3-20225347-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20225347
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 20225347
    reference: chr 3
allele count: 1
allele frequency: 8.260503229856763e-6
allele num: 121058
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394625
  ensembl transcript: ENST00000419233
  gene symbol: SGOL1
  hgvsc: ENST00000419233.2:c.142+31C>T
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414960
  ensembl transcript: ENST00000425061
  gene symbol: SGOL1
  hgvsc: ENST00000425061.1:c.142+31C>T
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394957
  ensembl transcript: ENST00000442720
  gene symbol: SGOL1
  hgvsc: ENST00000442720.1:c.142+31C>T
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000306581
  ensembl transcript: ENST00000306698
  gene symbol: SGOL1
  hgvsc: ENST00000306698.2:c.142+31C>T
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000441442
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000441442.1:n.359-2120G>A
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000406880
  ensembl transcript: ENST00000412868
  gene symbol: SGOL1
  hgvsc: ENST00000412868.1:c.142+31C>T
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000373284
  ensembl transcript: ENST00000383774
  gene symbol: SGOL1
  hgvsc: ENST00000383774.1:c.142+31C>T
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000389034
  ensembl transcript: ENST00000437051
  gene symbol: SGOL1
  hgvsc: ENST00000437051.1:c.142+31C>T
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000411200
  ensembl transcript: ENST00000452020
  gene symbol: SGOL1
  hgvsc: ENST00000452020.1:c.142+31C>T
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414129
  ensembl transcript: ENST00000421451
  gene symbol: SGOL1
  hgvsc: ENST00000421451.1:c.142+31C>T
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000448208
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000448208.1:n.367-2120G>A
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000410458
  ensembl transcript: ENST00000412997
  gene symbol: SGOL1
  hgvsc: ENST00000412997.1:c.142+31C>T
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000404562
  ensembl transcript: ENST00000429446
  gene symbol: SGOL1
  hgvsc: ENST00000429446.3:c.142+31C>T
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000397672
  ensembl transcript: ENST00000456624
  gene symbol: SGOL1
  hgvsc: ENST00000456624.1:c.142+31C>T
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000413070
  ensembl transcript: ENST00000443724
  gene symbol: SGOL1
  hgvsc: ENST00000443724.1:c.142+31C>T
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000263753
  ensembl transcript: ENST00000263753
  gene symbol: SGOL1
  hgvsc: ENST00000263753.4:c.142+31C>T
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394613
  ensembl transcript: ENST00000417364
  gene symbol: SGOL1
  hgvsc: ENST00000417364.1:c.142+31C>T
  variant of: http://identifiers.org/hgnc/25088
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13992
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum

3-20225349-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20225349
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 20225349
    reference: chr 3
allele count: 1
allele frequency: 8.259411599517651e-6
allele num: 121074
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414960
  ensembl transcript: ENST00000425061
  gene symbol: SGOL1
  hgvsc: ENST00000425061.1:c.142+29A>G
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000441442
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000441442.1:n.359-2118T>C
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000448208
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000448208.1:n.367-2118T>C
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000263753
  ensembl transcript: ENST00000263753
  gene symbol: SGOL1
  hgvsc: ENST00000263753.4:c.142+29A>G
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000411200
  ensembl transcript: ENST00000452020
  gene symbol: SGOL1
  hgvsc: ENST00000452020.1:c.142+29A>G
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394625
  ensembl transcript: ENST00000419233
  gene symbol: SGOL1
  hgvsc: ENST00000419233.2:c.142+29A>G
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000373284
  ensembl transcript: ENST00000383774
  gene symbol: SGOL1
  hgvsc: ENST00000383774.1:c.142+29A>G
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000306581
  ensembl transcript: ENST00000306698
  gene symbol: SGOL1
  hgvsc: ENST00000306698.2:c.142+29A>G
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394613
  ensembl transcript: ENST00000417364
  gene symbol: SGOL1
  hgvsc: ENST00000417364.1:c.142+29A>G
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414129
  ensembl transcript: ENST00000421451
  gene symbol: SGOL1
  hgvsc: ENST00000421451.1:c.142+29A>G
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000389034
  ensembl transcript: ENST00000437051
  gene symbol: SGOL1
  hgvsc: ENST00000437051.1:c.142+29A>G
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394957
  ensembl transcript: ENST00000442720
  gene symbol: SGOL1
  hgvsc: ENST00000442720.1:c.142+29A>G
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000413070
  ensembl transcript: ENST00000443724
  gene symbol: SGOL1
  hgvsc: ENST00000443724.1:c.142+29A>G
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000404562
  ensembl transcript: ENST00000429446
  gene symbol: SGOL1
  hgvsc: ENST00000429446.3:c.142+29A>G
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000397672
  ensembl transcript: ENST00000456624
  gene symbol: SGOL1
  hgvsc: ENST00000456624.1:c.142+29A>G
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000406880
  ensembl transcript: ENST00000412868
  gene symbol: SGOL1
  hgvsc: ENST00000412868.1:c.142+29A>G
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000410458
  ensembl transcript: ENST00000412997
  gene symbol: SGOL1
  hgvsc: ENST00000412997.1:c.142+29A>G
  variant of: http://identifiers.org/hgnc/25088
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4926
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2478
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

3-20225351-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20225351
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 20225351
    reference: chr 3
allele count: 1
allele frequency: 8.257911078813503e-6
allele num: 121096
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000389034
  ensembl transcript: ENST00000437051
  gene symbol: SGOL1
  hgvsc: ENST00000437051.1:c.142+27A>T
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000413070
  ensembl transcript: ENST00000443724
  gene symbol: SGOL1
  hgvsc: ENST00000443724.1:c.142+27A>T
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000448208
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000448208.1:n.367-2116T>A
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000263753
  ensembl transcript: ENST00000263753
  gene symbol: SGOL1
  hgvsc: ENST00000263753.4:c.142+27A>T
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414960
  ensembl transcript: ENST00000425061
  gene symbol: SGOL1
  hgvsc: ENST00000425061.1:c.142+27A>T
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394625
  ensembl transcript: ENST00000419233
  gene symbol: SGOL1
  hgvsc: ENST00000419233.2:c.142+27A>T
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000441442
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000441442.1:n.359-2116T>A
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000397672
  ensembl transcript: ENST00000456624
  gene symbol: SGOL1
  hgvsc: ENST00000456624.1:c.142+27A>T
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414129
  ensembl transcript: ENST00000421451
  gene symbol: SGOL1
  hgvsc: ENST00000421451.1:c.142+27A>T
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000411200
  ensembl transcript: ENST00000452020
  gene symbol: SGOL1
  hgvsc: ENST00000452020.1:c.142+27A>T
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000306581
  ensembl transcript: ENST00000306698
  gene symbol: SGOL1
  hgvsc: ENST00000306698.2:c.142+27A>T
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000404562
  ensembl transcript: ENST00000429446
  gene symbol: SGOL1
  hgvsc: ENST00000429446.3:c.142+27A>T
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394957
  ensembl transcript: ENST00000442720
  gene symbol: SGOL1
  hgvsc: ENST00000442720.1:c.142+27A>T
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394613
  ensembl transcript: ENST00000417364
  gene symbol: SGOL1
  hgvsc: ENST00000417364.1:c.142+27A>T
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000373284
  ensembl transcript: ENST00000383774
  gene symbol: SGOL1
  hgvsc: ENST00000383774.1:c.142+27A>T
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000410458
  ensembl transcript: ENST00000412997
  gene symbol: SGOL1
  hgvsc: ENST00000412997.1:c.142+27A>T
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000406880
  ensembl transcript: ENST00000412868
  gene symbol: SGOL1
  hgvsc: ENST00000412868.1:c.142+27A>T
  variant of: http://identifiers.org/hgnc/25088
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2478
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4923
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10998
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

3-20225362-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20225362
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 20225362
    reference: chr 3
allele count: 4
allele frequency: 3.300057751010643e-5
allele num: 121210
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000397672
  ensembl transcript: ENST00000456624
  gene symbol: SGOL1
  hgvsc: ENST00000456624.1:c.142+16G>A
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414960
  ensembl transcript: ENST00000425061
  gene symbol: SGOL1
  hgvsc: ENST00000425061.1:c.142+16G>A
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394625
  ensembl transcript: ENST00000419233
  gene symbol: SGOL1
  hgvsc: ENST00000419233.2:c.142+16G>A
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000441442
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000441442.1:n.359-2105C>T
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000406880
  ensembl transcript: ENST00000412868
  gene symbol: SGOL1
  hgvsc: ENST00000412868.1:c.142+16G>A
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000373284
  ensembl transcript: ENST00000383774
  gene symbol: SGOL1
  hgvsc: ENST00000383774.1:c.142+16G>A
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000389034
  ensembl transcript: ENST00000437051
  gene symbol: SGOL1
  hgvsc: ENST00000437051.1:c.142+16G>A
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000448208
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000448208.1:n.367-2105C>T
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000404562
  ensembl transcript: ENST00000429446
  gene symbol: SGOL1
  hgvsc: ENST00000429446.3:c.142+16G>A
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000306581
  ensembl transcript: ENST00000306698
  gene symbol: SGOL1
  hgvsc: ENST00000306698.2:c.142+16G>A
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000413070
  ensembl transcript: ENST00000443724
  gene symbol: SGOL1
  hgvsc: ENST00000443724.1:c.142+16G>A
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000263753
  ensembl transcript: ENST00000263753
  gene symbol: SGOL1
  hgvsc: ENST00000263753.4:c.142+16G>A
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000411200
  ensembl transcript: ENST00000452020
  gene symbol: SGOL1
  hgvsc: ENST00000452020.1:c.142+16G>A
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394957
  ensembl transcript: ENST00000442720
  gene symbol: SGOL1
  hgvsc: ENST00000442720.1:c.142+16G>A
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414129
  ensembl transcript: ENST00000421451
  gene symbol: SGOL1
  hgvsc: ENST00000421451.1:c.142+16G>A
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000410458
  ensembl transcript: ENST00000412997
  gene symbol: SGOL1
  hgvsc: ENST00000412997.1:c.142+16G>A
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394613
  ensembl transcript: ENST00000417364
  gene symbol: SGOL1
  hgvsc: ENST00000417364.1:c.142+16G>A
  variant of: http://identifiers.org/hgnc/25088
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4925
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14013
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23229
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2478
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11086
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/3-20225366-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20225366
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 20225366
    reference: chr 3
allele count: 6
allele frequency: 4.949514947535141e-5
allele num: 121224
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000404562
  ensembl transcript: ENST00000429446
  gene symbol: SGOL1
  hgvsc: ENST00000429446.3:c.142+12T>G
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000373284
  ensembl transcript: ENST00000383774
  gene symbol: SGOL1
  hgvsc: ENST00000383774.1:c.142+12T>G
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394625
  ensembl transcript: ENST00000419233
  gene symbol: SGOL1
  hgvsc: ENST00000419233.2:c.142+12T>G
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394613
  ensembl transcript: ENST00000417364
  gene symbol: SGOL1
  hgvsc: ENST00000417364.1:c.142+12T>G
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000441442
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000441442.1:n.359-2101A>C
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414960
  ensembl transcript: ENST00000425061
  gene symbol: SGOL1
  hgvsc: ENST00000425061.1:c.142+12T>G
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000406880
  ensembl transcript: ENST00000412868
  gene symbol: SGOL1
  hgvsc: ENST00000412868.1:c.142+12T>G
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414129
  ensembl transcript: ENST00000421451
  gene symbol: SGOL1
  hgvsc: ENST00000421451.1:c.142+12T>G
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000413070
  ensembl transcript: ENST00000443724
  gene symbol: SGOL1
  hgvsc: ENST00000443724.1:c.142+12T>G
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000389034
  ensembl transcript: ENST00000437051
  gene symbol: SGOL1
  hgvsc: ENST00000437051.1:c.142+12T>G
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000411200
  ensembl transcript: ENST00000452020
  gene symbol: SGOL1
  hgvsc: ENST00000452020.1:c.142+12T>G
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000263753
  ensembl transcript: ENST00000263753
  gene symbol: SGOL1
  hgvsc: ENST00000263753.4:c.142+12T>G
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394957
  ensembl transcript: ENST00000442720
  gene symbol: SGOL1
  hgvsc: ENST00000442720.1:c.142+12T>G
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000448208
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000448208.1:n.367-2101A>C
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000306581
  ensembl transcript: ENST00000306698
  gene symbol: SGOL1
  hgvsc: ENST00000306698.2:c.142+12T>G
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000410458
  ensembl transcript: ENST00000412997
  gene symbol: SGOL1
  hgvsc: ENST00000412997.1:c.142+12T>G
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000397672
  ensembl transcript: ENST00000456624
  gene symbol: SGOL1
  hgvsc: ENST00000456624.1:c.142+12T>G
  variant of: http://identifiers.org/hgnc/25088
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11092
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

3-20225369-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20225369
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 20225369
    reference: chr 3
allele count: 1
allele frequency: 8.248102936324645e-6
allele num: 121240
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394625
  ensembl transcript: ENST00000419233
  gene symbol: SGOL1
  hgvsc: ENST00000419233.2:c.142+9T>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000373284
  ensembl transcript: ENST00000383774
  gene symbol: SGOL1
  hgvsc: ENST00000383774.1:c.142+9T>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000397672
  ensembl transcript: ENST00000456624
  gene symbol: SGOL1
  hgvsc: ENST00000456624.1:c.142+9T>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000410458
  ensembl transcript: ENST00000412997
  gene symbol: SGOL1
  hgvsc: ENST00000412997.1:c.142+9T>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414129
  ensembl transcript: ENST00000421451
  gene symbol: SGOL1
  hgvsc: ENST00000421451.1:c.142+9T>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394613
  ensembl transcript: ENST00000417364
  gene symbol: SGOL1
  hgvsc: ENST00000417364.1:c.142+9T>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000389034
  ensembl transcript: ENST00000437051
  gene symbol: SGOL1
  hgvsc: ENST00000437051.1:c.142+9T>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000413070
  ensembl transcript: ENST00000443724
  gene symbol: SGOL1
  hgvsc: ENST00000443724.1:c.142+9T>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000306581
  ensembl transcript: ENST00000306698
  gene symbol: SGOL1
  hgvsc: ENST00000306698.2:c.142+9T>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000404562
  ensembl transcript: ENST00000429446
  gene symbol: SGOL1
  hgvsc: ENST00000429446.3:c.142+9T>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000263753
  ensembl transcript: ENST00000263753
  gene symbol: SGOL1
  hgvsc: ENST00000263753.4:c.142+9T>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000441442
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000441442.1:n.359-2098A>G
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000406880
  ensembl transcript: ENST00000412868
  gene symbol: SGOL1
  hgvsc: ENST00000412868.1:c.142+9T>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000448208
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000448208.1:n.367-2098A>G
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394957
  ensembl transcript: ENST00000442720
  gene symbol: SGOL1
  hgvsc: ENST00000442720.1:c.142+9T>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414960
  ensembl transcript: ENST00000425061
  gene symbol: SGOL1
  hgvsc: ENST00000425061.1:c.142+9T>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000411200
  ensembl transcript: ENST00000452020
  gene symbol: SGOL1
  hgvsc: ENST00000452020.1:c.142+9T>C
  variant of: http://identifiers.org/hgnc/25088
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14017
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23251
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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: A
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

3-20225369-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20225369
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 20225369
    reference: chr 3
allele count: 1
allele frequency: 8.248102936324645e-6
allele num: 121240
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000411200
  ensembl transcript: ENST00000452020
  gene symbol: SGOL1
  hgvsc: ENST00000452020.1:c.142+9T>A
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000406880
  ensembl transcript: ENST00000412868
  gene symbol: SGOL1
  hgvsc: ENST00000412868.1:c.142+9T>A
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394625
  ensembl transcript: ENST00000419233
  gene symbol: SGOL1
  hgvsc: ENST00000419233.2:c.142+9T>A
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000397672
  ensembl transcript: ENST00000456624
  gene symbol: SGOL1
  hgvsc: ENST00000456624.1:c.142+9T>A
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000263753
  ensembl transcript: ENST00000263753
  gene symbol: SGOL1
  hgvsc: ENST00000263753.4:c.142+9T>A
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000448208
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000448208.1:n.367-2098A>T
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394957
  ensembl transcript: ENST00000442720
  gene symbol: SGOL1
  hgvsc: ENST00000442720.1:c.142+9T>A
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000306581
  ensembl transcript: ENST00000306698
  gene symbol: SGOL1
  hgvsc: ENST00000306698.2:c.142+9T>A
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414129
  ensembl transcript: ENST00000421451
  gene symbol: SGOL1
  hgvsc: ENST00000421451.1:c.142+9T>A
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414960
  ensembl transcript: ENST00000425061
  gene symbol: SGOL1
  hgvsc: ENST00000425061.1:c.142+9T>A
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000389034
  ensembl transcript: ENST00000437051
  gene symbol: SGOL1
  hgvsc: ENST00000437051.1:c.142+9T>A
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000404562
  ensembl transcript: ENST00000429446
  gene symbol: SGOL1
  hgvsc: ENST00000429446.3:c.142+9T>A
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394613
  ensembl transcript: ENST00000417364
  gene symbol: SGOL1
  hgvsc: ENST00000417364.1:c.142+9T>A
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000441442
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000441442.1:n.359-2098A>T
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000373284
  ensembl transcript: ENST00000383774
  gene symbol: SGOL1
  hgvsc: ENST00000383774.1:c.142+9T>A
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000413070
  ensembl transcript: ENST00000443724
  gene symbol: SGOL1
  hgvsc: ENST00000443724.1:c.142+9T>A
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000410458
  ensembl transcript: ENST00000412997
  gene symbol: SGOL1
  hgvsc: ENST00000412997.1:c.142+9T>A
  variant of: http://identifiers.org/hgnc/25088
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4922
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11106
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

3-20225373-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20225373
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 20225373
    reference: chr 3
allele count: 3
allele frequency: 2.474349246148263e-5
allele num: 121244
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000389034
  ensembl transcript: ENST00000437051
  gene symbol: SGOL1
  hgvsc: ENST00000437051.1:c.142+5G>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000413070
  ensembl transcript: ENST00000443724
  gene symbol: SGOL1
  hgvsc: ENST00000443724.1:c.142+5G>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000410458
  ensembl transcript: ENST00000412997
  gene symbol: SGOL1
  hgvsc: ENST00000412997.1:c.142+5G>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394625
  ensembl transcript: ENST00000419233
  gene symbol: SGOL1
  hgvsc: ENST00000419233.2:c.142+5G>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000404562
  ensembl transcript: ENST00000429446
  gene symbol: SGOL1
  hgvsc: ENST00000429446.3:c.142+5G>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000263753
  ensembl transcript: ENST00000263753
  gene symbol: SGOL1
  hgvsc: ENST00000263753.4:c.142+5G>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000406880
  ensembl transcript: ENST00000412868
  gene symbol: SGOL1
  hgvsc: ENST00000412868.1:c.142+5G>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000397672
  ensembl transcript: ENST00000456624
  gene symbol: SGOL1
  hgvsc: ENST00000456624.1:c.142+5G>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394613
  ensembl transcript: ENST00000417364
  gene symbol: SGOL1
  hgvsc: ENST00000417364.1:c.142+5G>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394957
  ensembl transcript: ENST00000442720
  gene symbol: SGOL1
  hgvsc: ENST00000442720.1:c.142+5G>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000411200
  ensembl transcript: ENST00000452020
  gene symbol: SGOL1
  hgvsc: ENST00000452020.1:c.142+5G>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000373284
  ensembl transcript: ENST00000383774
  gene symbol: SGOL1
  hgvsc: ENST00000383774.1:c.142+5G>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000306581
  ensembl transcript: ENST00000306698
  gene symbol: SGOL1
  hgvsc: ENST00000306698.2:c.142+5G>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414960
  ensembl transcript: ENST00000425061
  gene symbol: SGOL1
  hgvsc: ENST00000425061.1:c.142+5G>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000441442
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000441442.1:n.359-2094C>G
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414129
  ensembl transcript: ENST00000421451
  gene symbol: SGOL1
  hgvsc: ENST00000421451.1:c.142+5G>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000448208
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000448208.1:n.367-2094C>G
  variant of: http://identifiers.org/hgnc/41081
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14024
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2477
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.142+5G>C
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

