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5391
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 8.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 6032
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1648
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6511
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2520
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2779
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 50655
  bin: 9.75e1
  variant carriers: 108
genotype quality: GenotypeQuality
  all individuals: 19
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1629
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1251
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 823
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1429
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1582
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2042
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 1
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

3-148744208-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148744208
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148744208
    reference: chr 3
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000296048
  ensembl transcript: ENST00000296048
  gene symbol: GYG1
  hgvsc: ENST00000296048.6:c.829-339C>T
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420683
  ensembl transcript: ENST00000484197
  gene symbol: GYG1
  hgvsc: ENST00000484197.1:c.609-339C>T
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000340736
  ensembl transcript: ENST00000345003
  gene symbol: GYG1
  hgvsc: ENST00000345003.4:c.829-31C>T
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000479119
  gene symbol: GYG1
  hgvsc: ENST00000479119.1:n.225-339C>T
  variant of: http://identifiers.org/hgnc/4699
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6037
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2792
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2520
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5392
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4036
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7594
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3321
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6513
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5144
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6082
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50640
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2050
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 12
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1114
  bin: 8.75e1
  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
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum

3-148744211-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148744211
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148744211
    reference: chr 3
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420683
  ensembl transcript: ENST00000484197
  gene symbol: GYG1
  hgvsc: ENST00000484197.1:c.609-336C>G
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000479119
  gene symbol: GYG1
  hgvsc: ENST00000479119.1:n.225-336C>G
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000296048
  ensembl transcript: ENST00000296048
  gene symbol: GYG1
  hgvsc: ENST00000296048.6:c.829-336C>G
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000340736
  ensembl transcript: ENST00000345003
  gene symbol: GYG1
  hgvsc: ENST00000345003.4:c.829-28C>G
  variant of: http://identifiers.org/hgnc/4699
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4035
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6513
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2520
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6081
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5393
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3322
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7594
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6037
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5144
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1594
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1266
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1695
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1114
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1437
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50640
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/3-148744215-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148744215
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148744215
    reference: chr 3
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000296048
  ensembl transcript: ENST00000296048
  gene symbol: GYG1
  hgvsc: ENST00000296048.6:c.829-332C>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420683
  ensembl transcript: ENST00000484197
  gene symbol: GYG1
  hgvsc: ENST00000484197.1:c.609-332C>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000340736
  ensembl transcript: ENST00000345003
  gene symbol: GYG1
  hgvsc: ENST00000345003.4:c.829-24C>A
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000479119
  gene symbol: GYG1
  hgvsc: ENST00000479119.1:n.225-332C>A
  variant of: http://identifiers.org/hgnc/4699
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6082
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6037
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4038
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5393
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6513
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3321
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5144
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2520
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7594
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1704
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2050
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1114
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1437
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

3-148744216-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148744216
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148744216
    reference: chr 3
allele count: 7
allele frequency: 5.766917664892653e-5
allele num: 121382
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420683
  ensembl transcript: ENST00000484197
  gene symbol: GYG1
  hgvsc: ENST00000484197.1:c.609-331A>G
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000479119
  gene symbol: GYG1
  hgvsc: ENST00000479119.1:n.225-331A>G
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000296048
  ensembl transcript: ENST00000296048
  gene symbol: GYG1
  hgvsc: ENST00000296048.6:c.829-331A>G
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000340736
  ensembl transcript: ENST00000345003
  gene symbol: GYG1
  hgvsc: ENST00000345003.4:c.829-23A>G
  variant of: http://identifiers.org/hgnc/4699
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7597
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 6512
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4036
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6081
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5146
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4273
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6038
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5392
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3321
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2794
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1114
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1594
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1264
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2051
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50641
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1437
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1706
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

3-148744221-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148744221
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148744221
    reference: chr 3
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000340736
  ensembl transcript: ENST00000345003
  gene symbol: GYG1
  hgvsc: ENST00000345003.4:c.829-18C>G
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl transcript: ENST00000479119
  gene symbol: GYG1
  hgvsc: ENST00000479119.1:n.225-326C>G
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000420683
  ensembl transcript: ENST00000484197
  gene symbol: GYG1
  hgvsc: ENST00000484197.1:c.609-326C>G
  variant of: http://identifiers.org/hgnc/4699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163754
  ensembl protein: ENSP00000296048
  ensembl transcript: ENST00000296048
  gene symbol: GYG1
  hgvsc: ENST00000296048.6:c.829-326C>G
  variant of: http://identifiers.org/hgnc/4699
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6082
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3321
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4035
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6512
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2520
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5394
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5147
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2798
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7594
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6036
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1435
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1115
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2051
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1266
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