3-20225378-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20225378
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 20225378
    reference: chr 3
allele count: 1
allele frequency: 8.247286642694553e-6
allele num: 121252
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414960
  ensembl transcript: ENST00000425061
  gene symbol: SGOL1
  hgvsc: ENST00000425061.1:c.142A>G
  hgvsp: ENSP00000414960.1:p.Thr48Ala
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000413070
  ensembl transcript: ENST00000443724
  gene symbol: SGOL1
  hgvsc: ENST00000443724.1:c.142A>G
  hgvsp: ENSP00000413070.1:p.Thr48Ala
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000441442
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000441442.1:n.359-2089T>C
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000406880
  ensembl transcript: ENST00000412868
  gene symbol: SGOL1
  hgvsc: ENST00000412868.1:c.142A>G
  hgvsp: ENSP00000406880.1:p.Thr48Ala
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000448208
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000448208.1:n.367-2089T>C
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000397672
  ensembl transcript: ENST00000456624
  gene symbol: SGOL1
  hgvsc: ENST00000456624.1:c.142A>G
  hgvsp: ENSP00000397672.1:p.Thr48Ala
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000389034
  ensembl transcript: ENST00000437051
  gene symbol: SGOL1
  hgvsc: ENST00000437051.1:c.142A>G
  hgvsp: ENSP00000389034.1:p.Thr48Ala
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414129
  ensembl transcript: ENST00000421451
  gene symbol: SGOL1
  hgvsc: ENST00000421451.1:c.142A>G
  hgvsp: ENSP00000414129.1:p.Thr48Ala
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000306581
  ensembl transcript: ENST00000306698
  gene symbol: SGOL1
  hgvsc: ENST00000306698.2:c.142A>G
  hgvsp: ENSP00000306581.2:p.Thr48Ala
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394625
  ensembl transcript: ENST00000419233
  gene symbol: SGOL1
  hgvsc: ENST00000419233.2:c.142A>G
  hgvsp: ENSP00000394625.2:p.Thr48Ala
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394613
  ensembl transcript: ENST00000417364
  gene symbol: SGOL1
  hgvsc: ENST00000417364.1:c.142A>G
  hgvsp: ENSP00000394613.1:p.Thr48Ala
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000410458
  ensembl transcript: ENST00000412997
  gene symbol: SGOL1
  hgvsc: ENST00000412997.1:c.142A>G
  hgvsp: ENSP00000410458.1:p.Thr48Ala
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394957
  ensembl transcript: ENST00000442720
  gene symbol: SGOL1
  hgvsc: ENST00000442720.1:c.142A>G
  hgvsp: ENSP00000394957.1:p.Thr48Ala
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000373284
  ensembl transcript: ENST00000383774
  gene symbol: SGOL1
  hgvsc: ENST00000383774.1:c.142A>G
  hgvsp: ENSP00000373284.1:p.Thr48Ala
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000404562
  ensembl transcript: ENST00000429446
  gene symbol: SGOL1
  hgvsc: ENST00000429446.3:c.142A>G
  hgvsp: ENSP00000404562.3:p.Thr48Ala
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000263753
  ensembl transcript: ENST00000263753
  gene symbol: SGOL1
  hgvsc: ENST00000263753.4:c.142A>G
  hgvsp: ENSP00000263753.4:p.Thr48Ala
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000411200
  ensembl transcript: ENST00000452020
  gene symbol: SGOL1
  hgvsc: ENST00000452020.1:c.142A>G
  hgvsp: ENSP00000411200.1:p.Thr48Ala
  variant of: http://identifiers.org/hgnc/25088
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr48Ala
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP

3-20225383-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20225383
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 20225383
    reference: chr 3
allele count: 1
allele frequency: 8.246062505153789e-6
allele num: 121270
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000411200
  ensembl transcript: ENST00000452020
  gene symbol: SGOL1
  hgvsc: ENST00000452020.1:c.137T>C
  hgvsp: ENSP00000411200.1:p.Ile46Thr
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414960
  ensembl transcript: ENST00000425061
  gene symbol: SGOL1
  hgvsc: ENST00000425061.1:c.137T>C
  hgvsp: ENSP00000414960.1:p.Ile46Thr
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394625
  ensembl transcript: ENST00000419233
  gene symbol: SGOL1
  hgvsc: ENST00000419233.2:c.137T>C
  hgvsp: ENSP00000394625.2:p.Ile46Thr
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000404562
  ensembl transcript: ENST00000429446
  gene symbol: SGOL1
  hgvsc: ENST00000429446.3:c.137T>C
  hgvsp: ENSP00000404562.3:p.Ile46Thr
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000373284
  ensembl transcript: ENST00000383774
  gene symbol: SGOL1
  hgvsc: ENST00000383774.1:c.137T>C
  hgvsp: ENSP00000373284.1:p.Ile46Thr
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394613
  ensembl transcript: ENST00000417364
  gene symbol: SGOL1
  hgvsc: ENST00000417364.1:c.137T>C
  hgvsp: ENSP00000394613.1:p.Ile46Thr
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414129
  ensembl transcript: ENST00000421451
  gene symbol: SGOL1
  hgvsc: ENST00000421451.1:c.137T>C
  hgvsp: ENSP00000414129.1:p.Ile46Thr
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000397672
  ensembl transcript: ENST00000456624
  gene symbol: SGOL1
  hgvsc: ENST00000456624.1:c.137T>C
  hgvsp: ENSP00000397672.1:p.Ile46Thr
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000389034
  ensembl transcript: ENST00000437051
  gene symbol: SGOL1
  hgvsc: ENST00000437051.1:c.137T>C
  hgvsp: ENSP00000389034.1:p.Ile46Thr
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000406880
  ensembl transcript: ENST00000412868
  gene symbol: SGOL1
  hgvsc: ENST00000412868.1:c.137T>C
  hgvsp: ENSP00000406880.1:p.Ile46Thr
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000306581
  ensembl transcript: ENST00000306698
  gene symbol: SGOL1
  hgvsc: ENST00000306698.2:c.137T>C
  hgvsp: ENSP00000306581.2:p.Ile46Thr
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000448208
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000448208.1:n.367-2084A>G
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000413070
  ensembl transcript: ENST00000443724
  gene symbol: SGOL1
  hgvsc: ENST00000443724.1:c.137T>C
  hgvsp: ENSP00000413070.1:p.Ile46Thr
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000441442
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000441442.1:n.359-2084A>G
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394957
  ensembl transcript: ENST00000442720
  gene symbol: SGOL1
  hgvsc: ENST00000442720.1:c.137T>C
  hgvsp: ENSP00000394957.1:p.Ile46Thr
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000263753
  ensembl transcript: ENST00000263753
  gene symbol: SGOL1
  hgvsc: ENST00000263753.4:c.137T>C
  hgvsp: ENSP00000263753.4:p.Ile46Thr
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000410458
  ensembl transcript: ENST00000412997
  gene symbol: SGOL1
  hgvsc: ENST00000412997.1:c.137T>C
  hgvsp: ENSP00000410458.1:p.Ile46Thr
  variant of: http://identifiers.org/hgnc/25088
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4917
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile46Thr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-20225384-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20225384
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 20225384
    reference: chr 3
allele count: 6
allele frequency: 4.947637503092273e-5
allele num: 121270
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000441442
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000441442.1:n.359-2083T>C
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000373284
  ensembl transcript: ENST00000383774
  gene symbol: SGOL1
  hgvsc: ENST00000383774.1:c.136A>G
  hgvsp: ENSP00000373284.1:p.Ile46Val
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000410458
  ensembl transcript: ENST00000412997
  gene symbol: SGOL1
  hgvsc: ENST00000412997.1:c.136A>G
  hgvsp: ENSP00000410458.1:p.Ile46Val
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394957
  ensembl transcript: ENST00000442720
  gene symbol: SGOL1
  hgvsc: ENST00000442720.1:c.136A>G
  hgvsp: ENSP00000394957.1:p.Ile46Val
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000306581
  ensembl transcript: ENST00000306698
  gene symbol: SGOL1
  hgvsc: ENST00000306698.2:c.136A>G
  hgvsp: ENSP00000306581.2:p.Ile46Val
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414960
  ensembl transcript: ENST00000425061
  gene symbol: SGOL1
  hgvsc: ENST00000425061.1:c.136A>G
  hgvsp: ENSP00000414960.1:p.Ile46Val
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394625
  ensembl transcript: ENST00000419233
  gene symbol: SGOL1
  hgvsc: ENST00000419233.2:c.136A>G
  hgvsp: ENSP00000394625.2:p.Ile46Val
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000397672
  ensembl transcript: ENST00000456624
  gene symbol: SGOL1
  hgvsc: ENST00000456624.1:c.136A>G
  hgvsp: ENSP00000397672.1:p.Ile46Val
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000263753
  ensembl transcript: ENST00000263753
  gene symbol: SGOL1
  hgvsc: ENST00000263753.4:c.136A>G
  hgvsp: ENSP00000263753.4:p.Ile46Val
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000411200
  ensembl transcript: ENST00000452020
  gene symbol: SGOL1
  hgvsc: ENST00000452020.1:c.136A>G
  hgvsp: ENSP00000411200.1:p.Ile46Val
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000389034
  ensembl transcript: ENST00000437051
  gene symbol: SGOL1
  hgvsc: ENST00000437051.1:c.136A>G
  hgvsp: ENSP00000389034.1:p.Ile46Val
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414129
  ensembl transcript: ENST00000421451
  gene symbol: SGOL1
  hgvsc: ENST00000421451.1:c.136A>G
  hgvsp: ENSP00000414129.1:p.Ile46Val
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000448208
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000448208.1:n.367-2083T>C
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000406880
  ensembl transcript: ENST00000412868
  gene symbol: SGOL1
  hgvsc: ENST00000412868.1:c.136A>G
  hgvsp: ENSP00000406880.1:p.Ile46Val
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000404562
  ensembl transcript: ENST00000429446
  gene symbol: SGOL1
  hgvsc: ENST00000429446.3:c.136A>G
  hgvsp: ENSP00000404562.3:p.Ile46Val
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394613
  ensembl transcript: ENST00000417364
  gene symbol: SGOL1
  hgvsc: ENST00000417364.1:c.136A>G
  hgvsp: ENSP00000394613.1:p.Ile46Val
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000413070
  ensembl transcript: ENST00000443724
  gene symbol: SGOL1
  hgvsc: ENST00000443724.1:c.136A>G
  hgvsp: ENSP00000413070.1:p.Ile46Val
  variant of: http://identifiers.org/hgnc/25088
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11127
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile46Val
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

3-20225393-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20225393
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 20225393
    reference: chr 3
allele count: 3
allele frequency: 2.473614775725594e-5
allele num: 121280
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000406880
  ensembl transcript: ENST00000412868
  gene symbol: SGOL1
  hgvsc: ENST00000412868.1:c.127C>T
  hgvsp: ENSP00000406880.1:p.Pro43Ser
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394957
  ensembl transcript: ENST00000442720
  gene symbol: SGOL1
  hgvsc: ENST00000442720.1:c.127C>T
  hgvsp: ENSP00000394957.1:p.Pro43Ser
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000263753
  ensembl transcript: ENST00000263753
  gene symbol: SGOL1
  hgvsc: ENST00000263753.4:c.127C>T
  hgvsp: ENSP00000263753.4:p.Pro43Ser
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394613
  ensembl transcript: ENST00000417364
  gene symbol: SGOL1
  hgvsc: ENST00000417364.1:c.127C>T
  hgvsp: ENSP00000394613.1:p.Pro43Ser
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000389034
  ensembl transcript: ENST00000437051
  gene symbol: SGOL1
  hgvsc: ENST00000437051.1:c.127C>T
  hgvsp: ENSP00000389034.1:p.Pro43Ser
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394625
  ensembl transcript: ENST00000419233
  gene symbol: SGOL1
  hgvsc: ENST00000419233.2:c.127C>T
  hgvsp: ENSP00000394625.2:p.Pro43Ser
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000373284
  ensembl transcript: ENST00000383774
  gene symbol: SGOL1
  hgvsc: ENST00000383774.1:c.127C>T
  hgvsp: ENSP00000373284.1:p.Pro43Ser
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000448208
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000448208.1:n.367-2074G>A
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000397672
  ensembl transcript: ENST00000456624
  gene symbol: SGOL1
  hgvsc: ENST00000456624.1:c.127C>T
  hgvsp: ENSP00000397672.1:p.Pro43Ser
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000306581
  ensembl transcript: ENST00000306698
  gene symbol: SGOL1
  hgvsc: ENST00000306698.2:c.127C>T
  hgvsp: ENSP00000306581.2:p.Pro43Ser
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414960
  ensembl transcript: ENST00000425061
  gene symbol: SGOL1
  hgvsc: ENST00000425061.1:c.127C>T
  hgvsp: ENSP00000414960.1:p.Pro43Ser
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000410458
  ensembl transcript: ENST00000412997
  gene symbol: SGOL1
  hgvsc: ENST00000412997.1:c.127C>T
  hgvsp: ENSP00000410458.1:p.Pro43Ser
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414129
  ensembl transcript: ENST00000421451
  gene symbol: SGOL1
  hgvsc: ENST00000421451.1:c.127C>T
  hgvsp: ENSP00000414129.1:p.Pro43Ser
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000441442
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000441442.1:n.359-2074G>A
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000404562
  ensembl transcript: ENST00000429446
  gene symbol: SGOL1
  hgvsc: ENST00000429446.3:c.127C>T
  hgvsp: ENSP00000404562.3:p.Pro43Ser
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000411200
  ensembl transcript: ENST00000452020
  gene symbol: SGOL1
  hgvsc: ENST00000452020.1:c.127C>T
  hgvsp: ENSP00000411200.1:p.Pro43Ser
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000413070
  ensembl transcript: ENST00000443724
  gene symbol: SGOL1
  hgvsc: ENST00000443724.1:c.127C>T
  hgvsp: ENSP00000413070.1:p.Pro43Ser
  variant of: http://identifiers.org/hgnc/25088
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2477
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23297
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro43Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

3-20225399-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20225399
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 20225399
    reference: chr 3
allele count: 1
allele frequency: 8.244974687927709e-6
allele num: 121286
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000306581
  ensembl transcript: ENST00000306698
  gene symbol: SGOL1
  hgvsc: ENST00000306698.2:c.121G>C
  hgvsp: ENSP00000306581.2:p.Ala41Pro
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000413070
  ensembl transcript: ENST00000443724
  gene symbol: SGOL1
  hgvsc: ENST00000443724.1:c.121G>C
  hgvsp: ENSP00000413070.1:p.Ala41Pro
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000404562
  ensembl transcript: ENST00000429446
  gene symbol: SGOL1
  hgvsc: ENST00000429446.3:c.121G>C
  hgvsp: ENSP00000404562.3:p.Ala41Pro
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394625
  ensembl transcript: ENST00000419233
  gene symbol: SGOL1
  hgvsc: ENST00000419233.2:c.121G>C
  hgvsp: ENSP00000394625.2:p.Ala41Pro
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394957
  ensembl transcript: ENST00000442720
  gene symbol: SGOL1
  hgvsc: ENST00000442720.1:c.121G>C
  hgvsp: ENSP00000394957.1:p.Ala41Pro
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414960
  ensembl transcript: ENST00000425061
  gene symbol: SGOL1
  hgvsc: ENST00000425061.1:c.121G>C
  hgvsp: ENSP00000414960.1:p.Ala41Pro
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000410458
  ensembl transcript: ENST00000412997
  gene symbol: SGOL1
  hgvsc: ENST00000412997.1:c.121G>C
  hgvsp: ENSP00000410458.1:p.Ala41Pro
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000448208
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000448208.1:n.367-2068C>G
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000389034
  ensembl transcript: ENST00000437051
  gene symbol: SGOL1
  hgvsc: ENST00000437051.1:c.121G>C
  hgvsp: ENSP00000389034.1:p.Ala41Pro
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414129
  ensembl transcript: ENST00000421451
  gene symbol: SGOL1
  hgvsc: ENST00000421451.1:c.121G>C
  hgvsp: ENSP00000414129.1:p.Ala41Pro
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000406880
  ensembl transcript: ENST00000412868
  gene symbol: SGOL1
  hgvsc: ENST00000412868.1:c.121G>C
  hgvsp: ENSP00000406880.1:p.Ala41Pro
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000263753
  ensembl transcript: ENST00000263753
  gene symbol: SGOL1
  hgvsc: ENST00000263753.4:c.121G>C
  hgvsp: ENSP00000263753.4:p.Ala41Pro
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000441442
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000441442.1:n.359-2068C>G
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000397672
  ensembl transcript: ENST00000456624
  gene symbol: SGOL1
  hgvsc: ENST00000456624.1:c.121G>C
  hgvsp: ENSP00000397672.1:p.Ala41Pro
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394613
  ensembl transcript: ENST00000417364
  gene symbol: SGOL1
  hgvsc: ENST00000417364.1:c.121G>C
  hgvsp: ENSP00000394613.1:p.Ala41Pro
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000411200
  ensembl transcript: ENST00000452020
  gene symbol: SGOL1
  hgvsc: ENST00000452020.1:c.121G>C
  hgvsp: ENSP00000411200.1:p.Ala41Pro
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000373284
  ensembl transcript: ENST00000383774
  gene symbol: SGOL1
  hgvsc: ENST00000383774.1:c.121G>C
  hgvsp: ENSP00000373284.1:p.Ala41Pro
  variant of: http://identifiers.org/hgnc/25088
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4916
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2479
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala41Pro
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

3-20225402-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20225402
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 20225402
    reference: chr 3
allele count: 8
allele frequency: 6.5955447095487e-5
allele num: 121294
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414129
  ensembl transcript: ENST00000421451
  gene symbol: SGOL1
  hgvsc: ENST00000421451.1:c.118A>G
  hgvsp: ENSP00000414129.1:p.Ile40Val
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000411200
  ensembl transcript: ENST00000452020
  gene symbol: SGOL1
  hgvsc: ENST00000452020.1:c.118A>G
  hgvsp: ENSP00000411200.1:p.Ile40Val
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394625
  ensembl transcript: ENST00000419233
  gene symbol: SGOL1
  hgvsc: ENST00000419233.2:c.118A>G
  hgvsp: ENSP00000394625.2:p.Ile40Val
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000406880
  ensembl transcript: ENST00000412868
  gene symbol: SGOL1
  hgvsc: ENST00000412868.1:c.118A>G
  hgvsp: ENSP00000406880.1:p.Ile40Val
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000404562
  ensembl transcript: ENST00000429446
  gene symbol: SGOL1
  hgvsc: ENST00000429446.3:c.118A>G
  hgvsp: ENSP00000404562.3:p.Ile40Val
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000397672
  ensembl transcript: ENST00000456624
  gene symbol: SGOL1
  hgvsc: ENST00000456624.1:c.118A>G
  hgvsp: ENSP00000397672.1:p.Ile40Val
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000448208
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000448208.1:n.367-2065T>C
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000373284
  ensembl transcript: ENST00000383774
  gene symbol: SGOL1
  hgvsc: ENST00000383774.1:c.118A>G
  hgvsp: ENSP00000373284.1:p.Ile40Val
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000410458
  ensembl transcript: ENST00000412997
  gene symbol: SGOL1
  hgvsc: ENST00000412997.1:c.118A>G
  hgvsp: ENSP00000410458.1:p.Ile40Val
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414960
  ensembl transcript: ENST00000425061
  gene symbol: SGOL1
  hgvsc: ENST00000425061.1:c.118A>G
  hgvsp: ENSP00000414960.1:p.Ile40Val
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000389034
  ensembl transcript: ENST00000437051
  gene symbol: SGOL1
  hgvsc: ENST00000437051.1:c.118A>G
  hgvsp: ENSP00000389034.1:p.Ile40Val
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000413070
  ensembl transcript: ENST00000443724
  gene symbol: SGOL1
  hgvsc: ENST00000443724.1:c.118A>G
  hgvsp: ENSP00000413070.1:p.Ile40Val
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394957
  ensembl transcript: ENST00000442720
  gene symbol: SGOL1
  hgvsc: ENST00000442720.1:c.118A>G
  hgvsp: ENSP00000394957.1:p.Ile40Val
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000263753
  ensembl transcript: ENST00000263753
  gene symbol: SGOL1
  hgvsc: ENST00000263753.4:c.118A>G
  hgvsp: ENSP00000263753.4:p.Ile40Val
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000306581
  ensembl transcript: ENST00000306698
  gene symbol: SGOL1
  hgvsc: ENST00000306698.2:c.118A>G
  hgvsp: ENSP00000306581.2:p.Ile40Val
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000441442
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000441442.1:n.359-2065T>C
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394613
  ensembl transcript: ENST00000417364
  gene symbol: SGOL1
  hgvsc: ENST00000417364.1:c.118A>G
  hgvsp: ENSP00000394613.1:p.Ile40Val
  variant of: http://identifiers.org/hgnc/25088
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2478
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11106
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile40Val
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

http://identifiers.org/exac.variant/3-20225406-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20225406
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 20225406
    reference: chr 3
allele count: 8
allele frequency: 6.595870984763538e-5
allele num: 121288
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000410458
  ensembl transcript: ENST00000412997
  gene symbol: SGOL1
  hgvsc: ENST00000412997.1:c.114T>G
  hgvsp: ENST00000412997.1:c.114T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000411200
  ensembl transcript: ENST00000452020
  gene symbol: SGOL1
  hgvsc: ENST00000452020.1:c.114T>G
  hgvsp: ENST00000452020.1:c.114T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414129
  ensembl transcript: ENST00000421451
  gene symbol: SGOL1
  hgvsc: ENST00000421451.1:c.114T>G
  hgvsp: ENST00000421451.1:c.114T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000373284
  ensembl transcript: ENST00000383774
  gene symbol: SGOL1
  hgvsc: ENST00000383774.1:c.114T>G
  hgvsp: ENST00000383774.1:c.114T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000406880
  ensembl transcript: ENST00000412868
  gene symbol: SGOL1
  hgvsc: ENST00000412868.1:c.114T>G
  hgvsp: ENST00000412868.1:c.114T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000441442
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000441442.1:n.359-2061A>C
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394957
  ensembl transcript: ENST00000442720
  gene symbol: SGOL1
  hgvsc: ENST00000442720.1:c.114T>G
  hgvsp: ENST00000442720.1:c.114T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000404562
  ensembl transcript: ENST00000429446
  gene symbol: SGOL1
  hgvsc: ENST00000429446.3:c.114T>G
  hgvsp: ENST00000429446.3:c.114T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000397672
  ensembl transcript: ENST00000456624
  gene symbol: SGOL1
  hgvsc: ENST00000456624.1:c.114T>G
  hgvsp: ENST00000456624.1:c.114T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000389034
  ensembl transcript: ENST00000437051
  gene symbol: SGOL1
  hgvsc: ENST00000437051.1:c.114T>G
  hgvsp: ENST00000437051.1:c.114T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000413070
  ensembl transcript: ENST00000443724
  gene symbol: SGOL1
  hgvsc: ENST00000443724.1:c.114T>G
  hgvsp: ENST00000443724.1:c.114T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000263753
  ensembl transcript: ENST00000263753
  gene symbol: SGOL1
  hgvsc: ENST00000263753.4:c.114T>G
  hgvsp: ENST00000263753.4:c.114T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414960
  ensembl transcript: ENST00000425061
  gene symbol: SGOL1
  hgvsc: ENST00000425061.1:c.114T>G
  hgvsp: ENST00000425061.1:c.114T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394625
  ensembl transcript: ENST00000419233
  gene symbol: SGOL1
  hgvsc: ENST00000419233.2:c.114T>G
  hgvsp: ENST00000419233.2:c.114T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000448208
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000448208.1:n.367-2061A>C
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394613
  ensembl transcript: ENST00000417364
  gene symbol: SGOL1
  hgvsc: ENST00000417364.1:c.114T>G
  hgvsp: ENST00000417364.1:c.114T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000306581
  ensembl transcript: ENST00000306698
  gene symbol: SGOL1
  hgvsc: ENST00000306698.2:c.114T>G
  hgvsp: ENST00000306698.2:c.114T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11095
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4916
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2479
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ser38Ser
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

3-20225406-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20225406
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 20225406
    reference: chr 3
allele count: 1
allele frequency: 8.244838730954422e-6
allele num: 121288
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000397672
  ensembl transcript: ENST00000456624
  gene symbol: SGOL1
  hgvsc: ENST00000456624.1:c.114T>C
  hgvsp: ENST00000456624.1:c.114T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414960
  ensembl transcript: ENST00000425061
  gene symbol: SGOL1
  hgvsc: ENST00000425061.1:c.114T>C
  hgvsp: ENST00000425061.1:c.114T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000263753
  ensembl transcript: ENST00000263753
  gene symbol: SGOL1
  hgvsc: ENST00000263753.4:c.114T>C
  hgvsp: ENST00000263753.4:c.114T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000306581
  ensembl transcript: ENST00000306698
  gene symbol: SGOL1
  hgvsc: ENST00000306698.2:c.114T>C
  hgvsp: ENST00000306698.2:c.114T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000441442
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000441442.1:n.359-2061A>G
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000406880
  ensembl transcript: ENST00000412868
  gene symbol: SGOL1
  hgvsc: ENST00000412868.1:c.114T>C
  hgvsp: ENST00000412868.1:c.114T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394613
  ensembl transcript: ENST00000417364
  gene symbol: SGOL1
  hgvsc: ENST00000417364.1:c.114T>C
  hgvsp: ENST00000417364.1:c.114T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000404562
  ensembl transcript: ENST00000429446
  gene symbol: SGOL1
  hgvsc: ENST00000429446.3:c.114T>C
  hgvsp: ENST00000429446.3:c.114T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000448208
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000448208.1:n.367-2061A>G
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000411200
  ensembl transcript: ENST00000452020
  gene symbol: SGOL1
  hgvsc: ENST00000452020.1:c.114T>C
  hgvsp: ENST00000452020.1:c.114T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000389034
  ensembl transcript: ENST00000437051
  gene symbol: SGOL1
  hgvsc: ENST00000437051.1:c.114T>C
  hgvsp: ENST00000437051.1:c.114T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414129
  ensembl transcript: ENST00000421451
  gene symbol: SGOL1
  hgvsc: ENST00000421451.1:c.114T>C
  hgvsp: ENST00000421451.1:c.114T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000373284
  ensembl transcript: ENST00000383774
  gene symbol: SGOL1
  hgvsc: ENST00000383774.1:c.114T>C
  hgvsp: ENST00000383774.1:c.114T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394625
  ensembl transcript: ENST00000419233
  gene symbol: SGOL1
  hgvsc: ENST00000419233.2:c.114T>C
  hgvsp: ENST00000419233.2:c.114T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394957
  ensembl transcript: ENST00000442720
  gene symbol: SGOL1
  hgvsc: ENST00000442720.1:c.114T>C
  hgvsp: ENST00000442720.1:c.114T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000410458
  ensembl transcript: ENST00000412997
  gene symbol: SGOL1
  hgvsc: ENST00000412997.1:c.114T>C
  hgvsp: ENST00000412997.1:c.114T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000413070
  ensembl transcript: ENST00000443724
  gene symbol: SGOL1
  hgvsc: ENST00000443724.1:c.114T>C
  hgvsp: ENST00000443724.1:c.114T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23311
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser38Ser
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

3-20225414-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20225414
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 20225414
    reference: chr 3
allele count: 1
allele frequency: 8.245110649384915e-6
allele num: 121284
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000406880
  ensembl transcript: ENST00000412868
  gene symbol: SGOL1
  hgvsc: ENST00000412868.1:c.106C>G
  hgvsp: ENSP00000406880.1:p.Arg36Gly
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394613
  ensembl transcript: ENST00000417364
  gene symbol: SGOL1
  hgvsc: ENST00000417364.1:c.106C>G
  hgvsp: ENSP00000394613.1:p.Arg36Gly
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000373284
  ensembl transcript: ENST00000383774
  gene symbol: SGOL1
  hgvsc: ENST00000383774.1:c.106C>G
  hgvsp: ENSP00000373284.1:p.Arg36Gly
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414960
  ensembl transcript: ENST00000425061
  gene symbol: SGOL1
  hgvsc: ENST00000425061.1:c.106C>G
  hgvsp: ENSP00000414960.1:p.Arg36Gly
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000448208
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000448208.1:n.367-2053G>C
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394625
  ensembl transcript: ENST00000419233
  gene symbol: SGOL1
  hgvsc: ENST00000419233.2:c.106C>G
  hgvsp: ENSP00000394625.2:p.Arg36Gly
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000441442
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000441442.1:n.359-2053G>C
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000404562
  ensembl transcript: ENST00000429446
  gene symbol: SGOL1
  hgvsc: ENST00000429446.3:c.106C>G
  hgvsp: ENSP00000404562.3:p.Arg36Gly
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000397672
  ensembl transcript: ENST00000456624
  gene symbol: SGOL1
  hgvsc: ENST00000456624.1:c.106C>G
  hgvsp: ENSP00000397672.1:p.Arg36Gly
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000413070
  ensembl transcript: ENST00000443724
  gene symbol: SGOL1
  hgvsc: ENST00000443724.1:c.106C>G
  hgvsp: ENSP00000413070.1:p.Arg36Gly
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000389034
  ensembl transcript: ENST00000437051
  gene symbol: SGOL1
  hgvsc: ENST00000437051.1:c.106C>G
  hgvsp: ENSP00000389034.1:p.Arg36Gly
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394957
  ensembl transcript: ENST00000442720
  gene symbol: SGOL1
  hgvsc: ENST00000442720.1:c.106C>G
  hgvsp: ENSP00000394957.1:p.Arg36Gly
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000410458
  ensembl transcript: ENST00000412997
  gene symbol: SGOL1
  hgvsc: ENST00000412997.1:c.106C>G
  hgvsp: ENSP00000410458.1:p.Arg36Gly
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000306581
  ensembl transcript: ENST00000306698
  gene symbol: SGOL1
  hgvsc: ENST00000306698.2:c.106C>G
  hgvsp: ENSP00000306581.2:p.Arg36Gly
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414129
  ensembl transcript: ENST00000421451
  gene symbol: SGOL1
  hgvsc: ENST00000421451.1:c.106C>G
  hgvsp: ENSP00000414129.1:p.Arg36Gly
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000263753
  ensembl transcript: ENST00000263753
  gene symbol: SGOL1
  hgvsc: ENST00000263753.4:c.106C>G
  hgvsp: ENSP00000263753.4:p.Arg36Gly
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000411200
  ensembl transcript: ENST00000452020
  gene symbol: SGOL1
  hgvsc: ENST00000452020.1:c.106C>G
  hgvsp: ENSP00000411200.1:p.Arg36Gly
  variant of: http://identifiers.org/hgnc/25088
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg36Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS

3-20225423-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20225423
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 20225423
    reference: chr 3
allele count: 1
allele frequency: 8.245110649384915e-6
allele num: 121284
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000306581
  ensembl transcript: ENST00000306698
  gene symbol: SGOL1
  hgvsc: ENST00000306698.2:c.97A>C
  hgvsp: ENSP00000306581.2:p.Ile33Leu
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000263753
  ensembl transcript: ENST00000263753
  gene symbol: SGOL1
  hgvsc: ENST00000263753.4:c.97A>C
  hgvsp: ENSP00000263753.4:p.Ile33Leu
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000389034
  ensembl transcript: ENST00000437051
  gene symbol: SGOL1
  hgvsc: ENST00000437051.1:c.97A>C
  hgvsp: ENSP00000389034.1:p.Ile33Leu
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000406880
  ensembl transcript: ENST00000412868
  gene symbol: SGOL1
  hgvsc: ENST00000412868.1:c.97A>C
  hgvsp: ENSP00000406880.1:p.Ile33Leu
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394613
  ensembl transcript: ENST00000417364
  gene symbol: SGOL1
  hgvsc: ENST00000417364.1:c.97A>C
  hgvsp: ENSP00000394613.1:p.Ile33Leu
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414129
  ensembl transcript: ENST00000421451
  gene symbol: SGOL1
  hgvsc: ENST00000421451.1:c.97A>C
  hgvsp: ENSP00000414129.1:p.Ile33Leu
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000404562
  ensembl transcript: ENST00000429446
  gene symbol: SGOL1
  hgvsc: ENST00000429446.3:c.97A>C
  hgvsp: ENSP00000404562.3:p.Ile33Leu
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000448208
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000448208.1:n.367-2044T>G
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394957
  ensembl transcript: ENST00000442720
  gene symbol: SGOL1
  hgvsc: ENST00000442720.1:c.97A>C
  hgvsp: ENSP00000394957.1:p.Ile33Leu
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000413070
  ensembl transcript: ENST00000443724
  gene symbol: SGOL1
  hgvsc: ENST00000443724.1:c.97A>C
  hgvsp: ENSP00000413070.1:p.Ile33Leu
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000411200
  ensembl transcript: ENST00000452020
  gene symbol: SGOL1
  hgvsc: ENST00000452020.1:c.97A>C
  hgvsp: ENSP00000411200.1:p.Ile33Leu
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000373284
  ensembl transcript: ENST00000383774
  gene symbol: SGOL1
  hgvsc: ENST00000383774.1:c.97A>C
  hgvsp: ENSP00000373284.1:p.Ile33Leu
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394625
  ensembl transcript: ENST00000419233
  gene symbol: SGOL1
  hgvsc: ENST00000419233.2:c.97A>C
  hgvsp: ENSP00000394625.2:p.Ile33Leu
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414960
  ensembl transcript: ENST00000425061
  gene symbol: SGOL1
  hgvsc: ENST00000425061.1:c.97A>C
  hgvsp: ENSP00000414960.1:p.Ile33Leu
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000441442
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000441442.1:n.359-2044T>G
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000410458
  ensembl transcript: ENST00000412997
  gene symbol: SGOL1
  hgvsc: ENST00000412997.1:c.97A>C
  hgvsp: ENSP00000410458.1:p.Ile33Leu
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000397672
  ensembl transcript: ENST00000456624
  gene symbol: SGOL1
  hgvsc: ENST00000456624.1:c.97A>C
  hgvsp: ENSP00000397672.1:p.Ile33Leu
  variant of: http://identifiers.org/hgnc/25088
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile33Leu
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

3-20225427-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20225427
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 20225427
    reference: chr 3
allele count: 1
allele frequency: 8.24551856066228e-6
allele num: 121278
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000373284
  ensembl transcript: ENST00000383774
  gene symbol: SGOL1
  hgvsc: ENST00000383774.1:c.93A>G
  hgvsp: ENST00000383774.1:c.93A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000404562
  ensembl transcript: ENST00000429446
  gene symbol: SGOL1
  hgvsc: ENST00000429446.3:c.93A>G
  hgvsp: ENST00000429446.3:c.93A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000389034
  ensembl transcript: ENST00000437051
  gene symbol: SGOL1
  hgvsc: ENST00000437051.1:c.93A>G
  hgvsp: ENST00000437051.1:c.93A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000448208
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000448208.1:n.367-2040T>C
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000413070
  ensembl transcript: ENST00000443724
  gene symbol: SGOL1
  hgvsc: ENST00000443724.1:c.93A>G
  hgvsp: ENST00000443724.1:c.93A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000411200
  ensembl transcript: ENST00000452020
  gene symbol: SGOL1
  hgvsc: ENST00000452020.1:c.93A>G
  hgvsp: ENST00000452020.1:c.93A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000306581
  ensembl transcript: ENST00000306698
  gene symbol: SGOL1
  hgvsc: ENST00000306698.2:c.93A>G
  hgvsp: ENST00000306698.2:c.93A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394625
  ensembl transcript: ENST00000419233
  gene symbol: SGOL1
  hgvsc: ENST00000419233.2:c.93A>G
  hgvsp: ENST00000419233.2:c.93A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414960
  ensembl transcript: ENST00000425061
  gene symbol: SGOL1
  hgvsc: ENST00000425061.1:c.93A>G
  hgvsp: ENST00000425061.1:c.93A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000406880
  ensembl transcript: ENST00000412868
  gene symbol: SGOL1
  hgvsc: ENST00000412868.1:c.93A>G
  hgvsp: ENST00000412868.1:c.93A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394957
  ensembl transcript: ENST00000442720
  gene symbol: SGOL1
  hgvsc: ENST00000442720.1:c.93A>G
  hgvsp: ENST00000442720.1:c.93A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414129
  ensembl transcript: ENST00000421451
  gene symbol: SGOL1
  hgvsc: ENST00000421451.1:c.93A>G
  hgvsp: ENST00000421451.1:c.93A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000263753
  ensembl transcript: ENST00000263753
  gene symbol: SGOL1
  hgvsc: ENST00000263753.4:c.93A>G
  hgvsp: ENST00000263753.4:c.93A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000410458
  ensembl transcript: ENST00000412997
  gene symbol: SGOL1
  hgvsc: ENST00000412997.1:c.93A>G
  hgvsp: ENST00000412997.1:c.93A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000397672
  ensembl transcript: ENST00000456624
  gene symbol: SGOL1
  hgvsc: ENST00000456624.1:c.93A>G
  hgvsp: ENST00000456624.1:c.93A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394613
  ensembl transcript: ENST00000417364
  gene symbol: SGOL1
  hgvsc: ENST00000417364.1:c.93A>G
  hgvsp: ENST00000417364.1:c.93A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000441442
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000441442.1:n.359-2040T>C
  variant of: http://identifiers.org/hgnc/41081
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala31Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/3-20225429-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20225429
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 20225429
    reference: chr 3
allele count: 35
allele frequency: 2.885408079142622e-4
allele num: 121300
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000306581
  ensembl transcript: ENST00000306698
  gene symbol: SGOL1
  hgvsc: ENST00000306698.2:c.91G>T
  hgvsp: ENSP00000306581.2:p.Ala31Ser
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000373284
  ensembl transcript: ENST00000383774
  gene symbol: SGOL1
  hgvsc: ENST00000383774.1:c.91G>T
  hgvsp: ENSP00000373284.1:p.Ala31Ser
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000410458
  ensembl transcript: ENST00000412997
  gene symbol: SGOL1
  hgvsc: ENST00000412997.1:c.91G>T
  hgvsp: ENSP00000410458.1:p.Ala31Ser
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000413070
  ensembl transcript: ENST00000443724
  gene symbol: SGOL1
  hgvsc: ENST00000443724.1:c.91G>T
  hgvsp: ENSP00000413070.1:p.Ala31Ser
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000406880
  ensembl transcript: ENST00000412868
  gene symbol: SGOL1
  hgvsc: ENST00000412868.1:c.91G>T
  hgvsp: ENSP00000406880.1:p.Ala31Ser
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414129
  ensembl transcript: ENST00000421451
  gene symbol: SGOL1
  hgvsc: ENST00000421451.1:c.91G>T
  hgvsp: ENSP00000414129.1:p.Ala31Ser
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000263753
  ensembl transcript: ENST00000263753
  gene symbol: SGOL1
  hgvsc: ENST00000263753.4:c.91G>T
  hgvsp: ENSP00000263753.4:p.Ala31Ser
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394625
  ensembl transcript: ENST00000419233
  gene symbol: SGOL1
  hgvsc: ENST00000419233.2:c.91G>T
  hgvsp: ENSP00000394625.2:p.Ala31Ser
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394957
  ensembl transcript: ENST00000442720
  gene symbol: SGOL1
  hgvsc: ENST00000442720.1:c.91G>T
  hgvsp: ENSP00000394957.1:p.Ala31Ser
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414960
  ensembl transcript: ENST00000425061
  gene symbol: SGOL1
  hgvsc: ENST00000425061.1:c.91G>T
  hgvsp: ENSP00000414960.1:p.Ala31Ser
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000411200
  ensembl transcript: ENST00000452020
  gene symbol: SGOL1
  hgvsc: ENST00000452020.1:c.91G>T
  hgvsp: ENSP00000411200.1:p.Ala31Ser
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000404562
  ensembl transcript: ENST00000429446
  gene symbol: SGOL1
  hgvsc: ENST00000429446.3:c.91G>T
  hgvsp: ENSP00000404562.3:p.Ala31Ser
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394613
  ensembl transcript: ENST00000417364
  gene symbol: SGOL1
  hgvsc: ENST00000417364.1:c.91G>T
  hgvsp: ENSP00000394613.1:p.Ala31Ser
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000389034
  ensembl transcript: ENST00000437051
  gene symbol: SGOL1
  hgvsc: ENST00000437051.1:c.91G>T
  hgvsp: ENSP00000389034.1:p.Ala31Ser
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000397672
  ensembl transcript: ENST00000456624
  gene symbol: SGOL1
  hgvsc: ENST00000456624.1:c.91G>T
  hgvsp: ENSP00000397672.1:p.Ala31Ser
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000448208
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000448208.1:n.367-2038C>A
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000441442
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000441442.1:n.359-2038C>A
  variant of: http://identifiers.org/hgnc/41081
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4907
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ala31Ser
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