3-148744223-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148744223
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 148744223
allele count: 5
allele frequency: 4.119226903494752e-5
allele num: 121382
alternate allele: G
canonical: true
consequence: intron
filter: PASS
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 1912
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1298
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42795
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 132
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1849
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1983
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66710
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: 6614
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10320
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.12e-1

FS
type: SiteQuality
SIO_000300: 6.116e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.966e0

MQRankSum
type: SiteQuality
SIO_000300: 2.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.92e1

VQSLOD
type: SiteQuality
SIO_000300: -2.353e-1

QD
type: SiteQuality
SIO_000300: 8.91e0

DP
type: SiteQuality
SIO_000300: 3.797513e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.589e0

GenotypeQuality
all individuals: 1154
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42796
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6943
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1849
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10320
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.49e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 3.954e0

QD
type: SiteQuality
SIO_000300: 1.28e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.518e0

MQRankSum
type: SiteQuality
SIO_000300: -1.907e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

VQSLOD
type: SiteQuality
SIO_000300: -1.131e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.574e0

DP
type: SiteQuality
SIO_000300: 3.797468e6

GenotypeQuality
all individuals: 1298
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2469
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1849
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10298
num of homozygotes: 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: 0
allele frequency: 0.0e0
allele num: 66704
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 1.0922e1

VQSLOD
type: SiteQuality
SIO_000300: -9.954e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.3e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.04e0

QD
type: SiteQuality
SIO_000300: 1.33e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 3.796614e6

MQ
type: SiteQuality
SIO_000300: 5.979e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.55e-1

GenotypeQuality
all individuals: 1293
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42855
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1149
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1908
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66702
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: 906
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10300
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-1

QD
type: SiteQuality
SIO_000300: 1.364e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.73e0

VQSLOD
type: SiteQuality
SIO_000300: 2.41e0

MQRankSum
type: SiteQuality
SIO_000300: 4.99e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.79e-1

DP
type: SiteQuality
SIO_000300: 3.805e6

FS
type: SiteQuality
SIO_000300: 1.238e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

GenotypeQuality
all individuals: 1908
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42855
bin: 9.75e1
variant carriers: 134

GenotypeQuality
all individuals: 6857
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1149
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1978
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66702
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
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: 134
allele frequency: 1.300970873786408e-2
allele num: 10300
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.41e0

DP
type: SiteQuality
SIO_000300: 3.805e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.73e0

MQ
type: SiteQuality
SIO_000300: 5.942e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.99e-1

FS
type: SiteQuality
SIO_000300: 1.238e0

QD
type: SiteQuality
SIO_000300: 1.364e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.79e-1

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

GenotypeQuality
all individuals: 6796
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1847
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42837
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1152
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1979
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

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: 10290
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499385252046661e-5
allele num: 66694
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.283e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.76e-1

MQ
type: SiteQuality
SIO_000300: 5.71e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.138e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.55e0

DP
type: SiteQuality
SIO_000300: 3.797765e6

FS
type: SiteQuality
SIO_000300: 5.002e0

MQRankSum
type: SiteQuality
SIO_000300: -7.2e-1

QD
type: SiteQuality
SIO_000300: 1.737e1

GenotypeQuality
all individuals: 205
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2433
bin: 6.75e1
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GenotypeQuality
all individuals: 1847
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1290
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1910
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1977
bin: 7.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.737098344693281e-5
allele num: 10270
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.997541008186643e-5
allele num: 66694
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: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 3.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.47e0

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

FS
type: SiteQuality
SIO_000300: 1.317e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

MQRankSum
type: SiteQuality
SIO_000300: -6.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.42e-1