3-20225434-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20225434
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 20225434
    reference: chr 3
allele count: 2
allele frequency: 1.648777431534517e-5
allele num: 121302
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000448208
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000448208.1:n.367-2033T>C
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000373284
  ensembl transcript: ENST00000383774
  gene symbol: SGOL1
  hgvsc: ENST00000383774.1:c.86A>G
  hgvsp: ENSP00000373284.1:p.Asn29Ser
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000397672
  ensembl transcript: ENST00000456624
  gene symbol: SGOL1
  hgvsc: ENST00000456624.1:c.86A>G
  hgvsp: ENSP00000397672.1:p.Asn29Ser
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000404562
  ensembl transcript: ENST00000429446
  gene symbol: SGOL1
  hgvsc: ENST00000429446.3:c.86A>G
  hgvsp: ENSP00000404562.3:p.Asn29Ser
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000441442
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000441442.1:n.359-2033T>C
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000406880
  ensembl transcript: ENST00000412868
  gene symbol: SGOL1
  hgvsc: ENST00000412868.1:c.86A>G
  hgvsp: ENSP00000406880.1:p.Asn29Ser
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000306581
  ensembl transcript: ENST00000306698
  gene symbol: SGOL1
  hgvsc: ENST00000306698.2:c.86A>G
  hgvsp: ENSP00000306581.2:p.Asn29Ser
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000413070
  ensembl transcript: ENST00000443724
  gene symbol: SGOL1
  hgvsc: ENST00000443724.1:c.86A>G
  hgvsp: ENSP00000413070.1:p.Asn29Ser
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414129
  ensembl transcript: ENST00000421451
  gene symbol: SGOL1
  hgvsc: ENST00000421451.1:c.86A>G
  hgvsp: ENSP00000414129.1:p.Asn29Ser
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394613
  ensembl transcript: ENST00000417364
  gene symbol: SGOL1
  hgvsc: ENST00000417364.1:c.86A>G
  hgvsp: ENSP00000394613.1:p.Asn29Ser
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000389034
  ensembl transcript: ENST00000437051
  gene symbol: SGOL1
  hgvsc: ENST00000437051.1:c.86A>G
  hgvsp: ENSP00000389034.1:p.Asn29Ser
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394957
  ensembl transcript: ENST00000442720
  gene symbol: SGOL1
  hgvsc: ENST00000442720.1:c.86A>G
  hgvsp: ENSP00000394957.1:p.Asn29Ser
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000410458
  ensembl transcript: ENST00000412997
  gene symbol: SGOL1
  hgvsc: ENST00000412997.1:c.86A>G
  hgvsp: ENSP00000410458.1:p.Asn29Ser
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414960
  ensembl transcript: ENST00000425061
  gene symbol: SGOL1
  hgvsc: ENST00000425061.1:c.86A>G
  hgvsp: ENSP00000414960.1:p.Asn29Ser
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394625
  ensembl transcript: ENST00000419233
  gene symbol: SGOL1
  hgvsc: ENST00000419233.2:c.86A>G
  hgvsp: ENSP00000394625.2:p.Asn29Ser
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000411200
  ensembl transcript: ENST00000452020
  gene symbol: SGOL1
  hgvsc: ENST00000452020.1:c.86A>G
  hgvsp: ENSP00000411200.1:p.Asn29Ser
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000263753
  ensembl transcript: ENST00000263753
  gene symbol: SGOL1
  hgvsc: ENST00000263753.4:c.86A>G
  hgvsp: ENSP00000263753.4:p.Asn29Ser
  variant of: http://identifiers.org/hgnc/25088
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10965
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn29Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

3-20225436-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20225436
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 20225436
    reference: chr 3
allele count: 5
allele frequency: 4.121875618281343e-5
allele num: 121304
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000306581
  ensembl transcript: ENST00000306698
  gene symbol: SGOL1
  hgvsc: ENST00000306698.2:c.84A>C
  hgvsp: ENSP00000306581.2:p.Lys28Asn
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000448208
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000448208.1:n.367-2031T>G
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000263753
  ensembl transcript: ENST00000263753
  gene symbol: SGOL1
  hgvsc: ENST00000263753.4:c.84A>C
  hgvsp: ENSP00000263753.4:p.Lys28Asn
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394625
  ensembl transcript: ENST00000419233
  gene symbol: SGOL1
  hgvsc: ENST00000419233.2:c.84A>C
  hgvsp: ENSP00000394625.2:p.Lys28Asn
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000397672
  ensembl transcript: ENST00000456624
  gene symbol: SGOL1
  hgvsc: ENST00000456624.1:c.84A>C
  hgvsp: ENSP00000397672.1:p.Lys28Asn
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000411200
  ensembl transcript: ENST00000452020
  gene symbol: SGOL1
  hgvsc: ENST00000452020.1:c.84A>C
  hgvsp: ENSP00000411200.1:p.Lys28Asn
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000373284
  ensembl transcript: ENST00000383774
  gene symbol: SGOL1
  hgvsc: ENST00000383774.1:c.84A>C
  hgvsp: ENSP00000373284.1:p.Lys28Asn
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000404562
  ensembl transcript: ENST00000429446
  gene symbol: SGOL1
  hgvsc: ENST00000429446.3:c.84A>C
  hgvsp: ENSP00000404562.3:p.Lys28Asn
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000406880
  ensembl transcript: ENST00000412868
  gene symbol: SGOL1
  hgvsc: ENST00000412868.1:c.84A>C
  hgvsp: ENSP00000406880.1:p.Lys28Asn
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414960
  ensembl transcript: ENST00000425061
  gene symbol: SGOL1
  hgvsc: ENST00000425061.1:c.84A>C
  hgvsp: ENSP00000414960.1:p.Lys28Asn
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000389034
  ensembl transcript: ENST00000437051
  gene symbol: SGOL1
  hgvsc: ENST00000437051.1:c.84A>C
  hgvsp: ENSP00000389034.1:p.Lys28Asn
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414129
  ensembl transcript: ENST00000421451
  gene symbol: SGOL1
  hgvsc: ENST00000421451.1:c.84A>C
  hgvsp: ENSP00000414129.1:p.Lys28Asn
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000441442
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000441442.1:n.359-2031T>G
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394957
  ensembl transcript: ENST00000442720
  gene symbol: SGOL1
  hgvsc: ENST00000442720.1:c.84A>C
  hgvsp: ENSP00000394957.1:p.Lys28Asn
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000413070
  ensembl transcript: ENST00000443724
  gene symbol: SGOL1
  hgvsc: ENST00000443724.1:c.84A>C
  hgvsp: ENSP00000413070.1:p.Lys28Asn
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000410458
  ensembl transcript: ENST00000412997
  gene symbol: SGOL1
  hgvsc: ENST00000412997.1:c.84A>C
  hgvsp: ENSP00000410458.1:p.Lys28Asn
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394613
  ensembl transcript: ENST00000417364
  gene symbol: SGOL1
  hgvsc: ENST00000417364.1:c.84A>C
  hgvsp: ENSP00000394613.1:p.Lys28Asn
  variant of: http://identifiers.org/hgnc/25088
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4908
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys28Asn
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

3-20225449-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20225449
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 20225449
    reference: chr 3
allele count: 2
allele frequency: 1.649185302460584e-5
allele num: 121272
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000373284
  ensembl transcript: ENST00000383774
  gene symbol: SGOL1
  hgvsc: ENST00000383774.1:c.71A>G
  hgvsp: ENSP00000373284.1:p.Glu24Gly
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000406880
  ensembl transcript: ENST00000412868
  gene symbol: SGOL1
  hgvsc: ENST00000412868.1:c.71A>G
  hgvsp: ENSP00000406880.1:p.Glu24Gly
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394957
  ensembl transcript: ENST00000442720
  gene symbol: SGOL1
  hgvsc: ENST00000442720.1:c.71A>G
  hgvsp: ENSP00000394957.1:p.Glu24Gly
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000410458
  ensembl transcript: ENST00000412997
  gene symbol: SGOL1
  hgvsc: ENST00000412997.1:c.71A>G
  hgvsp: ENSP00000410458.1:p.Glu24Gly
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000306581
  ensembl transcript: ENST00000306698
  gene symbol: SGOL1
  hgvsc: ENST00000306698.2:c.71A>G
  hgvsp: ENSP00000306581.2:p.Glu24Gly
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000411200
  ensembl transcript: ENST00000452020
  gene symbol: SGOL1
  hgvsc: ENST00000452020.1:c.71A>G
  hgvsp: ENSP00000411200.1:p.Glu24Gly
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000397672
  ensembl transcript: ENST00000456624
  gene symbol: SGOL1
  hgvsc: ENST00000456624.1:c.71A>G
  hgvsp: ENSP00000397672.1:p.Glu24Gly
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000404562
  ensembl transcript: ENST00000429446
  gene symbol: SGOL1
  hgvsc: ENST00000429446.3:c.71A>G
  hgvsp: ENSP00000404562.3:p.Glu24Gly
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000263753
  ensembl transcript: ENST00000263753
  gene symbol: SGOL1
  hgvsc: ENST00000263753.4:c.71A>G
  hgvsp: ENSP00000263753.4:p.Glu24Gly
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000389034
  ensembl transcript: ENST00000437051
  gene symbol: SGOL1
  hgvsc: ENST00000437051.1:c.71A>G
  hgvsp: ENSP00000389034.1:p.Glu24Gly
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414960
  ensembl transcript: ENST00000425061
  gene symbol: SGOL1
  hgvsc: ENST00000425061.1:c.71A>G
  hgvsp: ENSP00000414960.1:p.Glu24Gly
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414129
  ensembl transcript: ENST00000421451
  gene symbol: SGOL1
  hgvsc: ENST00000421451.1:c.71A>G
  hgvsp: ENSP00000414129.1:p.Glu24Gly
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000448208
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000448208.1:n.367-2018T>C
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394613
  ensembl transcript: ENST00000417364
  gene symbol: SGOL1
  hgvsc: ENST00000417364.1:c.71A>G
  hgvsp: ENSP00000394613.1:p.Glu24Gly
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000441442
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000441442.1:n.359-2018T>C
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394625
  ensembl transcript: ENST00000419233
  gene symbol: SGOL1
  hgvsc: ENST00000419233.2:c.71A>G
  hgvsp: ENSP00000394625.2:p.Glu24Gly
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000413070
  ensembl transcript: ENST00000443724
  gene symbol: SGOL1
  hgvsc: ENST00000443724.1:c.71A>G
  hgvsp: ENSP00000413070.1:p.Glu24Gly
  variant of: http://identifiers.org/hgnc/25088
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4906
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2476
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10918
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14028
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu24Gly
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP

3-20225453-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20225453
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 20225453
    reference: chr 3
allele count: 22
allele frequency: 1.814163670547877e-4
allele num: 121268
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414960
  ensembl transcript: ENST00000425061
  gene symbol: SGOL1
  hgvsc: ENST00000425061.1:c.67A>G
  hgvsp: ENSP00000414960.1:p.Lys23Glu
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414129
  ensembl transcript: ENST00000421451
  gene symbol: SGOL1
  hgvsc: ENST00000421451.1:c.67A>G
  hgvsp: ENSP00000414129.1:p.Lys23Glu
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000397672
  ensembl transcript: ENST00000456624
  gene symbol: SGOL1
  hgvsc: ENST00000456624.1:c.67A>G
  hgvsp: ENSP00000397672.1:p.Lys23Glu
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000410458
  ensembl transcript: ENST00000412997
  gene symbol: SGOL1
  hgvsc: ENST00000412997.1:c.67A>G
  hgvsp: ENSP00000410458.1:p.Lys23Glu
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000389034
  ensembl transcript: ENST00000437051
  gene symbol: SGOL1
  hgvsc: ENST00000437051.1:c.67A>G
  hgvsp: ENSP00000389034.1:p.Lys23Glu
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000404562
  ensembl transcript: ENST00000429446
  gene symbol: SGOL1
  hgvsc: ENST00000429446.3:c.67A>G
  hgvsp: ENSP00000404562.3:p.Lys23Glu
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000306581
  ensembl transcript: ENST00000306698
  gene symbol: SGOL1
  hgvsc: ENST00000306698.2:c.67A>G
  hgvsp: ENSP00000306581.2:p.Lys23Glu
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000263753
  ensembl transcript: ENST00000263753
  gene symbol: SGOL1
  hgvsc: ENST00000263753.4:c.67A>G
  hgvsp: ENSP00000263753.4:p.Lys23Glu
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000406880
  ensembl transcript: ENST00000412868
  gene symbol: SGOL1
  hgvsc: ENST00000412868.1:c.67A>G
  hgvsp: ENSP00000406880.1:p.Lys23Glu
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000373284
  ensembl transcript: ENST00000383774
  gene symbol: SGOL1
  hgvsc: ENST00000383774.1:c.67A>G
  hgvsp: ENSP00000373284.1:p.Lys23Glu
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000441442
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000441442.1:n.359-2014T>C
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000448208
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000448208.1:n.367-2014T>C
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000411200
  ensembl transcript: ENST00000452020
  gene symbol: SGOL1
  hgvsc: ENST00000452020.1:c.67A>G
  hgvsp: ENSP00000411200.1:p.Lys23Glu
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394957
  ensembl transcript: ENST00000442720
  gene symbol: SGOL1
  hgvsc: ENST00000442720.1:c.67A>G
  hgvsp: ENSP00000394957.1:p.Lys23Glu
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394613
  ensembl transcript: ENST00000417364
  gene symbol: SGOL1
  hgvsc: ENST00000417364.1:c.67A>G
  hgvsp: ENSP00000394613.1:p.Lys23Glu
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000413070
  ensembl transcript: ENST00000443724
  gene symbol: SGOL1
  hgvsc: ENST00000443724.1:c.67A>G
  hgvsp: ENSP00000413070.1:p.Lys23Glu
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394625
  ensembl transcript: ENST00000419233
  gene symbol: SGOL1
  hgvsc: ENST00000419233.2:c.67A>G
  hgvsp: ENSP00000394625.2:p.Lys23Glu
  variant of: http://identifiers.org/hgnc/25088
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10931
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23428
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys23Glu
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

3-20225457-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20225457
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 20225457
    reference: chr 3
allele count: 1
allele frequency: 8.247014580721778e-6
allele num: 121256
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000411200
  ensembl transcript: ENST00000452020
  gene symbol: SGOL1
  hgvsc: ENST00000452020.1:c.63A>T
  hgvsp: ENST00000452020.1:c.63A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000410458
  ensembl transcript: ENST00000412997
  gene symbol: SGOL1
  hgvsc: ENST00000412997.1:c.63A>T
  hgvsp: ENST00000412997.1:c.63A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414129
  ensembl transcript: ENST00000421451
  gene symbol: SGOL1
  hgvsc: ENST00000421451.1:c.63A>T
  hgvsp: ENST00000421451.1:c.63A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394625
  ensembl transcript: ENST00000419233
  gene symbol: SGOL1
  hgvsc: ENST00000419233.2:c.63A>T
  hgvsp: ENST00000419233.2:c.63A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414960
  ensembl transcript: ENST00000425061
  gene symbol: SGOL1
  hgvsc: ENST00000425061.1:c.63A>T
  hgvsp: ENST00000425061.1:c.63A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000373284
  ensembl transcript: ENST00000383774
  gene symbol: SGOL1
  hgvsc: ENST00000383774.1:c.63A>T
  hgvsp: ENST00000383774.1:c.63A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000413070
  ensembl transcript: ENST00000443724
  gene symbol: SGOL1
  hgvsc: ENST00000443724.1:c.63A>T
  hgvsp: ENST00000443724.1:c.63A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000397672
  ensembl transcript: ENST00000456624
  gene symbol: SGOL1
  hgvsc: ENST00000456624.1:c.63A>T
  hgvsp: ENST00000456624.1:c.63A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000406880
  ensembl transcript: ENST00000412868
  gene symbol: SGOL1
  hgvsc: ENST00000412868.1:c.63A>T
  hgvsp: ENST00000412868.1:c.63A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000404562
  ensembl transcript: ENST00000429446
  gene symbol: SGOL1
  hgvsc: ENST00000429446.3:c.63A>T
  hgvsp: ENST00000429446.3:c.63A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394613
  ensembl transcript: ENST00000417364
  gene symbol: SGOL1
  hgvsc: ENST00000417364.1:c.63A>T
  hgvsp: ENST00000417364.1:c.63A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000306581
  ensembl transcript: ENST00000306698
  gene symbol: SGOL1
  hgvsc: ENST00000306698.2:c.63A>T
  hgvsp: ENST00000306698.2:c.63A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000389034
  ensembl transcript: ENST00000437051
  gene symbol: SGOL1
  hgvsc: ENST00000437051.1:c.63A>T
  hgvsp: ENST00000437051.1:c.63A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000441442
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000441442.1:n.359-2010T>A
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000448208
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000448208.1:n.367-2010T>A
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394957
  ensembl transcript: ENST00000442720
  gene symbol: SGOL1
  hgvsc: ENST00000442720.1:c.63A>T
  hgvsp: ENST00000442720.1:c.63A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000263753
  ensembl transcript: ENST00000263753
  gene symbol: SGOL1
  hgvsc: ENST00000263753.4:c.63A>T
  hgvsp: ENST00000263753.4:c.63A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23443
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10928
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4903
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg21Arg
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

3-20225458-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20225458
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 20225458
    reference: chr 3
allele count: 3
allele frequency: 2.474308430793593e-5
allele num: 121246
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000410458
  ensembl transcript: ENST00000412997
  gene symbol: SGOL1
  hgvsc: ENST00000412997.1:c.62G>A
  hgvsp: ENSP00000410458.1:p.Arg21Gln
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000406880
  ensembl transcript: ENST00000412868
  gene symbol: SGOL1
  hgvsc: ENST00000412868.1:c.62G>A
  hgvsp: ENSP00000406880.1:p.Arg21Gln
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000441442
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000441442.1:n.359-2009C>T
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000448208
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000448208.1:n.367-2009C>T
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394613
  ensembl transcript: ENST00000417364
  gene symbol: SGOL1
  hgvsc: ENST00000417364.1:c.62G>A
  hgvsp: ENSP00000394613.1:p.Arg21Gln
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000389034
  ensembl transcript: ENST00000437051
  gene symbol: SGOL1
  hgvsc: ENST00000437051.1:c.62G>A
  hgvsp: ENSP00000389034.1:p.Arg21Gln
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000411200
  ensembl transcript: ENST00000452020
  gene symbol: SGOL1
  hgvsc: ENST00000452020.1:c.62G>A
  hgvsp: ENSP00000411200.1:p.Arg21Gln
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394625
  ensembl transcript: ENST00000419233
  gene symbol: SGOL1
  hgvsc: ENST00000419233.2:c.62G>A
  hgvsp: ENSP00000394625.2:p.Arg21Gln
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394957
  ensembl transcript: ENST00000442720
  gene symbol: SGOL1
  hgvsc: ENST00000442720.1:c.62G>A
  hgvsp: ENSP00000394957.1:p.Arg21Gln
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000306581
  ensembl transcript: ENST00000306698
  gene symbol: SGOL1
  hgvsc: ENST00000306698.2:c.62G>A
  hgvsp: ENSP00000306581.2:p.Arg21Gln
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000373284
  ensembl transcript: ENST00000383774
  gene symbol: SGOL1
  hgvsc: ENST00000383774.1:c.62G>A
  hgvsp: ENSP00000373284.1:p.Arg21Gln
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000263753
  ensembl transcript: ENST00000263753
  gene symbol: SGOL1
  hgvsc: ENST00000263753.4:c.62G>A
  hgvsp: ENSP00000263753.4:p.Arg21Gln
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000404562
  ensembl transcript: ENST00000429446
  gene symbol: SGOL1
  hgvsc: ENST00000429446.3:c.62G>A
  hgvsp: ENSP00000404562.3:p.Arg21Gln
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000413070
  ensembl transcript: ENST00000443724
  gene symbol: SGOL1
  hgvsc: ENST00000443724.1:c.62G>A
  hgvsp: ENSP00000413070.1:p.Arg21Gln
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414129
  ensembl transcript: ENST00000421451
  gene symbol: SGOL1
  hgvsc: ENST00000421451.1:c.62G>A
  hgvsp: ENSP00000414129.1:p.Arg21Gln
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414960
  ensembl transcript: ENST00000425061
  gene symbol: SGOL1
  hgvsc: ENST00000425061.1:c.62G>A
  hgvsp: ENSP00000414960.1:p.Arg21Gln
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000397672
  ensembl transcript: ENST00000456624
  gene symbol: SGOL1
  hgvsc: ENST00000456624.1:c.62G>A
  hgvsp: ENSP00000397672.1:p.Arg21Gln
  variant of: http://identifiers.org/hgnc/25088
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23432
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg21Gln
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum

3-20225460-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20225460
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 20225460
    reference: chr 3
allele count: 8
allele frequency: 6.598046978094485e-5
allele num: 121248
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000389034
  ensembl transcript: ENST00000437051
  gene symbol: SGOL1
  hgvsc: ENST00000437051.1:c.60G>A
  hgvsp: ENST00000437051.1:c.60G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000306581
  ensembl transcript: ENST00000306698
  gene symbol: SGOL1
  hgvsc: ENST00000306698.2:c.60G>A
  hgvsp: ENST00000306698.2:c.60G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414960
  ensembl transcript: ENST00000425061
  gene symbol: SGOL1
  hgvsc: ENST00000425061.1:c.60G>A
  hgvsp: ENST00000425061.1:c.60G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394613
  ensembl transcript: ENST00000417364
  gene symbol: SGOL1
  hgvsc: ENST00000417364.1:c.60G>A
  hgvsp: ENST00000417364.1:c.60G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000410458
  ensembl transcript: ENST00000412997
  gene symbol: SGOL1
  hgvsc: ENST00000412997.1:c.60G>A
  hgvsp: ENST00000412997.1:c.60G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000411200
  ensembl transcript: ENST00000452020
  gene symbol: SGOL1
  hgvsc: ENST00000452020.1:c.60G>A
  hgvsp: ENST00000452020.1:c.60G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000406880
  ensembl transcript: ENST00000412868
  gene symbol: SGOL1
  hgvsc: ENST00000412868.1:c.60G>A
  hgvsp: ENST00000412868.1:c.60G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000373284
  ensembl transcript: ENST00000383774
  gene symbol: SGOL1
  hgvsc: ENST00000383774.1:c.60G>A
  hgvsp: ENST00000383774.1:c.60G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000404562
  ensembl transcript: ENST00000429446
  gene symbol: SGOL1
  hgvsc: ENST00000429446.3:c.60G>A
  hgvsp: ENST00000429446.3:c.60G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000397672
  ensembl transcript: ENST00000456624
  gene symbol: SGOL1
  hgvsc: ENST00000456624.1:c.60G>A
  hgvsp: ENST00000456624.1:c.60G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000263753
  ensembl transcript: ENST00000263753
  gene symbol: SGOL1
  hgvsc: ENST00000263753.4:c.60G>A
  hgvsp: ENST00000263753.4:c.60G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394957
  ensembl transcript: ENST00000442720
  gene symbol: SGOL1
  hgvsc: ENST00000442720.1:c.60G>A
  hgvsp: ENST00000442720.1:c.60G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000441442
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000441442.1:n.359-2007C>T
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414129
  ensembl transcript: ENST00000421451
  gene symbol: SGOL1
  hgvsc: ENST00000421451.1:c.60G>A
  hgvsp: ENST00000421451.1:c.60G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000413070
  ensembl transcript: ENST00000443724
  gene symbol: SGOL1
  hgvsc: ENST00000443724.1:c.60G>A
  hgvsp: ENST00000443724.1:c.60G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000448208
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000448208.1:n.367-2007C>T
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394625
  ensembl transcript: ENST00000419233
  gene symbol: SGOL1
  hgvsc: ENST00000419233.2:c.60G>A
  hgvsp: ENST00000419233.2:c.60G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10933
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14044
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys20Lys
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

3-20225466-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20225466
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 20225466
    reference: chr 3
allele count: 1
allele frequency: 8.247966876165026e-6
allele num: 121242
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000389034
  ensembl transcript: ENST00000437051
  gene symbol: SGOL1
  hgvsc: ENST00000437051.1:c.54A>G
  hgvsp: ENSP00000389034.1:p.Ile18Met
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000373284
  ensembl transcript: ENST00000383774
  gene symbol: SGOL1
  hgvsc: ENST00000383774.1:c.54A>G
  hgvsp: ENSP00000373284.1:p.Ile18Met
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414129
  ensembl transcript: ENST00000421451
  gene symbol: SGOL1
  hgvsc: ENST00000421451.1:c.54A>G
  hgvsp: ENSP00000414129.1:p.Ile18Met
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000411200
  ensembl transcript: ENST00000452020
  gene symbol: SGOL1
  hgvsc: ENST00000452020.1:c.54A>G
  hgvsp: ENSP00000411200.1:p.Ile18Met
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000263753
  ensembl transcript: ENST00000263753
  gene symbol: SGOL1
  hgvsc: ENST00000263753.4:c.54A>G
  hgvsp: ENSP00000263753.4:p.Ile18Met
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414960
  ensembl transcript: ENST00000425061
  gene symbol: SGOL1
  hgvsc: ENST00000425061.1:c.54A>G
  hgvsp: ENSP00000414960.1:p.Ile18Met
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394625
  ensembl transcript: ENST00000419233
  gene symbol: SGOL1
  hgvsc: ENST00000419233.2:c.54A>G
  hgvsp: ENSP00000394625.2:p.Ile18Met
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000406880
  ensembl transcript: ENST00000412868
  gene symbol: SGOL1
  hgvsc: ENST00000412868.1:c.54A>G
  hgvsp: ENSP00000406880.1:p.Ile18Met
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000413070
  ensembl transcript: ENST00000443724
  gene symbol: SGOL1
  hgvsc: ENST00000443724.1:c.54A>G
  hgvsp: ENSP00000413070.1:p.Ile18Met
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000410458
  ensembl transcript: ENST00000412997
  gene symbol: SGOL1
  hgvsc: ENST00000412997.1:c.54A>G
  hgvsp: ENSP00000410458.1:p.Ile18Met
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000306581
  ensembl transcript: ENST00000306698
  gene symbol: SGOL1
  hgvsc: ENST00000306698.2:c.54A>G
  hgvsp: ENSP00000306581.2:p.Ile18Met
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000404562
  ensembl transcript: ENST00000429446
  gene symbol: SGOL1
  hgvsc: ENST00000429446.3:c.54A>G
  hgvsp: ENSP00000404562.3:p.Ile18Met
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000448208
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000448208.1:n.367-2001T>C
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394613
  ensembl transcript: ENST00000417364
  gene symbol: SGOL1
  hgvsc: ENST00000417364.1:c.54A>G
  hgvsp: ENSP00000394613.1:p.Ile18Met
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000441442
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000441442.1:n.359-2001T>C
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000397672
  ensembl transcript: ENST00000456624
  gene symbol: SGOL1
  hgvsc: ENST00000456624.1:c.54A>G
  hgvsp: ENSP00000397672.1:p.Ile18Met
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394957
  ensembl transcript: ENST00000442720
  gene symbol: SGOL1
  hgvsc: ENST00000442720.1:c.54A>G
  hgvsp: ENSP00000394957.1:p.Ile18Met
  variant of: http://identifiers.org/hgnc/25088
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14033
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile18Met
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

3-20225470-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20225470
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 20225470
    reference: chr 3
allele count: 1
allele frequency: 8.249599894405122e-6
allele num: 121218
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000373284
  ensembl transcript: ENST00000383774
  gene symbol: SGOL1
  hgvsc: ENST00000383774.1:c.50A>G
  hgvsp: ENSP00000373284.1:p.Asp17Gly
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394613
  ensembl transcript: ENST00000417364
  gene symbol: SGOL1
  hgvsc: ENST00000417364.1:c.50A>G
  hgvsp: ENSP00000394613.1:p.Asp17Gly
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000306581
  ensembl transcript: ENST00000306698
  gene symbol: SGOL1
  hgvsc: ENST00000306698.2:c.50A>G
  hgvsp: ENSP00000306581.2:p.Asp17Gly
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414960
  ensembl transcript: ENST00000425061
  gene symbol: SGOL1
  hgvsc: ENST00000425061.1:c.50A>G
  hgvsp: ENSP00000414960.1:p.Asp17Gly
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000406880
  ensembl transcript: ENST00000412868
  gene symbol: SGOL1
  hgvsc: ENST00000412868.1:c.50A>G
  hgvsp: ENSP00000406880.1:p.Asp17Gly
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000404562
  ensembl transcript: ENST00000429446
  gene symbol: SGOL1
  hgvsc: ENST00000429446.3:c.50A>G
  hgvsp: ENSP00000404562.3:p.Asp17Gly
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000389034
  ensembl transcript: ENST00000437051
  gene symbol: SGOL1
  hgvsc: ENST00000437051.1:c.50A>G
  hgvsp: ENSP00000389034.1:p.Asp17Gly
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000411200
  ensembl transcript: ENST00000452020
  gene symbol: SGOL1
  hgvsc: ENST00000452020.1:c.50A>G
  hgvsp: ENSP00000411200.1:p.Asp17Gly
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000410458
  ensembl transcript: ENST00000412997
  gene symbol: SGOL1
  hgvsc: ENST00000412997.1:c.50A>G
  hgvsp: ENSP00000410458.1:p.Asp17Gly
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000413070
  ensembl transcript: ENST00000443724
  gene symbol: SGOL1
  hgvsc: ENST00000443724.1:c.50A>G
  hgvsp: ENSP00000413070.1:p.Asp17Gly
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000448208
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000448208.1:n.367-1997T>C
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394625
  ensembl transcript: ENST00000419233
  gene symbol: SGOL1
  hgvsc: ENST00000419233.2:c.50A>G
  hgvsp: ENSP00000394625.2:p.Asp17Gly
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000263753
  ensembl transcript: ENST00000263753
  gene symbol: SGOL1
  hgvsc: ENST00000263753.4:c.50A>G
  hgvsp: ENSP00000263753.4:p.Asp17Gly
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414129
  ensembl transcript: ENST00000421451
  gene symbol: SGOL1
  hgvsc: ENST00000421451.1:c.50A>G
  hgvsp: ENSP00000414129.1:p.Asp17Gly
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000397672
  ensembl transcript: ENST00000456624
  gene symbol: SGOL1
  hgvsc: ENST00000456624.1:c.50A>G
  hgvsp: ENSP00000397672.1:p.Asp17Gly
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394957
  ensembl transcript: ENST00000442720
  gene symbol: SGOL1
  hgvsc: ENST00000442720.1:c.50A>G
  hgvsp: ENSP00000394957.1:p.Asp17Gly
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000441442
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000441442.1:n.359-1997T>C
  variant of: http://identifiers.org/hgnc/41081
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14040
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp17Gly
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD

3-20225473-TCAAGACTATCTTGAAAGGAC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20225473
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 20225453
    reference: chr 3
allele count: 1
allele frequency: 8.250688932525866e-6
allele num: 121202
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000441442
  gene symbol: SGOL1-AS1
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000397672
  ensembl transcript: ENST00000456624
  gene symbol: SGOL1
  hgvsp: ENSP00000397672.1:p.Ser10ArgfsTer12
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000263753
  ensembl transcript: ENST00000263753
  gene symbol: SGOL1
  hgvsp: ENSP00000263753.4:p.Ser10ArgfsTer12
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000413070
  ensembl transcript: ENST00000443724
  gene symbol: SGOL1
  hgvsp: ENSP00000413070.1:p.Ser10ArgfsTer12
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414129
  ensembl transcript: ENST00000421451
  gene symbol: SGOL1
  hgvsp: ENSP00000414129.1:p.Ser10ArgfsTer12
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000404562
  ensembl transcript: ENST00000429446
  gene symbol: SGOL1
  hgvsp: ENSP00000404562.3:p.Ser10ArgfsTer12
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000406880
  ensembl transcript: ENST00000412868
  gene symbol: SGOL1
  hgvsp: ENSP00000406880.1:p.Ser10ArgfsTer12
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000411200
  ensembl transcript: ENST00000452020
  gene symbol: SGOL1
  hgvsp: ENSP00000411200.1:p.Ser10ArgfsTer12
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000389034
  ensembl transcript: ENST00000437051
  gene symbol: SGOL1
  hgvsp: ENSP00000389034.1:p.Ser10ArgfsTer12
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000306581
  ensembl transcript: ENST00000306698
  gene symbol: SGOL1
  hgvsp: ENSP00000306581.2:p.Ser10ArgfsTer12
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414960
  ensembl transcript: ENST00000425061
  gene symbol: SGOL1
  hgvsp: ENSP00000414960.1:p.Ser10ArgfsTer12
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394625
  ensembl transcript: ENST00000419233
  gene symbol: SGOL1
  hgvsp: ENSP00000394625.2:p.Ser10ArgfsTer12
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394957
  ensembl transcript: ENST00000442720
  gene symbol: SGOL1
  hgvsp: ENSP00000394957.1:p.Ser10ArgfsTer12
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000448208
  gene symbol: SGOL1-AS1
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394613
  ensembl transcript: ENST00000417364
  gene symbol: SGOL1
  hgvsp: ENSP00000394613.1:p.Ser10ArgfsTer12
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000373284
  ensembl transcript: ENST00000383774
  gene symbol: SGOL1
  hgvsp: ENSP00000373284.1:p.Ser10ArgfsTer12
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000410458
  ensembl transcript: ENST00000412997
  gene symbol: SGOL1
  hgvsp: ENSP00000410458.1:p.Ser10ArgfsTer12
  variant of: http://identifiers.org/hgnc/25088
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 2468
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10913
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ser10ArgfsTer12
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: TCAAGACTATCTTGAAAGGAC
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum

3-20225474-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20225474
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 20225474
    reference: chr 3
allele count: 1
allele frequency: 8.251097395953662e-6
allele num: 121196
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000373284
  ensembl transcript: ENST00000383774
  gene symbol: SGOL1
  hgvsc: ENST00000383774.1:c.46G>A
  hgvsp: ENSP00000373284.1:p.Glu16Lys
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414129
  ensembl transcript: ENST00000421451
  gene symbol: SGOL1
  hgvsc: ENST00000421451.1:c.46G>A
  hgvsp: ENSP00000414129.1:p.Glu16Lys
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000306581
  ensembl transcript: ENST00000306698
  gene symbol: SGOL1
  hgvsc: ENST00000306698.2:c.46G>A
  hgvsp: ENSP00000306581.2:p.Glu16Lys
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000389034
  ensembl transcript: ENST00000437051
  gene symbol: SGOL1
  hgvsc: ENST00000437051.1:c.46G>A
  hgvsp: ENSP00000389034.1:p.Glu16Lys
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000411200
  ensembl transcript: ENST00000452020
  gene symbol: SGOL1
  hgvsc: ENST00000452020.1:c.46G>A
  hgvsp: ENSP00000411200.1:p.Glu16Lys
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394613
  ensembl transcript: ENST00000417364
  gene symbol: SGOL1
  hgvsc: ENST00000417364.1:c.46G>A
  hgvsp: ENSP00000394613.1:p.Glu16Lys
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000397672
  ensembl transcript: ENST00000456624
  gene symbol: SGOL1
  hgvsc: ENST00000456624.1:c.46G>A
  hgvsp: ENSP00000397672.1:p.Glu16Lys
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394957
  ensembl transcript: ENST00000442720
  gene symbol: SGOL1
  hgvsc: ENST00000442720.1:c.46G>A
  hgvsp: ENSP00000394957.1:p.Glu16Lys
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000413070
  ensembl transcript: ENST00000443724
  gene symbol: SGOL1
  hgvsc: ENST00000443724.1:c.46G>A
  hgvsp: ENSP00000413070.1:p.Glu16Lys
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000404562
  ensembl transcript: ENST00000429446
  gene symbol: SGOL1
  hgvsc: ENST00000429446.3:c.46G>A
  hgvsp: ENSP00000404562.3:p.Glu16Lys
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394625
  ensembl transcript: ENST00000419233
  gene symbol: SGOL1
  hgvsc: ENST00000419233.2:c.46G>A
  hgvsp: ENSP00000394625.2:p.Glu16Lys
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414960
  ensembl transcript: ENST00000425061
  gene symbol: SGOL1
  hgvsc: ENST00000425061.1:c.46G>A
  hgvsp: ENSP00000414960.1:p.Glu16Lys
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000406880
  ensembl transcript: ENST00000412868
  gene symbol: SGOL1
  hgvsc: ENST00000412868.1:c.46G>A
  hgvsp: ENSP00000406880.1:p.Glu16Lys
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000263753
  ensembl transcript: ENST00000263753
  gene symbol: SGOL1
  hgvsc: ENST00000263753.4:c.46G>A
  hgvsp: ENSP00000263753.4:p.Glu16Lys
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000441442
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000441442.1:n.359-1993C>T
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000410458
  ensembl transcript: ENST00000412997
  gene symbol: SGOL1
  hgvsc: ENST00000412997.1:c.46G>A
  hgvsp: ENSP00000410458.1:p.Glu16Lys
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000448208
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000448208.1:n.367-1993C>T
  variant of: http://identifiers.org/hgnc/41081
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23425
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu16Lys
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum

3-20225478-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20225478
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 20225478
    reference: chr 3
allele count: 2
allele frequency: 1.650573574317075e-5
allele num: 121170
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394613
  ensembl transcript: ENST00000417364
  gene symbol: SGOL1
  hgvsc: ENST00000417364.1:c.42T>A
  hgvsp: ENSP00000394613.1:p.Ser14Arg
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414960
  ensembl transcript: ENST00000425061
  gene symbol: SGOL1
  hgvsc: ENST00000425061.1:c.42T>A
  hgvsp: ENSP00000414960.1:p.Ser14Arg
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000404562
  ensembl transcript: ENST00000429446
  gene symbol: SGOL1
  hgvsc: ENST00000429446.3:c.42T>A
  hgvsp: ENSP00000404562.3:p.Ser14Arg
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000406880
  ensembl transcript: ENST00000412868
  gene symbol: SGOL1
  hgvsc: ENST00000412868.1:c.42T>A
  hgvsp: ENSP00000406880.1:p.Ser14Arg
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394957
  ensembl transcript: ENST00000442720
  gene symbol: SGOL1
  hgvsc: ENST00000442720.1:c.42T>A
  hgvsp: ENSP00000394957.1:p.Ser14Arg
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000263753
  ensembl transcript: ENST00000263753
  gene symbol: SGOL1
  hgvsc: ENST00000263753.4:c.42T>A
  hgvsp: ENSP00000263753.4:p.Ser14Arg
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000373284
  ensembl transcript: ENST00000383774
  gene symbol: SGOL1
  hgvsc: ENST00000383774.1:c.42T>A
  hgvsp: ENSP00000373284.1:p.Ser14Arg
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394625
  ensembl transcript: ENST00000419233
  gene symbol: SGOL1
  hgvsc: ENST00000419233.2:c.42T>A
  hgvsp: ENSP00000394625.2:p.Ser14Arg
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000389034
  ensembl transcript: ENST00000437051
  gene symbol: SGOL1
  hgvsc: ENST00000437051.1:c.42T>A
  hgvsp: ENSP00000389034.1:p.Ser14Arg
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414129
  ensembl transcript: ENST00000421451
  gene symbol: SGOL1
  hgvsc: ENST00000421451.1:c.42T>A
  hgvsp: ENSP00000414129.1:p.Ser14Arg
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000411200
  ensembl transcript: ENST00000452020
  gene symbol: SGOL1
  hgvsc: ENST00000452020.1:c.42T>A
  hgvsp: ENSP00000411200.1:p.Ser14Arg
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000410458
  ensembl transcript: ENST00000412997
  gene symbol: SGOL1
  hgvsc: ENST00000412997.1:c.42T>A
  hgvsp: ENSP00000410458.1:p.Ser14Arg
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000413070
  ensembl transcript: ENST00000443724
  gene symbol: SGOL1
  hgvsc: ENST00000443724.1:c.42T>A
  hgvsp: ENSP00000413070.1:p.Ser14Arg
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000306581
  ensembl transcript: ENST00000306698
  gene symbol: SGOL1
  hgvsc: ENST00000306698.2:c.42T>A
  hgvsp: ENSP00000306581.2:p.Ser14Arg
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000448208
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000448208.1:n.367-1989A>T
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000397672
  ensembl transcript: ENST00000456624
  gene symbol: SGOL1
  hgvsc: ENST00000456624.1:c.42T>A
  hgvsp: ENSP00000397672.1:p.Ser14Arg
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000441442
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000441442.1:n.359-1989A>T
  variant of: http://identifiers.org/hgnc/41081
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser14Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