DP
type: SiteQuality
SIO_000300: 3.797083e6

QD
type: SiteQuality
SIO_000300: 1.383e1

GenotypeQuality
all individuals: 1971
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1281
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variant carriers: 0

GenotypeQuality
all individuals: 1847
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1152
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42838
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 26
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 2.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499745043342632e-5
allele num: 66678
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.317e0

QD
type: SiteQuality
SIO_000300: 1.477e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.72e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.47e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.263e0

DP
type: SiteQuality
SIO_000300: 3.795694e6

MQ
type: SiteQuality
SIO_000300: 5.945e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.19e-1

GenotypeQuality
all individuals: 1847
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 47
bin: 5.25e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2400
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
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variant carriers: 0

GenotypeQuality
all individuals: 1971
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999400119976005e-5
allele num: 66680
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10244
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -8.118e-1

MQ
type: SiteQuality
SIO_000300: 5.894e1

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e0

FS
type: SiteQuality
SIO_000300: 1.522e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.24e0

QD
type: SiteQuality
SIO_000300: 1.471e1

DP
type: SiteQuality
SIO_000300: 3.795571e6

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6549
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2388
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1908
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1277
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1968
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42839
bin: 9.75e1
variant carriers: 2

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: 66680
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10234
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: 2
allele frequency: 2.31107002542177e-4
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.69e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -8.66e-1

FS
type: SiteQuality
SIO_000300: 8.555999999999999e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

QD
type: SiteQuality
SIO_000300: 1.362e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.402e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.68e0

DP
type: SiteQuality
SIO_000300: 3.794369e6

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 214
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10228
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66678
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -8.63e-1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.793851e6

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.55e0

MQ
type: SiteQuality
SIO_000300: 5.896e1

GenotypeQuality
all individuals: 111
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1963
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 42840
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variant carriers: 1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 4.75e1
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: 1
allele frequency: 1.500240038406145e-5
allele num: 66656
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: 11576
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10188
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.956e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.73e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.05e0

VQSLOD
type: SiteQuality
SIO_000300: 4.9e-1

DP
type: SiteQuality
SIO_000300: 3.79258e6

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

GenotypeQuality
all individuals: 103
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1152
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500240038406145e-5
allele num: 66656
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10174
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: 11576
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -3.14e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.070000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.8e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

QD
type: SiteQuality
SIO_000300: 1.515e1

DP
type: SiteQuality
SIO_000300: 3.79258e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 1.011e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-1

GenotypeQuality
all individuals: 1588
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 562
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 675
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variant carriers: 0

GenotypeQuality
all individuals: 9882
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 1
allele frequency: 1.003009027081244e-4
allele num: 9970
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15682
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6298
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10792
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8042
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63620
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

MQ
type: SiteQuality
SIO_000300: 5.805e1

QD
type: SiteQuality
SIO_000300: 2.561e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.57e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.119e0

MQRankSum
type: SiteQuality
SIO_000300: 1.66e0

DP
type: SiteQuality
SIO_000300: 1.686884e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.4e-1

GenotypeQuality
all individuals: 81
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2486
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 68
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 1728
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5367
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.115458907097015e-5
allele num: 64196
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10932
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10052
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15796
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8152
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6340
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.77334e6

VQSLOD
type: SiteQuality
SIO_000300: 2.04e0

MQ
type: SiteQuality
SIO_000300: 5.574e1

QD
type: SiteQuality
SIO_000300: 1.225e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.09e-1

FS
type: SiteQuality
SIO_000300: 3.24e0

MQRankSum
type: SiteQuality
SIO_000300: -1.408e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.78e-1

GenotypeQuality
all individuals: 1016
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 983
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 661
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2642
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1597
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 701
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2209
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.819324430479184e-5
allele num: 10184
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15988
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11170
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65296
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.91e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.69e0

QD
type: SiteQuality
SIO_000300: 1.467e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-1

MQ
type: SiteQuality
SIO_000300: 5.928e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.43e-1

DP
type: SiteQuality
SIO_000300: 1.843256e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.75e0

GenotypeQuality
all individuals: 711
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5918
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2213
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 732
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30694
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variant carriers: 0

GenotypeQuality
all individuals: 987
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variant carriers: 0

GenotypeQuality
all individuals: 664
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9924
bin: 9.75e1
variant carriers: 3

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.060256449490467e-5
allele num: 65354
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8428
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11178
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6420
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.819324430479184e-5
allele num: 10184
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15998
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.85e0

FS
type: SiteQuality
SIO_000300: 2.026e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.86e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-2

QD
type: SiteQuality
SIO_000300: 1.397e1

VQSLOD
type: SiteQuality
SIO_000300: 2.72e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -8.57e-1

MQ
type: SiteQuality
SIO_000300: 5.99e1

DP
type: SiteQuality
SIO_000300: 1.846678e6

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1180
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32659
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2680
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 989
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2268
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9928
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 739
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6452
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.347417840375587e-4
allele num: 8520
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.042750646584513e-5
allele num: 65730
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16100
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.885729518393461e-5
allele num: 11254
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.285e0

VQSLOD
type: SiteQuality
SIO_000300: 2.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

QD
type: SiteQuality
SIO_000300: 1.338e1

MQRankSum
type: SiteQuality
SIO_000300: 5.17e-1

FS
type: SiteQuality
SIO_000300: 2.435e0

DP
type: SiteQuality
SIO_000300: 1.866778e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.81e-1

GenotypeQuality
all individuals: 2704
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9936
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 342
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33160
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 994
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 745
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 7
allele frequency: 4.337050805452292e-4
allele num: 16140
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.553042950371832e-5
allele num: 65890
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6464
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.773364071643909e-4
allele num: 11278
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10258
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.259e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.68e0

QD
type: SiteQuality
SIO_000300: 1.201e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.36e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.200000000000001e-3

DP
type: SiteQuality
SIO_000300: 1.873662e6

GenotypeQuality
all individuals: 33636
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 756
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
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variant carriers: 0

GenotypeQuality
all individuals: 18
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GenotypeQuality
all individuals: 880
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2748
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variant carriers: 0

GenotypeQuality
all individuals: 2315
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variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6212
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66046
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6486
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.945146858587823e-4
allele num: 10282
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16180
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.4e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.33e0

DP
type: SiteQuality
SIO_000300: 1.879105e6

MQRankSum
type: SiteQuality
SIO_000300: -1.03e-1

FS
type: SiteQuality
SIO_000300: 7.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.33e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

QD
type: SiteQuality
SIO_000300: 1.112e1

GenotypeQuality
all individuals: 2358
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34297
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9993
bin: 9.75e1
variant carriers: 83

GenotypeQuality
all individuals: 6409
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 765
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
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GenotypeQuality
all individuals: 1938
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variant carriers: 0

GenotypeQuality
all individuals: 2830
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 3
allele frequency: 2.622377622377622e-4
allele num: 11440
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.529666887536896e-5
allele num: 66404
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16346
num of homozygotes: 0

African
type: Population
allele count: 74
allele frequency: 7.142857142857143e-3
allele num: 10360
num of homozygotes: 1

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

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.057169061449098e-4
allele num: 6542
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.61e0

MQRankSum
type: SiteQuality
SIO_000300: 3.49e-1

QD
type: SiteQuality
SIO_000300: 1.284e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.162e0

FS
type: SiteQuality
SIO_000300: 1.252e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-2

MQ
type: SiteQuality
SIO_000300: 5.97e1

DP
type: SiteQuality
SIO_000300: 1.899196e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.28e-1

GenotypeQuality
all individuals: 105
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 34283
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
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variant carriers: 0

GenotypeQuality
all individuals: 6419
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1012
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2367
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9941
bin: 9.75e1
variant carriers: 1

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.643201542912247e-5
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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QD
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VQSLOD
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ReadPosRankSum
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MQRankSum
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FS
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SIO_000300: 7.904e0

InbreedingCoeff
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SIO_000300: 1.21e-2

BaseQRankSum
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SIO_000300: 2.46e0

MQ
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e-1

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.505117399157134e-5
allele num: 66440
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 898
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African
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allele frequency: 0.0e0
allele num: 10374
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European (Finnish)
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allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
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VQSLOD
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QD
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MQRankSum
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FS
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DP
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ReadPosRankSum
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InbreedingCoeff
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MQ
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.504619180885318e-5
allele num: 66462
num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
allele num: 6556
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Other
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allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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FS
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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MQ
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QD
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 9
allele frequency: 1.352326000721241e-4
allele num: 66552
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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FS
type: SiteQuality
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VQSLOD
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BaseQRankSum
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SIO_000300: -2.634e0

MQ
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SIO_000300: 5.924e1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.904212e6

MQRankSum
type: SiteQuality
SIO_000300: 4.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.22e-1

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

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16464
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50105073551486e-5
allele num: 66620
num of homozygotes: 0

Other
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allele count: 0
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allele num: 906
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MQRankSum
type: SiteQuality
SIO_000300: 5.88e-1

FS
type: SiteQuality
SIO_000300: 4.815e0

DP
type: SiteQuality
SIO_000300: 1.90683e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.471e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.6e-2

MQ
type: SiteQuality
SIO_000300: 5.896e1

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.92e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

GenotypeQuality
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variant carriers: 0

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

Latino
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allele count: 2
allele frequency: 1.734304543877905e-4
allele num: 11532
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66640
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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Other
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
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VQSLOD
type: SiteQuality
SIO_000300: -3.32e-2

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.908529e6

InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 7.2e-1

ReadPosRankSum
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MQRankSum
type: SiteQuality
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QD
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500105007350515e-5
allele num: 66662
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
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allele num: 8654
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South Asian
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allele frequency: 0.0e0
allele num: 16500
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European (Finnish)
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allele count: 1
allele frequency: 1.514692517418964e-4
allele num: 6602
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ReadPosRankSum
type: SiteQuality
SIO_000300: -2.42e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.938e1

BaseQRankSum
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DP
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 5.81e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele num: 11552
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South Asian
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African
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East Asian
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allele frequency: 1.155535012710885e-4
allele num: 8654
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European (Finnish)
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European (Non-Finnish)
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Other
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BaseQRankSum
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DP
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ReadPosRankSum
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FS
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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VQSLOD
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QD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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European (Finnish)
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African
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Latino
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allele frequency: 8.655011251514626e-5
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66678
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Other
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VQSLOD
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QD
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BaseQRankSum
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FS
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MQ
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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African
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Latino
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European (Non-Finnish)
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Other
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South Asian
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ClippingRankSum
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FS
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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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InbreedingCoeff
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DP
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ReadPosRankSum
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SIO_000300: -8.63e-1

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.99868058054456e-5
allele num: 66696
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6612
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East Asian
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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FS
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BaseQRankSum
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DP
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MQRankSum
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SIO_000300: -3.8e-1

MQ
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SIO_000300: 5.977e1

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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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FS
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ClippingRankSum
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MQRankSum
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MQ
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ReadPosRankSum
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DP
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VQSLOD
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BaseQRankSum
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QD
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SIO_000300: 1.54e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66706
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Other
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allele frequency: 0.0e0
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Latino
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QD
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VQSLOD
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FS
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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DP
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MQ
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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African
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South Asian
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allele num: 16512
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Latino
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European (Non-Finnish)
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allele frequency: 0.0e0
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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MQ
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FS
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DP
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VQSLOD
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MQRankSum
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QD
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BaseQRankSum
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SIO_000300: 6.66e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 num: 908
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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East Asian
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South Asian
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allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.498935755613514e-5
allele num: 66714
num of homozygotes: 0

FS
type: SiteQuality
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InbreedingCoeff
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MQ
type: SiteQuality
SIO_000300: 5.964e1

BaseQRankSum
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ReadPosRankSum
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MQRankSum
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VQSLOD
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DP
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QD
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ClippingRankSum
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SIO_000300: -7.69e-1

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

South Asian
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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

East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (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 (Non-Finnish)
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allele frequency: 8.99415380002998e-5
allele num: 66710
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MQRankSum
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ReadPosRankSum
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QD
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MQ
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BaseQRankSum
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ClippingRankSum
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DP
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InbreedingCoeff
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FS
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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South Asian
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Other
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Latino
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European (Non-Finnish)
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European (Finnish)
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MQRankSum
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ReadPosRankSum
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QD
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BaseQRankSum
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DP
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FS
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

East Asian
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Other
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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African
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Latino
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MQ
type: SiteQuality
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ClippingRankSum
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QD
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FS
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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MQRankSum
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Non-Finnish)
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Latino
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East Asian
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European (Finnish)
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South Asian
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African
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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QD
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MQ
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DP
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MQRankSum
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ReadPosRankSum
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FS
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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European (Finnish)
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Latino
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African
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Other
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European (Non-Finnish)
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allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

MQ
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ReadPosRankSum
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VQSLOD
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MQRankSum
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FS
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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Latino
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allele num: 11558
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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East Asian
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South Asian
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Other
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VQSLOD
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MQRankSum
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FS
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QD
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BaseQRankSum
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MQ
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ReadPosRankSum
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InbreedingCoeff
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

African
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QD
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ReadPosRankSum
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VQSLOD
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MQ
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SIO_000300: 5.945e1

BaseQRankSum
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InbreedingCoeff
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DP
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FS
type: SiteQuality
SIO_000300: 2.934e0

ClippingRankSum
type: SiteQuality
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MQRankSum
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SIO_000300: 7.199999999999999e-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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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
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: 11564
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66718
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East Asian
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Other
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African
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allele num: 10390
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BaseQRankSum
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FS
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SIO_000300: 0.0e0

VQSLOD
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DP
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MQ
type: SiteQuality
SIO_000300: 5.75e1

InbreedingCoeff
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SIO_000300: 1.0e-4

QD
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ReadPosRankSum
type: SiteQuality
SIO_000300: 7.81e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.65e-1

GenotypeQuality
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variant carriers: 0

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

Latino
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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

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

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

InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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VQSLOD
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BaseQRankSum
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QD
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ClippingRankSum
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FS
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 1.21153380179307e-4
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European (Finnish)
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Latino
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African
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European (Non-Finnish)
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East Asian
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DP
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VQSLOD
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FS
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MQRankSum
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InbreedingCoeff
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MQ
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Finnish)
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African
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Latino
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South Asian
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European (Non-Finnish)
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BaseQRankSum
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VQSLOD
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FS
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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DP
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ClippingRankSum
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MQ
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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African
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South Asian
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European (Non-Finnish)
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MQ
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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QD
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MQRankSum
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InbreedingCoeff
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VQSLOD
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FS
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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African
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European (Non-Finnish)
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European (Finnish)
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MQ
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BaseQRankSum
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QD
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ClippingRankSum
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VQSLOD
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MQRankSum
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DP
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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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variant carriers: 0

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

GenotypeQuality
all individuals: 1020
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9956
bin: 9.75e1
variant carriers: 2

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
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

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: 11564
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: 1.499115521842113e-5
allele num: 66706
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.912713e6

MQRankSum
type: SiteQuality
SIO_000300: 1.62e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e0

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.71e0

MQ
type: SiteQuality
SIO_000300: 5.81e1

FS
type: SiteQuality
SIO_000300: 2.911e0

QD
type: SiteQuality
SIO_000300: 1.831e1

GenotypeQuality
all individuals: 2865
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 34929
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9984
bin: 9.75e1
variant carriers: 43

GenotypeQuality
all individuals: 2403
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 774
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6584
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 5
allele frequency: 4.323015735777278e-4
allele num: 11566
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.028834504482675e-4
allele num: 16508
num of homozygotes: 0

East Asian
type: Population
allele count: 7
allele frequency: 8.088745088976196e-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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 8.994423457456377e-5
allele num: 66708
num of homozygotes: 0

African
type: Population
allele count: 20
allele frequency: 1.925298421255295e-3
allele num: 10388
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.91636e6

MQRankSum
type: SiteQuality
SIO_000300: -1.558e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.400000000000001e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.97e0

QD
type: SiteQuality
SIO_000300: 1.191e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.08e-1

MQ
type: SiteQuality
SIO_000300: 5.663e1

VQSLOD
type: SiteQuality
SIO_000300: -3.625e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

GenotypeQuality
all individuals: 1965
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2404
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2866
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 776
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34933
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.61e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.218e0

VQSLOD
type: SiteQuality
SIO_000300: 1.7e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.94e-1

DP
type: SiteQuality
SIO_000300: 1.912793e6

MQRankSum
type: SiteQuality
SIO_000300: -3.98e-1

FS
type: SiteQuality
SIO_000300: 3.741e0

QD
type: SiteQuality
SIO_000300: 1.076e1

MQ
type: SiteQuality
SIO_000300: 5.965e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2866
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9952
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 34949
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2405
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1966
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: 1
allele frequency: 1.49907057624273e-5
allele num: 66708
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
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: 11564
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

MQRankSum
type: SiteQuality
SIO_000300: -1.385e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.36e0

FS
type: SiteQuality
SIO_000300: 3.454e0

QD
type: SiteQuality
SIO_000300: 1.171e1

MQ
type: SiteQuality
SIO_000300: 5.951e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e-2

DP
type: SiteQuality
SIO_000300: 1.912628e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.51e-1

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

GenotypeQuality
all individuals: 2869
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1023
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6577
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1966
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2405
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.997181324777355e-5
allele num: 66698
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: 6612
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
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: 1.134e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.330000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.912855e6

QD
type: SiteQuality
SIO_000300: 1.301e1

MQRankSum
type: SiteQuality
SIO_000300: 1.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

MQ
type: SiteQuality
SIO_000300: 5.924e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.53e-1

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

GenotypeQuality
all individuals: 2869
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1966
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9952
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1023
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
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: 16504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66700
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
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: 1.912504e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 8.44e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.37e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.305e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.19e0

QD
type: SiteQuality
SIO_000300: 1.403e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.82e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.547e0

GenotypeQuality
all individuals: 774
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9952
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 6574
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2870
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34943
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49947518368571e-5
allele num: 66690
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: 11560
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
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: 10390
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.926e1

FS
type: SiteQuality
SIO_000300: 7.17e-1

DP
type: SiteQuality
SIO_000300: 1.912331e6

VQSLOD
type: SiteQuality
SIO_000300: 1.31e0

MQRankSum
type: SiteQuality
SIO_000300: 1.3e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.209e0

QD
type: SiteQuality
SIO_000300: 1.197e1

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1023
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9952
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2869
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34947
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 774
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66686
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: 11560
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.412e1

MQRankSum
type: SiteQuality
SIO_000300: 2.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.13e-1

FS
type: SiteQuality
SIO_000300: 9.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.795e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.24e0

DP
type: SiteQuality
SIO_000300: 1.91228e6

MQ
type: SiteQuality
SIO_000300: 5.976e1

VQSLOD
type: SiteQuality
SIO_000300: 3.25e0

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

GenotypeQuality
all individuals: 1963
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1022
bin: 9.25e1
variant carriers: 0

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

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

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: 11552
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.659969088098918e-5
allele num: 10352
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: 66626
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.088e0

DP
type: SiteQuality
SIO_000300: 1.908553e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.15e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.092000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.89e-1

MQ
type: SiteQuality
SIO_000300: 5.317e1

FS
type: SiteQuality
SIO_000300: 1.624e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.994e0

QD
type: SiteQuality
SIO_000300: 1.544e1

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9954
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 82
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 5.78168362627197e-4
allele num: 8648
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66566
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10326
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: 6606
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.972e1

DP
type: SiteQuality
SIO_000300: 1.905875e6

FS
type: SiteQuality
SIO_000300: 1.484e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.14e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.32e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.1e0

MQRankSum
type: SiteQuality
SIO_000300: 1.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.842e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.225e1

GenotypeQuality
all individuals: 2395
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 772
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2857
bin: 7.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66534
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.703085581214826e-5
allele num: 10306
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
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: 6604
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.28e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.647e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.15e0

DP
type: SiteQuality
SIO_000300: 1.903615e6

MQRankSum
type: SiteQuality
SIO_000300: 1.81e-1

GenotypeQuality
all individuals: 64
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.777082518576456e-5
allele num: 10228
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66434
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 5.26e0

QD
type: SiteQuality
SIO_000300: 1.417e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.72e-1

FS
type: SiteQuality
SIO_000300: 6.597e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.25e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.898294e6

GenotypeQuality
all individuals: 5691
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2802
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2324
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.047758373716132e-5
allele num: 65622
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 5.921364282330649e-4
allele num: 8444
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9696
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16454
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.116e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.043e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

DP
type: SiteQuality
SIO_000300: 1.828652e6

VQSLOD
type: SiteQuality
SIO_000300: 2.56e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.68e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.32e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

QD
type: SiteQuality
SIO_000300: 8.35e0

GenotypeQuality
all individuals: 2327
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1026
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8388
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9670
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 19
allele frequency: 1.154313487241798e-3
allele num: 16460
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65380
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.84e0

FS
type: SiteQuality
SIO_000300: 1.183e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.55e-1

DP
type: SiteQuality
SIO_000300: 1.832447e6

MQ
type: SiteQuality
SIO_000300: 5.62e1

MQRankSum
type: SiteQuality
SIO_000300: -1.429e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.87e-1

QD
type: SiteQuality
SIO_000300: 1.765e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.97e-1

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

GenotypeQuality
all individuals: 825
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1494
bin: 6.25e1
variant carriers: 0

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

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

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

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

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

East Asian
type: Population
allele count: 2
allele frequency: 2.311604253351826e-4
allele num: 8652
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: -7.8e-2

QD
type: SiteQuality
SIO_000300: 1.439e1

VQSLOD
type: SiteQuality
SIO_000300: 4.81e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.389999999999999e-1

DP
type: SiteQuality
SIO_000300: 4.043428e6

MQRankSum
type: SiteQuality
SIO_000300: 3.84e-1

GenotypeQuality
all individuals: 20
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1430
bin: 7.75e1
variant carriers: 0

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

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

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

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

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: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.19e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

MQRankSum
type: SiteQuality
SIO_000300: -9.69e-1

DP
type: SiteQuality
SIO_000300: 4.043968e6

MQ
type: SiteQuality
SIO_000300: 5.983e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.55e0

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1111
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 4
allele frequency: 3.461405330564209e-4
allele num: 11556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 103
allele frequency: 1.544042693530011e-3
allele num: 66708
num of homozygotes: 1

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

African
type: Population
allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.28e-2

MQ
type: SiteQuality
SIO_000300: 5.979e1

VQSLOD
type: SiteQuality
SIO_000300: 5.79e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.49e-1

QD
type: SiteQuality
SIO_000300: 1.464e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.25e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.7e-2

DP
type: SiteQuality
SIO_000300: 4.045197e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.78e-1

GenotypeQuality
all individuals: 1591
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1687
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

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

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

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.107e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.789e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

VQSLOD
type: SiteQuality
SIO_000300: 9.47e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.900000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 1.363e0

DP
type: SiteQuality
SIO_000300: 4.044031e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.403e0

GenotypeQuality
all individuals: 2050
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15
bin: 3.25e1
variant carriers: 0

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

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

European (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: 10402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
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: 11560
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.044104e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -8.59e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.07e0

FS
type: SiteQuality
SIO_000300: 7.675e0

MQRankSum
type: SiteQuality
SIO_000300: -6.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.39e-1

QD
type: SiteQuality
SIO_000300: 1.451e1

GenotypeQuality
all individuals: 1594
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 50640
bin: 9.75e1
variant carriers: 1

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: 10402
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: 16510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -8.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.981e1

VQSLOD
type: SiteQuality
SIO_000300: 2.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.090000000000001e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.141e0

DP
type: SiteQuality
SIO_000300: 4.044274e6

QD
type: SiteQuality
SIO_000300: 7.39e0

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

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

GenotypeQuality
all individuals: 828
bin: 7.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 8.991188635137565e-5
allele num: 66732
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: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.02e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.76e-1

DP
type: SiteQuality
SIO_000300: 4.044549e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.91e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.983e0

QD
type: SiteQuality
SIO_000300: 1.29e1

GenotypeQuality
all individuals: 1722
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50639
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1590
bin: 8.25e1
variant carriers: 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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
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: 10402
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
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: -2.48e-1

DP
type: SiteQuality
SIO_000300: 4.044206e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.06e0

MQRankSum
type: SiteQuality
SIO_000300: 7.18e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.322e-1

FS
type: SiteQuality
SIO_000300: 1.749e0

QD
type: SiteQuality
SIO_000300: 1.56e1

MQ
type: SiteQuality
SIO_000300: 5.977e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.49e0