3-20225488-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20225488
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 20225488
    reference: chr 3
allele count: 1
allele frequency: 8.258047467256841e-6
allele num: 121094
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000373284
  ensembl transcript: ENST00000383774
  gene symbol: SGOL1
  hgvsc: ENST00000383774.1:c.32T>C
  hgvsp: ENSP00000373284.1:p.Phe11Ser
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000306581
  ensembl transcript: ENST00000306698
  gene symbol: SGOL1
  hgvsc: ENST00000306698.2:c.32T>C
  hgvsp: ENSP00000306581.2:p.Phe11Ser
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000410458
  ensembl transcript: ENST00000412997
  gene symbol: SGOL1
  hgvsc: ENST00000412997.1:c.32T>C
  hgvsp: ENSP00000410458.1:p.Phe11Ser
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000413070
  ensembl transcript: ENST00000443724
  gene symbol: SGOL1
  hgvsc: ENST00000443724.1:c.32T>C
  hgvsp: ENSP00000413070.1:p.Phe11Ser
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394625
  ensembl transcript: ENST00000419233
  gene symbol: SGOL1
  hgvsc: ENST00000419233.2:c.32T>C
  hgvsp: ENSP00000394625.2:p.Phe11Ser
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000404562
  ensembl transcript: ENST00000429446
  gene symbol: SGOL1
  hgvsc: ENST00000429446.3:c.32T>C
  hgvsp: ENSP00000404562.3:p.Phe11Ser
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000389034
  ensembl transcript: ENST00000437051
  gene symbol: SGOL1
  hgvsc: ENST00000437051.1:c.32T>C
  hgvsp: ENSP00000389034.1:p.Phe11Ser
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000406880
  ensembl transcript: ENST00000412868
  gene symbol: SGOL1
  hgvsc: ENST00000412868.1:c.32T>C
  hgvsp: ENSP00000406880.1:p.Phe11Ser
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414129
  ensembl transcript: ENST00000421451
  gene symbol: SGOL1
  hgvsc: ENST00000421451.1:c.32T>C
  hgvsp: ENSP00000414129.1:p.Phe11Ser
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000441442
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000441442.1:n.359-1979A>G
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000448208
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000448208.1:n.367-1979A>G
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394957
  ensembl transcript: ENST00000442720
  gene symbol: SGOL1
  hgvsc: ENST00000442720.1:c.32T>C
  hgvsp: ENSP00000394957.1:p.Phe11Ser
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394613
  ensembl transcript: ENST00000417364
  gene symbol: SGOL1
  hgvsc: ENST00000417364.1:c.32T>C
  hgvsp: ENSP00000394613.1:p.Phe11Ser
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000397672
  ensembl transcript: ENST00000456624
  gene symbol: SGOL1
  hgvsc: ENST00000456624.1:c.32T>C
  hgvsp: ENSP00000397672.1:p.Phe11Ser
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000263753
  ensembl transcript: ENST00000263753
  gene symbol: SGOL1
  hgvsc: ENST00000263753.4:c.32T>C
  hgvsp: ENSP00000263753.4:p.Phe11Ser
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000411200
  ensembl transcript: ENST00000452020
  gene symbol: SGOL1
  hgvsc: ENST00000452020.1:c.32T>C
  hgvsp: ENSP00000411200.1:p.Phe11Ser
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414960
  ensembl transcript: ENST00000425061
  gene symbol: SGOL1
  hgvsc: ENST00000425061.1:c.32T>C
  hgvsp: ENSP00000414960.1:p.Phe11Ser
  variant of: http://identifiers.org/hgnc/25088
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4903
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23392
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe11Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

3-20225489-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20225489
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 20225489
    reference: chr 3
allele count: 2
allele frequency: 1.65188231990353e-5
allele num: 121074
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000406880
  ensembl transcript: ENST00000412868
  gene symbol: SGOL1
  hgvsc: ENST00000412868.1:c.31T>C
  hgvsp: ENSP00000406880.1:p.Phe11Leu
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414129
  ensembl transcript: ENST00000421451
  gene symbol: SGOL1
  hgvsc: ENST00000421451.1:c.31T>C
  hgvsp: ENSP00000414129.1:p.Phe11Leu
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000306581
  ensembl transcript: ENST00000306698
  gene symbol: SGOL1
  hgvsc: ENST00000306698.2:c.31T>C
  hgvsp: ENSP00000306581.2:p.Phe11Leu
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394613
  ensembl transcript: ENST00000417364
  gene symbol: SGOL1
  hgvsc: ENST00000417364.1:c.31T>C
  hgvsp: ENSP00000394613.1:p.Phe11Leu
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394625
  ensembl transcript: ENST00000419233
  gene symbol: SGOL1
  hgvsc: ENST00000419233.2:c.31T>C
  hgvsp: ENSP00000394625.2:p.Phe11Leu
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000411200
  ensembl transcript: ENST00000452020
  gene symbol: SGOL1
  hgvsc: ENST00000452020.1:c.31T>C
  hgvsp: ENSP00000411200.1:p.Phe11Leu
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000263753
  ensembl transcript: ENST00000263753
  gene symbol: SGOL1
  hgvsc: ENST00000263753.4:c.31T>C
  hgvsp: ENSP00000263753.4:p.Phe11Leu
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000448208
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000448208.1:n.367-1978A>G
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000410458
  ensembl transcript: ENST00000412997
  gene symbol: SGOL1
  hgvsc: ENST00000412997.1:c.31T>C
  hgvsp: ENSP00000410458.1:p.Phe11Leu
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000397672
  ensembl transcript: ENST00000456624
  gene symbol: SGOL1
  hgvsc: ENST00000456624.1:c.31T>C
  hgvsp: ENSP00000397672.1:p.Phe11Leu
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414960
  ensembl transcript: ENST00000425061
  gene symbol: SGOL1
  hgvsc: ENST00000425061.1:c.31T>C
  hgvsp: ENSP00000414960.1:p.Phe11Leu
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000404562
  ensembl transcript: ENST00000429446
  gene symbol: SGOL1
  hgvsc: ENST00000429446.3:c.31T>C
  hgvsp: ENSP00000404562.3:p.Phe11Leu
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000373284
  ensembl transcript: ENST00000383774
  gene symbol: SGOL1
  hgvsc: ENST00000383774.1:c.31T>C
  hgvsp: ENSP00000373284.1:p.Phe11Leu
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000389034
  ensembl transcript: ENST00000437051
  gene symbol: SGOL1
  hgvsc: ENST00000437051.1:c.31T>C
  hgvsp: ENSP00000389034.1:p.Phe11Leu
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000441442
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000441442.1:n.359-1978A>G
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394957
  ensembl transcript: ENST00000442720
  gene symbol: SGOL1
  hgvsc: ENST00000442720.1:c.31T>C
  hgvsp: ENSP00000394957.1:p.Phe11Leu
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000413070
  ensembl transcript: ENST00000443724
  gene symbol: SGOL1
  hgvsc: ENST00000443724.1:c.31T>C
  hgvsp: ENSP00000413070.1:p.Phe11Leu
  variant of: http://identifiers.org/hgnc/25088
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23388
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe11Leu
num of homozygotes: 1
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD

3-20225490-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20225490
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 20225490
    reference: chr 3
allele count: 1
allele frequency: 8.260776182530111e-6
allele num: 121054
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000263753
  ensembl transcript: ENST00000263753
  gene symbol: SGOL1
  hgvsc: ENST00000263753.4:c.30C>T
  hgvsp: ENST00000263753.4:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394957
  ensembl transcript: ENST00000442720
  gene symbol: SGOL1
  hgvsc: ENST00000442720.1:c.30C>T
  hgvsp: ENST00000442720.1:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000373284
  ensembl transcript: ENST00000383774
  gene symbol: SGOL1
  hgvsc: ENST00000383774.1:c.30C>T
  hgvsp: ENST00000383774.1:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000448208
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000448208.1:n.367-1977G>A
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000406880
  ensembl transcript: ENST00000412868
  gene symbol: SGOL1
  hgvsc: ENST00000412868.1:c.30C>T
  hgvsp: ENST00000412868.1:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000410458
  ensembl transcript: ENST00000412997
  gene symbol: SGOL1
  hgvsc: ENST00000412997.1:c.30C>T
  hgvsp: ENST00000412997.1:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414129
  ensembl transcript: ENST00000421451
  gene symbol: SGOL1
  hgvsc: ENST00000421451.1:c.30C>T
  hgvsp: ENST00000421451.1:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000441442
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000441442.1:n.359-1977G>A
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000306581
  ensembl transcript: ENST00000306698
  gene symbol: SGOL1
  hgvsc: ENST00000306698.2:c.30C>T
  hgvsp: ENST00000306698.2:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000397672
  ensembl transcript: ENST00000456624
  gene symbol: SGOL1
  hgvsc: ENST00000456624.1:c.30C>T
  hgvsp: ENST00000456624.1:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394613
  ensembl transcript: ENST00000417364
  gene symbol: SGOL1
  hgvsc: ENST00000417364.1:c.30C>T
  hgvsp: ENST00000417364.1:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000404562
  ensembl transcript: ENST00000429446
  gene symbol: SGOL1
  hgvsc: ENST00000429446.3:c.30C>T
  hgvsp: ENST00000429446.3:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414960
  ensembl transcript: ENST00000425061
  gene symbol: SGOL1
  hgvsc: ENST00000425061.1:c.30C>T
  hgvsp: ENST00000425061.1:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000389034
  ensembl transcript: ENST00000437051
  gene symbol: SGOL1
  hgvsc: ENST00000437051.1:c.30C>T
  hgvsp: ENST00000437051.1:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000411200
  ensembl transcript: ENST00000452020
  gene symbol: SGOL1
  hgvsc: ENST00000452020.1:c.30C>T
  hgvsp: ENST00000452020.1:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000413070
  ensembl transcript: ENST00000443724
  gene symbol: SGOL1
  hgvsc: ENST00000443724.1:c.30C>T
  hgvsp: ENST00000443724.1:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394625
  ensembl transcript: ENST00000419233
  gene symbol: SGOL1
  hgvsc: ENST00000419233.2:c.30C>T
  hgvsp: ENST00000419233.2:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13996
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4892
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser10Ser
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

3-20225490-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20225490
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 20225490
    reference: chr 3
allele count: 247
allele frequency: 2.040411717084937e-3
allele num: 121054
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414129
  ensembl transcript: ENST00000421451
  gene symbol: SGOL1
  hgvsc: ENST00000421451.1:c.30C>A
  hgvsp: ENST00000421451.1:c.30C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000397672
  ensembl transcript: ENST00000456624
  gene symbol: SGOL1
  hgvsc: ENST00000456624.1:c.30C>A
  hgvsp: ENST00000456624.1:c.30C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000404562
  ensembl transcript: ENST00000429446
  gene symbol: SGOL1
  hgvsc: ENST00000429446.3:c.30C>A
  hgvsp: ENST00000429446.3:c.30C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000263753
  ensembl transcript: ENST00000263753
  gene symbol: SGOL1
  hgvsc: ENST00000263753.4:c.30C>A
  hgvsp: ENST00000263753.4:c.30C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000448208
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000448208.1:n.367-1977G>T
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394957
  ensembl transcript: ENST00000442720
  gene symbol: SGOL1
  hgvsc: ENST00000442720.1:c.30C>A
  hgvsp: ENST00000442720.1:c.30C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000406880
  ensembl transcript: ENST00000412868
  gene symbol: SGOL1
  hgvsc: ENST00000412868.1:c.30C>A
  hgvsp: ENST00000412868.1:c.30C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000389034
  ensembl transcript: ENST00000437051
  gene symbol: SGOL1
  hgvsc: ENST00000437051.1:c.30C>A
  hgvsp: ENST00000437051.1:c.30C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000410458
  ensembl transcript: ENST00000412997
  gene symbol: SGOL1
  hgvsc: ENST00000412997.1:c.30C>A
  hgvsp: ENST00000412997.1:c.30C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000411200
  ensembl transcript: ENST00000452020
  gene symbol: SGOL1
  hgvsc: ENST00000452020.1:c.30C>A
  hgvsp: ENST00000452020.1:c.30C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000306581
  ensembl transcript: ENST00000306698
  gene symbol: SGOL1
  hgvsc: ENST00000306698.2:c.30C>A
  hgvsp: ENST00000306698.2:c.30C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394613
  ensembl transcript: ENST00000417364
  gene symbol: SGOL1
  hgvsc: ENST00000417364.1:c.30C>A
  hgvsp: ENST00000417364.1:c.30C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000373284
  ensembl transcript: ENST00000383774
  gene symbol: SGOL1
  hgvsc: ENST00000383774.1:c.30C>A
  hgvsp: ENST00000383774.1:c.30C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414960
  ensembl transcript: ENST00000425061
  gene symbol: SGOL1
  hgvsc: ENST00000425061.1:c.30C>A
  hgvsp: ENST00000425061.1:c.30C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394625
  ensembl transcript: ENST00000419233
  gene symbol: SGOL1
  hgvsc: ENST00000419233.2:c.30C>A
  hgvsp: ENST00000419233.2:c.30C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000413070
  ensembl transcript: ENST00000443724
  gene symbol: SGOL1
  hgvsc: ENST00000443724.1:c.30C>A
  hgvsp: ENST00000443724.1:c.30C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000441442
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000441442.1:n.359-1977G>T
  variant of: http://identifiers.org/hgnc/41081
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4892
  bin: 3.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23338
  bin: 2.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
hgvs: p.Ser10Ser
num of homozygotes: 2
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/3-20225499-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20225499
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 20225498
    reference: chr 3
allele count: 1
allele frequency: 8.270614506657845e-6
allele num: 120910
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000397672
  ensembl transcript: ENST00000456624
  gene symbol: SGOL1
  hgvsc: ENST00000456624.1:c.20delT
  hgvsp: ENSP00000397672.1:p.Leu7ArgfsTer12
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414129
  ensembl transcript: ENST00000421451
  gene symbol: SGOL1
  hgvsc: ENST00000421451.1:c.20delT
  hgvsp: ENSP00000414129.1:p.Leu7ArgfsTer12
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394957
  ensembl transcript: ENST00000442720
  gene symbol: SGOL1
  hgvsc: ENST00000442720.1:c.20delT
  hgvsp: ENSP00000394957.1:p.Leu7ArgfsTer12
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000404562
  ensembl transcript: ENST00000429446
  gene symbol: SGOL1
  hgvsc: ENST00000429446.3:c.20delT
  hgvsp: ENSP00000404562.3:p.Leu7ArgfsTer12
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000406880
  ensembl transcript: ENST00000412868
  gene symbol: SGOL1
  hgvsc: ENST00000412868.1:c.20delT
  hgvsp: ENSP00000406880.1:p.Leu7ArgfsTer12
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000413070
  ensembl transcript: ENST00000443724
  gene symbol: SGOL1
  hgvsc: ENST00000443724.1:c.20delT
  hgvsp: ENSP00000413070.1:p.Leu7ArgfsTer12
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000373284
  ensembl transcript: ENST00000383774
  gene symbol: SGOL1
  hgvsc: ENST00000383774.1:c.20delT
  hgvsp: ENSP00000373284.1:p.Leu7ArgfsTer12
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000263753
  ensembl transcript: ENST00000263753
  gene symbol: SGOL1
  hgvsc: ENST00000263753.4:c.20delT
  hgvsp: ENSP00000263753.4:p.Leu7ArgfsTer12
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394625
  ensembl transcript: ENST00000419233
  gene symbol: SGOL1
  hgvsc: ENST00000419233.2:c.20delT
  hgvsp: ENSP00000394625.2:p.Leu7ArgfsTer12
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394613
  ensembl transcript: ENST00000417364
  gene symbol: SGOL1
  hgvsc: ENST00000417364.1:c.20delT
  hgvsp: ENSP00000394613.1:p.Leu7ArgfsTer12
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000441442
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000441442.1:n.359-1967delA
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414960
  ensembl transcript: ENST00000425061
  gene symbol: SGOL1
  hgvsc: ENST00000425061.1:c.20delT
  hgvsp: ENSP00000414960.1:p.Leu7ArgfsTer12
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000306581
  ensembl transcript: ENST00000306698
  gene symbol: SGOL1
  hgvsc: ENST00000306698.2:c.20delT
  hgvsp: ENSP00000306581.2:p.Leu7ArgfsTer12
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000411200
  ensembl transcript: ENST00000452020
  gene symbol: SGOL1
  hgvsc: ENST00000452020.1:c.20delT
  hgvsp: ENSP00000411200.1:p.Leu7ArgfsTer12
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000448208
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000448208.1:n.367-1967delA
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000389034
  ensembl transcript: ENST00000437051
  gene symbol: SGOL1
  hgvsc: ENST00000437051.1:c.20delT
  hgvsp: ENSP00000389034.1:p.Leu7ArgfsTer12
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000410458
  ensembl transcript: ENST00000412997
  gene symbol: SGOL1
  hgvsc: ENST00000412997.1:c.20delT
  hgvsp: ENSP00000410458.1:p.Leu7ArgfsTer12
  variant of: http://identifiers.org/hgnc/25088
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10650
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4901
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu7ArgfsTer12
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: CA
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS

3-20225505-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20225505
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 20225505
    reference: chr 3
allele count: 1
allele frequency: 8.281162012653616e-6
allele num: 120756
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000448208
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000448208.1:n.367-1962T>A
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000389034
  ensembl transcript: ENST00000437051
  gene symbol: SGOL1
  hgvsc: ENST00000437051.1:c.15A>T
  hgvsp: ENSP00000389034.1:p.Arg5Ser
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414960
  ensembl transcript: ENST00000425061
  gene symbol: SGOL1
  hgvsc: ENST00000425061.1:c.15A>T
  hgvsp: ENSP00000414960.1:p.Arg5Ser
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000441442
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000441442.1:n.359-1962T>A
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000410458
  ensembl transcript: ENST00000412997
  gene symbol: SGOL1
  hgvsc: ENST00000412997.1:c.15A>T
  hgvsp: ENSP00000410458.1:p.Arg5Ser
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394957
  ensembl transcript: ENST00000442720
  gene symbol: SGOL1
  hgvsc: ENST00000442720.1:c.15A>T
  hgvsp: ENSP00000394957.1:p.Arg5Ser
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394625
  ensembl transcript: ENST00000419233
  gene symbol: SGOL1
  hgvsc: ENST00000419233.2:c.15A>T
  hgvsp: ENSP00000394625.2:p.Arg5Ser
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000373284
  ensembl transcript: ENST00000383774
  gene symbol: SGOL1
  hgvsc: ENST00000383774.1:c.15A>T
  hgvsp: ENSP00000373284.1:p.Arg5Ser
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414129
  ensembl transcript: ENST00000421451
  gene symbol: SGOL1
  hgvsc: ENST00000421451.1:c.15A>T
  hgvsp: ENSP00000414129.1:p.Arg5Ser
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000306581
  ensembl transcript: ENST00000306698
  gene symbol: SGOL1
  hgvsc: ENST00000306698.2:c.15A>T
  hgvsp: ENSP00000306581.2:p.Arg5Ser
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000406880
  ensembl transcript: ENST00000412868
  gene symbol: SGOL1
  hgvsc: ENST00000412868.1:c.15A>T
  hgvsp: ENSP00000406880.1:p.Arg5Ser
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000263753
  ensembl transcript: ENST00000263753
  gene symbol: SGOL1
  hgvsc: ENST00000263753.4:c.15A>T
  hgvsp: ENSP00000263753.4:p.Arg5Ser
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000413070
  ensembl transcript: ENST00000443724
  gene symbol: SGOL1
  hgvsc: ENST00000443724.1:c.15A>T
  hgvsp: ENSP00000413070.1:p.Arg5Ser
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000411200
  ensembl transcript: ENST00000452020
  gene symbol: SGOL1
  hgvsc: ENST00000452020.1:c.15A>T
  hgvsp: ENSP00000411200.1:p.Arg5Ser
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394613
  ensembl transcript: ENST00000417364
  gene symbol: SGOL1
  hgvsc: ENST00000417364.1:c.15A>T
  hgvsp: ENSP00000394613.1:p.Arg5Ser
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000397672
  ensembl transcript: ENST00000456624
  gene symbol: SGOL1
  hgvsc: ENST00000456624.1:c.15A>T
  hgvsp: ENSP00000397672.1:p.Arg5Ser
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000404562
  ensembl transcript: ENST00000429446
  gene symbol: SGOL1
  hgvsc: ENST00000429446.3:c.15A>T
  hgvsp: ENSP00000404562.3:p.Arg5Ser
  variant of: http://identifiers.org/hgnc/25088
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg5Ser
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum

3-20225507-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20225507
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 20225507
    reference: chr 3
allele count: 1
allele frequency: 8.284317786430287e-6
allele num: 120710
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394957
  ensembl transcript: ENST00000442720
  gene symbol: SGOL1
  hgvsc: ENST00000442720.1:c.13A>G
  hgvsp: ENSP00000394957.1:p.Arg5Gly
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414129
  ensembl transcript: ENST00000421451
  gene symbol: SGOL1
  hgvsc: ENST00000421451.1:c.13A>G
  hgvsp: ENSP00000414129.1:p.Arg5Gly
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000410458
  ensembl transcript: ENST00000412997
  gene symbol: SGOL1
  hgvsc: ENST00000412997.1:c.13A>G
  hgvsp: ENSP00000410458.1:p.Arg5Gly
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000404562
  ensembl transcript: ENST00000429446
  gene symbol: SGOL1
  hgvsc: ENST00000429446.3:c.13A>G
  hgvsp: ENSP00000404562.3:p.Arg5Gly
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000306581
  ensembl transcript: ENST00000306698
  gene symbol: SGOL1
  hgvsc: ENST00000306698.2:c.13A>G
  hgvsp: ENSP00000306581.2:p.Arg5Gly
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000406880
  ensembl transcript: ENST00000412868
  gene symbol: SGOL1
  hgvsc: ENST00000412868.1:c.13A>G
  hgvsp: ENSP00000406880.1:p.Arg5Gly
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394625
  ensembl transcript: ENST00000419233
  gene symbol: SGOL1
  hgvsc: ENST00000419233.2:c.13A>G
  hgvsp: ENSP00000394625.2:p.Arg5Gly
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000389034
  ensembl transcript: ENST00000437051
  gene symbol: SGOL1
  hgvsc: ENST00000437051.1:c.13A>G
  hgvsp: ENSP00000389034.1:p.Arg5Gly
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000373284
  ensembl transcript: ENST00000383774
  gene symbol: SGOL1
  hgvsc: ENST00000383774.1:c.13A>G
  hgvsp: ENSP00000373284.1:p.Arg5Gly
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000397672
  ensembl transcript: ENST00000456624
  gene symbol: SGOL1
  hgvsc: ENST00000456624.1:c.13A>G
  hgvsp: ENSP00000397672.1:p.Arg5Gly
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000411200
  ensembl transcript: ENST00000452020
  gene symbol: SGOL1
  hgvsc: ENST00000452020.1:c.13A>G
  hgvsp: ENSP00000411200.1:p.Arg5Gly
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000413070
  ensembl transcript: ENST00000443724
  gene symbol: SGOL1
  hgvsc: ENST00000443724.1:c.13A>G
  hgvsp: ENSP00000413070.1:p.Arg5Gly
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000263753
  ensembl transcript: ENST00000263753
  gene symbol: SGOL1
  hgvsc: ENST00000263753.4:c.13A>G
  hgvsp: ENSP00000263753.4:p.Arg5Gly
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414960
  ensembl transcript: ENST00000425061
  gene symbol: SGOL1
  hgvsc: ENST00000425061.1:c.13A>G
  hgvsp: ENSP00000414960.1:p.Arg5Gly
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394613
  ensembl transcript: ENST00000417364
  gene symbol: SGOL1
  hgvsc: ENST00000417364.1:c.13A>G
  hgvsp: ENSP00000394613.1:p.Arg5Gly
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000441442
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000441442.1:n.359-1960T>C
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000448208
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000448208.1:n.367-1960T>C
  variant of: http://identifiers.org/hgnc/41081
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg5Gly
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ

3-20225525-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20225525
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 20225525
    reference: chr 3
allele count: 1
allele frequency: 8.433694295449179e-6
allele num: 118572
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000263753
  ensembl transcript: ENST00000263753
  gene symbol: SGOL1
  hgvsc: ENST00000263753.4:c.-6C>T
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000441442
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000441442.1:n.359-1942G>A
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000404562
  ensembl transcript: ENST00000429446
  gene symbol: SGOL1
  hgvsc: ENST00000429446.3:c.-6C>T
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000373284
  ensembl transcript: ENST00000383774
  gene symbol: SGOL1
  hgvsc: ENST00000383774.1:c.-6C>T
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000406880
  ensembl transcript: ENST00000412868
  gene symbol: SGOL1
  hgvsc: ENST00000412868.1:c.-6C>T
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000411200
  ensembl transcript: ENST00000452020
  gene symbol: SGOL1
  hgvsc: ENST00000452020.1:c.-6C>T
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000410458
  ensembl transcript: ENST00000412997
  gene symbol: SGOL1
  hgvsc: ENST00000412997.1:c.-6C>T
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394625
  ensembl transcript: ENST00000419233
  gene symbol: SGOL1
  hgvsc: ENST00000419233.2:c.-6C>T
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414129
  ensembl transcript: ENST00000421451
  gene symbol: SGOL1
  hgvsc: ENST00000421451.1:c.-6C>T
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000389034
  ensembl transcript: ENST00000437051
  gene symbol: SGOL1
  hgvsc: ENST00000437051.1:c.-6C>T
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414960
  ensembl transcript: ENST00000425061
  gene symbol: SGOL1
  hgvsc: ENST00000425061.1:c.-6C>T
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000306581
  ensembl transcript: ENST00000306698
  gene symbol: SGOL1
  hgvsc: ENST00000306698.2:c.-6C>T
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394613
  ensembl transcript: ENST00000417364
  gene symbol: SGOL1
  hgvsc: ENST00000417364.1:c.-6C>T
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000413070
  ensembl transcript: ENST00000443724
  gene symbol: SGOL1
  hgvsc: ENST00000443724.1:c.-6C>T
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000448208
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000448208.1:n.367-1942G>A
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394957
  ensembl transcript: ENST00000442720
  gene symbol: SGOL1
  hgvsc: ENST00000442720.1:c.-6C>T
  variant of: http://identifiers.org/hgnc/25088
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2409
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.-6C>T
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

3-20225535-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20225535
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 20225535
    reference: chr 3
allele count: 26
allele frequency: 2.232526189249528e-4
allele num: 116460
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000448208
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000448208.1:n.367-1932T>C
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394957
  ensembl transcript: ENST00000442720
  gene symbol: SGOL1
  hgvsc: ENST00000442720.1:c.-7-9A>G
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000373284
  ensembl transcript: ENST00000383774
  gene symbol: SGOL1
  hgvsc: ENST00000383774.1:c.-7-9A>G
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414129
  ensembl transcript: ENST00000421451
  gene symbol: SGOL1
  hgvsc: ENST00000421451.1:c.-7-9A>G
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000410458
  ensembl transcript: ENST00000412997
  gene symbol: SGOL1
  hgvsc: ENST00000412997.1:c.-7-9A>G
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394625
  ensembl transcript: ENST00000419233
  gene symbol: SGOL1
  hgvsc: ENST00000419233.2:c.-7-9A>G
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000389034
  ensembl transcript: ENST00000437051
  gene symbol: SGOL1
  hgvsc: ENST00000437051.1:c.-7-9A>G
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394613
  ensembl transcript: ENST00000417364
  gene symbol: SGOL1
  hgvsc: ENST00000417364.1:c.-7-9A>G
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000263753
  ensembl transcript: ENST00000263753
  gene symbol: SGOL1
  hgvsc: ENST00000263753.4:c.-7-9A>G
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414960
  ensembl transcript: ENST00000425061
  gene symbol: SGOL1
  hgvsc: ENST00000425061.1:c.-7-9A>G
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000306581
  ensembl transcript: ENST00000306698
  gene symbol: SGOL1
  hgvsc: ENST00000306698.2:c.-7-9A>G
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000406880
  ensembl transcript: ENST00000412868
  gene symbol: SGOL1
  hgvsc: ENST00000412868.1:c.-7-9A>G
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000413070
  ensembl transcript: ENST00000443724
  gene symbol: SGOL1
  hgvsc: ENST00000443724.1:c.-7-9A>G
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000404562
  ensembl transcript: ENST00000429446
  gene symbol: SGOL1
  hgvsc: ENST00000429446.3:c.-7-9A>G
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000441442
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000441442.1:n.359-1932T>C
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000411200
  ensembl transcript: ENST00000452020
  gene symbol: SGOL1
  hgvsc: ENST00000452020.1:c.-7-9A>G
  variant of: http://identifiers.org/hgnc/25088
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7254
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12949
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21012
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4577
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ

3-20225540-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20225540
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 20225540
    reference: chr 3
allele count: 35
allele frequency: 3.023392419059466e-4
allele num: 115764
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414960
  ensembl transcript: ENST00000425061
  gene symbol: SGOL1
  hgvsc: ENST00000425061.1:c.-7-14T>A
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394613
  ensembl transcript: ENST00000417364
  gene symbol: SGOL1
  hgvsc: ENST00000417364.1:c.-7-14T>A
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394625
  ensembl transcript: ENST00000419233
  gene symbol: SGOL1
  hgvsc: ENST00000419233.2:c.-7-14T>A
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000404562
  ensembl transcript: ENST00000429446
  gene symbol: SGOL1
  hgvsc: ENST00000429446.3:c.-7-14T>A
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000406880
  ensembl transcript: ENST00000412868
  gene symbol: SGOL1
  hgvsc: ENST00000412868.1:c.-7-14T>A
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000441442
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000441442.1:n.359-1927A>T
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000306581
  ensembl transcript: ENST00000306698
  gene symbol: SGOL1
  hgvsc: ENST00000306698.2:c.-7-14T>A
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000448208
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000448208.1:n.367-1927A>T
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000389034
  ensembl transcript: ENST00000437051
  gene symbol: SGOL1
  hgvsc: ENST00000437051.1:c.-7-14T>A
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414129
  ensembl transcript: ENST00000421451
  gene symbol: SGOL1
  hgvsc: ENST00000421451.1:c.-7-14T>A
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000410458
  ensembl transcript: ENST00000412997
  gene symbol: SGOL1
  hgvsc: ENST00000412997.1:c.-7-14T>A
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000373284
  ensembl transcript: ENST00000383774
  gene symbol: SGOL1
  hgvsc: ENST00000383774.1:c.-7-14T>A
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000411200
  ensembl transcript: ENST00000452020
  gene symbol: SGOL1
  hgvsc: ENST00000452020.1:c.-7-14T>A
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000263753
  ensembl transcript: ENST00000263753
  gene symbol: SGOL1
  hgvsc: ENST00000263753.4:c.-7-14T>A
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000413070
  ensembl transcript: ENST00000443724
  gene symbol: SGOL1
  hgvsc: ENST00000443724.1:c.-7-14T>A
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394957
  ensembl transcript: ENST00000442720
  gene symbol: SGOL1
  hgvsc: ENST00000442720.1:c.-7-14T>A
  variant of: http://identifiers.org/hgnc/25088
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19926
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6370
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6223
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2222
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2287
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12669
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

3-20225543-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20225543
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 20225544
    reference: chr 3
allele count: 4
allele frequency: 3.476084538375973e-5
allele num: 115072
alternate allele: AT
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000263753
  ensembl transcript: ENST00000263753
  gene symbol: SGOL1
  hgvsc: ENST00000263753.4:c.-7-18dupA
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000411200
  ensembl transcript: ENST00000452020
  gene symbol: SGOL1
  hgvsc: ENST00000452020.1:c.-7-18dupA
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000410458
  ensembl transcript: ENST00000412997
  gene symbol: SGOL1
  hgvsc: ENST00000412997.1:c.-7-18dupA
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000389034
  ensembl transcript: ENST00000437051
  gene symbol: SGOL1
  hgvsc: ENST00000437051.1:c.-7-18dupA
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000413070
  ensembl transcript: ENST00000443724
  gene symbol: SGOL1
  hgvsc: ENST00000443724.1:c.-7-18dupA
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000448208
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000448208.1:n.367-1918dupT
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000441442
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000441442.1:n.359-1918dupT
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000306581
  ensembl transcript: ENST00000306698
  gene symbol: SGOL1
  hgvsc: ENST00000306698.2:c.-7-18dupA
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000373284
  ensembl transcript: ENST00000383774
  gene symbol: SGOL1
  hgvsc: ENST00000383774.1:c.-7-18dupA
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414960
  ensembl transcript: ENST00000425061
  gene symbol: SGOL1
  hgvsc: ENST00000425061.1:c.-7-18dupA
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394957
  ensembl transcript: ENST00000442720
  gene symbol: SGOL1
  hgvsc: ENST00000442720.1:c.-7-18dupA
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394625
  ensembl transcript: ENST00000419233
  gene symbol: SGOL1
  hgvsc: ENST00000419233.2:c.-7-18dupA
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000404562
  ensembl transcript: ENST00000429446
  gene symbol: SGOL1
  hgvsc: ENST00000429446.3:c.-7-18dupA
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000406880
  ensembl transcript: ENST00000412868
  gene symbol: SGOL1
  hgvsc: ENST00000412868.1:c.-7-18dupA
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394613
  ensembl transcript: ENST00000417364
  gene symbol: SGOL1
  hgvsc: ENST00000417364.1:c.-7-18dupA
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414129
  ensembl transcript: ENST00000421451
  gene symbol: SGOL1
  hgvsc: ENST00000421451.1:c.-7-18dupA
  variant of: http://identifiers.org/hgnc/25088
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 12244
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2315
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2421
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7991
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

3-20225551-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20225551
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 20225551
    reference: chr 3
allele count: 4
allele frequency: 3.529266441970036e-5
allele num: 113338
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000441442
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000441442.1:n.359-1916T>G
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000389034
  ensembl transcript: ENST00000437051
  gene symbol: SGOL1
  hgvsc: ENST00000437051.1:c.-7-25A>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000406880
  ensembl transcript: ENST00000412868
  gene symbol: SGOL1
  hgvsc: ENST00000412868.1:c.-7-25A>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000373284
  ensembl transcript: ENST00000383774
  gene symbol: SGOL1
  hgvsc: ENST00000383774.1:c.-7-25A>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000413070
  ensembl transcript: ENST00000443724
  gene symbol: SGOL1
  hgvsc: ENST00000443724.1:c.-7-25A>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394957
  ensembl transcript: ENST00000442720
  gene symbol: SGOL1
  hgvsc: ENST00000442720.1:c.-7-25A>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394625
  ensembl transcript: ENST00000419233
  gene symbol: SGOL1
  hgvsc: ENST00000419233.2:c.-7-25A>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414960
  ensembl transcript: ENST00000425061
  gene symbol: SGOL1
  hgvsc: ENST00000425061.1:c.-7-25A>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000263753
  ensembl transcript: ENST00000263753
  gene symbol: SGOL1
  hgvsc: ENST00000263753.4:c.-7-25A>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000411200
  ensembl transcript: ENST00000452020
  gene symbol: SGOL1
  hgvsc: ENST00000452020.1:c.-7-25A>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414129
  ensembl transcript: ENST00000421451
  gene symbol: SGOL1
  hgvsc: ENST00000421451.1:c.-7-25A>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000448208
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000448208.1:n.367-1916T>G
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000306581
  ensembl transcript: ENST00000306698
  gene symbol: SGOL1
  hgvsc: ENST00000306698.2:c.-7-25A>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000410458
  ensembl transcript: ENST00000412997
  gene symbol: SGOL1
  hgvsc: ENST00000412997.1:c.-7-25A>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000404562
  ensembl transcript: ENST00000429446
  gene symbol: SGOL1
  hgvsc: ENST00000429446.3:c.-7-25A>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394613
  ensembl transcript: ENST00000417364
  gene symbol: SGOL1
  hgvsc: ENST00000417364.1:c.-7-25A>C
  variant of: http://identifiers.org/hgnc/25088
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14633
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2821
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3951
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

3-20225552-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20225552
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 20225552
    reference: chr 3
allele count: 1
allele frequency: 8.834546611067921e-6
allele num: 113192
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000373284
  ensembl transcript: ENST00000383774
  gene symbol: SGOL1
  hgvsc: ENST00000383774.1:c.-7-26G>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000410458
  ensembl transcript: ENST00000412997
  gene symbol: SGOL1
  hgvsc: ENST00000412997.1:c.-7-26G>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414960
  ensembl transcript: ENST00000425061
  gene symbol: SGOL1
  hgvsc: ENST00000425061.1:c.-7-26G>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000389034
  ensembl transcript: ENST00000437051
  gene symbol: SGOL1
  hgvsc: ENST00000437051.1:c.-7-26G>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000441442
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000441442.1:n.359-1915C>G
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000404562
  ensembl transcript: ENST00000429446
  gene symbol: SGOL1
  hgvsc: ENST00000429446.3:c.-7-26G>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394625
  ensembl transcript: ENST00000419233
  gene symbol: SGOL1
  hgvsc: ENST00000419233.2:c.-7-26G>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000306581
  ensembl transcript: ENST00000306698
  gene symbol: SGOL1
  hgvsc: ENST00000306698.2:c.-7-26G>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394613
  ensembl transcript: ENST00000417364
  gene symbol: SGOL1
  hgvsc: ENST00000417364.1:c.-7-26G>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000263753
  ensembl transcript: ENST00000263753
  gene symbol: SGOL1
  hgvsc: ENST00000263753.4:c.-7-26G>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000406880
  ensembl transcript: ENST00000412868
  gene symbol: SGOL1
  hgvsc: ENST00000412868.1:c.-7-26G>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000411200
  ensembl transcript: ENST00000452020
  gene symbol: SGOL1
  hgvsc: ENST00000452020.1:c.-7-26G>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394957
  ensembl transcript: ENST00000442720
  gene symbol: SGOL1
  hgvsc: ENST00000442720.1:c.-7-26G>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000448208
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000448208.1:n.367-1915C>G
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000413070
  ensembl transcript: ENST00000443724
  gene symbol: SGOL1
  hgvsc: ENST00000443724.1:c.-7-26G>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414129
  ensembl transcript: ENST00000421451
  gene symbol: SGOL1
  hgvsc: ENST00000421451.1:c.-7-26G>C
  variant of: http://identifiers.org/hgnc/25088
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2831
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14628
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5869
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

3-20225552-CAGAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20225552
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 20225548
    reference: chr 3
allele count: 30
allele frequency: 2.650363983320376e-4
allele num: 113192
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414129
  ensembl transcript: ENST00000421451
  gene symbol: SGOL1
  hgvsc: ENST00000421451.1:c.-7-30_-7-27delCTCT
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000448208
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000448208.1:n.367-1911_367-1908delGAGA
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000373284
  ensembl transcript: ENST00000383774
  gene symbol: SGOL1
  hgvsc: ENST00000383774.1:c.-7-30_-7-27delCTCT
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000411200
  ensembl transcript: ENST00000452020
  gene symbol: SGOL1
  hgvsc: ENST00000452020.1:c.-7-30_-7-27delCTCT
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000306581
  ensembl transcript: ENST00000306698
  gene symbol: SGOL1
  hgvsc: ENST00000306698.2:c.-7-30_-7-27delCTCT
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394957
  ensembl transcript: ENST00000442720
  gene symbol: SGOL1
  hgvsc: ENST00000442720.1:c.-7-30_-7-27delCTCT
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000404562
  ensembl transcript: ENST00000429446
  gene symbol: SGOL1
  hgvsc: ENST00000429446.3:c.-7-30_-7-27delCTCT
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000406880
  ensembl transcript: ENST00000412868
  gene symbol: SGOL1
  hgvsc: ENST00000412868.1:c.-7-30_-7-27delCTCT
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000410458
  ensembl transcript: ENST00000412997
  gene symbol: SGOL1
  hgvsc: ENST00000412997.1:c.-7-30_-7-27delCTCT
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000441442
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000441442.1:n.359-1911_359-1908delGAGA
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394613
  ensembl transcript: ENST00000417364
  gene symbol: SGOL1
  hgvsc: ENST00000417364.1:c.-7-30_-7-27delCTCT
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394625
  ensembl transcript: ENST00000419233
  gene symbol: SGOL1
  hgvsc: ENST00000419233.2:c.-7-30_-7-27delCTCT
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000413070
  ensembl transcript: ENST00000443724
  gene symbol: SGOL1
  hgvsc: ENST00000443724.1:c.-7-30_-7-27delCTCT
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414960
  ensembl transcript: ENST00000425061
  gene symbol: SGOL1
  hgvsc: ENST00000425061.1:c.-7-30_-7-27delCTCT
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000263753
  ensembl transcript: ENST00000263753
  gene symbol: SGOL1
  hgvsc: ENST00000263753.4:c.-7-30_-7-27delCTCT
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000389034
  ensembl transcript: ENST00000437051
  gene symbol: SGOL1
  hgvsc: ENST00000437051.1:c.-7-30_-7-27delCTCT
  variant of: http://identifiers.org/hgnc/25088
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4286
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5869
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 10351
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10963
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2831
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3980
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2260
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: CAGAG
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ

3-20225554-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20225554
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 20225554
    reference: chr 3
allele count: 16
allele frequency: 1.421034868643089e-4
allele num: 112594
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414129
  ensembl transcript: ENST00000421451
  gene symbol: SGOL1
  hgvsc: ENST00000421451.1:c.-7-28C>A
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394613
  ensembl transcript: ENST00000417364
  gene symbol: SGOL1
  hgvsc: ENST00000417364.1:c.-7-28C>A
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000404562
  ensembl transcript: ENST00000429446
  gene symbol: SGOL1
  hgvsc: ENST00000429446.3:c.-7-28C>A
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000448208
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000448208.1:n.367-1913G>T
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394625
  ensembl transcript: ENST00000419233
  gene symbol: SGOL1
  hgvsc: ENST00000419233.2:c.-7-28C>A
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000263753
  ensembl transcript: ENST00000263753
  gene symbol: SGOL1
  hgvsc: ENST00000263753.4:c.-7-28C>A
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000410458
  ensembl transcript: ENST00000412997
  gene symbol: SGOL1
  hgvsc: ENST00000412997.1:c.-7-28C>A
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394957
  ensembl transcript: ENST00000442720
  gene symbol: SGOL1
  hgvsc: ENST00000442720.1:c.-7-28C>A
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000389034
  ensembl transcript: ENST00000437051
  gene symbol: SGOL1
  hgvsc: ENST00000437051.1:c.-7-28C>A
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000413070
  ensembl transcript: ENST00000443724
  gene symbol: SGOL1
  hgvsc: ENST00000443724.1:c.-7-28C>A
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000441442
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000441442.1:n.359-1913G>T
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000306581
  ensembl transcript: ENST00000306698
  gene symbol: SGOL1
  hgvsc: ENST00000306698.2:c.-7-28C>A
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000406880
  ensembl transcript: ENST00000412868
  gene symbol: SGOL1
  hgvsc: ENST00000412868.1:c.-7-28C>A
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000373284
  ensembl transcript: ENST00000383774
  gene symbol: SGOL1
  hgvsc: ENST00000383774.1:c.-7-28C>A
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000411200
  ensembl transcript: ENST00000452020
  gene symbol: SGOL1
  hgvsc: ENST00000452020.1:c.-7-28C>A
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414960
  ensembl transcript: ENST00000425061
  gene symbol: SGOL1
  hgvsc: ENST00000425061.1:c.-7-28C>A
  variant of: http://identifiers.org/hgnc/25088
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3032
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9780
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4203
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3782
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum

3-20225556-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20225556
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 20225556
    reference: chr 3
allele count: 1
allele frequency: 8.928252562408485e-6
allele num: 112004
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000404562
  ensembl transcript: ENST00000429446
  gene symbol: SGOL1
  hgvsc: ENST00000429446.3:c.-7-30C>G
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000263753
  ensembl transcript: ENST00000263753
  gene symbol: SGOL1
  hgvsc: ENST00000263753.4:c.-7-30C>G
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394625
  ensembl transcript: ENST00000419233
  gene symbol: SGOL1
  hgvsc: ENST00000419233.2:c.-7-30C>G
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000411200
  ensembl transcript: ENST00000452020
  gene symbol: SGOL1
  hgvsc: ENST00000452020.1:c.-7-30C>G
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000410458
  ensembl transcript: ENST00000412997
  gene symbol: SGOL1
  hgvsc: ENST00000412997.1:c.-7-30C>G
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000448208
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000448208.1:n.367-1911G>C
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414129
  ensembl transcript: ENST00000421451
  gene symbol: SGOL1
  hgvsc: ENST00000421451.1:c.-7-30C>G
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000306581
  ensembl transcript: ENST00000306698
  gene symbol: SGOL1
  hgvsc: ENST00000306698.2:c.-7-30C>G
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000406880
  ensembl transcript: ENST00000412868
  gene symbol: SGOL1
  hgvsc: ENST00000412868.1:c.-7-30C>G
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414960
  ensembl transcript: ENST00000425061
  gene symbol: SGOL1
  hgvsc: ENST00000425061.1:c.-7-30C>G
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000389034
  ensembl transcript: ENST00000437051
  gene symbol: SGOL1
  hgvsc: ENST00000437051.1:c.-7-30C>G
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394613
  ensembl transcript: ENST00000417364
  gene symbol: SGOL1
  hgvsc: ENST00000417364.1:c.-7-30C>G
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000441442
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000441442.1:n.359-1911G>C
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394957
  ensembl transcript: ENST00000442720
  gene symbol: SGOL1
  hgvsc: ENST00000442720.1:c.-7-30C>G
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000373284
  ensembl transcript: ENST00000383774
  gene symbol: SGOL1
  hgvsc: ENST00000383774.1:c.-7-30C>G
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000413070
  ensembl transcript: ENST00000443724
  gene symbol: SGOL1
  hgvsc: ENST00000443724.1:c.-7-30C>G
  variant of: http://identifiers.org/hgnc/25088
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8758
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12349
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3721
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4131
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3243
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

3-20225559-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20225559
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 20225559
    reference: chr 3
allele count: 2
allele frequency: 1.855700712589074e-5
allele num: 107776
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394625
  ensembl transcript: ENST00000419233
  gene symbol: SGOL1
  hgvsc: ENST00000419233.2:c.-7-33T>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414960
  ensembl transcript: ENST00000425061
  gene symbol: SGOL1
  hgvsc: ENST00000425061.1:c.-7-33T>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000373284
  ensembl transcript: ENST00000383774
  gene symbol: SGOL1
  hgvsc: ENST00000383774.1:c.-7-33T>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000263753
  ensembl transcript: ENST00000263753
  gene symbol: SGOL1
  hgvsc: ENST00000263753.4:c.-7-33T>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394957
  ensembl transcript: ENST00000442720
  gene symbol: SGOL1
  hgvsc: ENST00000442720.1:c.-7-33T>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000406880
  ensembl transcript: ENST00000412868
  gene symbol: SGOL1
  hgvsc: ENST00000412868.1:c.-7-33T>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000413070
  ensembl transcript: ENST00000443724
  gene symbol: SGOL1
  hgvsc: ENST00000443724.1:c.-7-33T>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000448208
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000448208.1:n.367-1908A>G
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414129
  ensembl transcript: ENST00000421451
  gene symbol: SGOL1
  hgvsc: ENST00000421451.1:c.-7-33T>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000411200
  ensembl transcript: ENST00000452020
  gene symbol: SGOL1
  hgvsc: ENST00000452020.1:c.-7-33T>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000389034
  ensembl transcript: ENST00000437051
  gene symbol: SGOL1
  hgvsc: ENST00000437051.1:c.-7-33T>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000404562
  ensembl transcript: ENST00000429446
  gene symbol: SGOL1
  hgvsc: ENST00000429446.3:c.-7-33T>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394613
  ensembl transcript: ENST00000417364
  gene symbol: SGOL1
  hgvsc: ENST00000417364.1:c.-7-33T>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000410458
  ensembl transcript: ENST00000412997
  gene symbol: SGOL1
  hgvsc: ENST00000412997.1:c.-7-33T>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000441442
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000441442.1:n.359-1908A>G
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000306581
  ensembl transcript: ENST00000306698
  gene symbol: SGOL1
  hgvsc: ENST00000306698.2:c.-7-33T>C
  variant of: http://identifiers.org/hgnc/25088
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3386
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2058
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8343
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10371
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6453
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum

3-20225560-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20225560
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 20225560
    reference: chr 3
allele count: 1
allele frequency: 9.265264523302141e-6
allele num: 107930
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000263753
  ensembl transcript: ENST00000263753
  gene symbol: SGOL1
  hgvsc: ENST00000263753.4:c.-7-34T>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394957
  ensembl transcript: ENST00000442720
  gene symbol: SGOL1
  hgvsc: ENST00000442720.1:c.-7-34T>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000441442
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000441442.1:n.359-1907A>G
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414960
  ensembl transcript: ENST00000425061
  gene symbol: SGOL1
  hgvsc: ENST00000425061.1:c.-7-34T>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000373284
  ensembl transcript: ENST00000383774
  gene symbol: SGOL1
  hgvsc: ENST00000383774.1:c.-7-34T>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000410458
  ensembl transcript: ENST00000412997
  gene symbol: SGOL1
  hgvsc: ENST00000412997.1:c.-7-34T>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000404562
  ensembl transcript: ENST00000429446
  gene symbol: SGOL1
  hgvsc: ENST00000429446.3:c.-7-34T>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000306581
  ensembl transcript: ENST00000306698
  gene symbol: SGOL1
  hgvsc: ENST00000306698.2:c.-7-34T>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000414129
  ensembl transcript: ENST00000421451
  gene symbol: SGOL1
  hgvsc: ENST00000421451.1:c.-7-34T>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237485
  ensembl transcript: ENST00000448208
  gene symbol: SGOL1-AS1
  hgvsc: ENST00000448208.1:n.367-1907A>G
  variant of: http://identifiers.org/hgnc/41081
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000411200
  ensembl transcript: ENST00000452020
  gene symbol: SGOL1
  hgvsc: ENST00000452020.1:c.-7-34T>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000413070
  ensembl transcript: ENST00000443724
  gene symbol: SGOL1
  hgvsc: ENST00000443724.1:c.-7-34T>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000389034
  ensembl transcript: ENST00000437051
  gene symbol: SGOL1
  hgvsc: ENST00000437051.1:c.-7-34T>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000406880
  ensembl transcript: ENST00000412868
  gene symbol: SGOL1
  hgvsc: ENST00000412868.1:c.-7-34T>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394625
  ensembl transcript: ENST00000419233
  gene symbol: SGOL1
  hgvsc: ENST00000419233.2:c.-7-34T>C
  variant of: http://identifiers.org/hgnc/25088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129810
  ensembl protein: ENSP00000394613
  ensembl transcript: ENST00000417364
  gene symbol: SGOL1
  hgvsc: ENST00000417364.1:c.-7-34T>C
  variant of: http://identifiers.org/hgnc/25088
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11730
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6337
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3339
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10402
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4779
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD

3-21462666-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21462666
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 21462666
    reference: chr 3
allele count: 38
allele frequency: 3.936763151896898e-4
allele num: 96526
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000151789
  ensembl protein: ENSP00000281523
  ensembl transcript: ENST00000281523
  gene symbol: ZNF385D
  hgvsc: ENST00000281523.2:c.*40A>G
  variant of: http://identifiers.org/hgnc/26191
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13859
  bin: 2.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7588
  bin: 1.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19521
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
  all individuals: 10
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  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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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 616
  bin: 9.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 896
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1894
  bin: 9.75e1
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 8441
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1227
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 51818
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7356
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 2
  allele frequency: 2.075980900975711e-4
  allele num: 9634
  num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum

3-21462668-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21462668
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 21462668
    reference: chr 3
allele count: 9
allele frequency: 9.315034465627523e-5
allele num: 96618
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000151789
  ensembl protein: ENSP00000281523
  ensembl transcript: ENST00000281523
  gene symbol: ZNF385D
  hgvsc: ENST00000281523.2:c.*38A>C
  variant of: http://identifiers.org/hgnc/26191
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3661
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 2
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: 6.75e1
  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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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  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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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1865
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  variant carriers: 7
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 1
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5742
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6598
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 786
  num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP

3-21462675-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21462675
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 21462675
    reference: chr 3
allele count: 1
allele frequency: 1.014363385539236e-5
allele num: 98584
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000151789
  ensembl protein: ENSP00000281523
  ensembl transcript: ENST00000281523
  gene symbol: ZNF385D
  hgvsc: ENST00000281523.2:c.*31A>C
  variant of: http://identifiers.org/hgnc/26191
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3214
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype 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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  bin: 6.75e1
  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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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: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 1112
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 14760
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6762
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 794
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

3-21462678-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21462678
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 21462678
    reference: chr 3
allele count: 9
allele frequency: 9.006664932049717e-5
allele num: 99926
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000151789
  ensembl protein: ENSP00000281523
  ensembl transcript: ENST00000281523
  gene symbol: ZNF385D
  hgvsc: ENST00000281523.2:c.*28A>G
  variant of: http://identifiers.org/hgnc/26191
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11686
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  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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  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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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1893
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  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 3322
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7776
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9920
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5818
  num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

3-21462680-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21462680
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 21462680
    reference: chr 3
allele count: 1
allele frequency: 9.914733293674401e-6
allele num: 100860
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000151789
  ensembl protein: ENSP00000281523
  ensembl transcript: ENST00000281523
  gene symbol: ZNF385D
  hgvsc: ENST00000281523.2:c.*26C>T
  variant of: http://identifiers.org/hgnc/26191
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9785
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29154
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2008
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2289
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26820
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3169
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10066
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 488
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 3479
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 1198
  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 1549
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1891
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5834
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 808
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.835872957591335e-5
  allele num: 54470
  num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

3-21462685-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21462685
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 21462685
    reference: chr 3
allele count: 1
allele frequency: 9.581664526761589e-6
allele num: 104366
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000151789
  ensembl protein: ENSP00000281523
  ensembl transcript: ENST00000281523
  gene symbol: ZNF385D
  hgvsc: ENST00000281523.2:c.*21T>C
  variant of: http://identifiers.org/hgnc/26191
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8249
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7210
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4094
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1813
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genotype quality: GenotypeQuality
  all individuals: 1249
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1407
  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 551
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1929
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8588
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 15122
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5940
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7330
  num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD

3-21462692-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21462692
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 21462692
    reference: chr 3
allele count: 1
allele frequency: 9.217099563109481e-6
allele num: 108494
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000151789
  ensembl protein: ENSP00000281523
  ensembl transcript: ENST00000281523
  gene symbol: ZNF385D
  hgvsc: ENST00000281523.2:c.*14G>C
  variant of: http://identifiers.org/hgnc/26191
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4528
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4607
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2017
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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: 796
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1589
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 58988
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8766
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6064
  num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

3-21462697-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21462697
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 21462697
    reference: chr 3
allele count: 1
allele frequency: 9.011769370798262e-6
allele num: 110966
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000151789
  ensembl protein: ENSP00000281523
  ensembl transcript: ENST00000281523
  gene symbol: ZNF385D
  hgvsc: ENST00000281523.2:c.*9T>C
  variant of: http://identifiers.org/hgnc/26191
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3117
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38945
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
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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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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 770
  bin: 3.75e1
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num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 846
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9072
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6136
  num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

3-21462700-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21462700
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 21462700
    reference: chr 3
allele count: 1
allele frequency: 8.910591128615473e-6
allele num: 112226
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000151789
  ensembl protein: ENSP00000281523
  ensembl transcript: ENST00000281523
  gene symbol: ZNF385D
  hgvsc: ENST00000281523.2:c.*6A>G
  variant of: http://identifiers.org/hgnc/26191
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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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: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6176
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 6.35970490969219e-5
  allele num: 15724
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9220
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

3-21462701-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21462701
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 21462701
    reference: chr 3
allele count: 27
allele frequency: 2.395103344273929e-4
allele num: 112730
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000151789
  ensembl protein: ENSP00000281523
  ensembl transcript: ENST00000281523
  gene symbol: ZNF385D
  hgvsc: ENST00000281523.2:c.*5C>G
  variant of: http://identifiers.org/hgnc/26191
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2534
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
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  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40090
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  variant carriers: 6
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 27
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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1804
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num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8104
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 856
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 15774
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

3-21462702-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21462702
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 21462702
    reference: chr 3
allele count: 1
allele frequency: 8.838763280241829e-6
allele num: 113138
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000151789
  ensembl protein: ENSP00000281523
  ensembl transcript: ENST00000281523
  gene symbol: ZNF385D
  hgvsc: ENST00000281523.2:c.*4C>A
  variant of: http://identifiers.org/hgnc/26191
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2369
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8138
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 1
  allele frequency: 1.165501165501166e-3
  allele num: 858
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9328
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

3-21462707-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21462707
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 21462707
    reference: chr 3
allele count: 1
allele frequency: 8.694140149539211e-6
allele num: 115020
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: stop_retained_variant
  ensembl gene: ENSG00000151789
  ensembl protein: ENSP00000281523
  ensembl transcript: ENST00000281523
  gene symbol: ZNF385D
  hgvsc: ENST00000281523.2:c.1187A>G
  hgvsp: ENST00000281523.2:c.1187A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26191
canonical: true
consequence: stop retained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Ter396Ter
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8314
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6266
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

3-21462716-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21462716
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 21462716
    reference: chr 3
allele count: 1
allele frequency: 8.510348583877996e-6
allele num: 117504
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151789
  ensembl protein: ENSP00000281523
  ensembl transcript: ENST00000281523
  gene symbol: ZNF385D
  hgvsc: ENST00000281523.2:c.1178C>G
  hgvsp: ENSP00000281523.2:p.Ala393Gly
  variant of: http://identifiers.org/hgnc/26191
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40268
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1777
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2113
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2067
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2052
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5845
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 932
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala393Gly
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11246
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6346
  num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum

3-21462723-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21462723
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 21462723
    reference: chr 3
allele count: 1
allele frequency: 8.444662129068216e-6
allele num: 118418
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151789
  ensembl protein: ENSP00000281523
  ensembl transcript: ENST00000281523
  gene symbol: ZNF385D
  hgvsc: ENST00000281523.2:c.1171C>T
  hgvsp: ENST00000281523.2:c.1171C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26191
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42034
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9096
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4208
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5990
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 962
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2090
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1848
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1591
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2771
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2186
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40168
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu391Leu
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11322
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6386
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-21462729-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21462729
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 21462729
    reference: chr 3
allele count: 1
allele frequency: 8.403643819960336e-6
allele num: 118996
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151789
  ensembl protein: ENSP00000281523
  ensembl transcript: ENST00000281523
  gene symbol: ZNF385D
  hgvsc: ENST00000281523.2:c.1165C>A
  hgvsp: ENSP00000281523.2:p.Pro389Thr
  variant of: http://identifiers.org/hgnc/26191
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9363
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41869
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4365
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1910
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1314
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2875
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 793
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40185
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6127
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2112
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2263
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro389Thr
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6416
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16294
  num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

3-21462732-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21462732
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 21462732
    reference: chr 3
allele count: 7
allele frequency: 5.872877374320424e-5
allele num: 119192
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151789
  ensembl protein: ENSP00000281523
  ensembl transcript: ENST00000281523
  gene symbol: ZNF385D
  hgvsc: ENST00000281523.2:c.1162A>G
  hgvsp: ENSP00000281523.2:p.Thr388Ala
  variant of: http://identifiers.org/hgnc/26191
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4443
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9520
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41710
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2881
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 992
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6181
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1939
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1198
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2119
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40128
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2289
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr388Ala
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16302
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10170
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: ClippingRankSum

GenotypeDepth
all individuals: 10913
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 143
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 199
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2479
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1401
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 310
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23153
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4924
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 95
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 528
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 115
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 41
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1160
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 708
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2321
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8321
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1846
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5296
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 37559
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 3.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10276
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501997656883655e-5
allele num: 66578
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -9.4e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.442e-1

DP
type: SiteQuality
SIO_000300: 1.92036e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-2

QD
type: SiteQuality
SIO_000300: 1.415e1

FS
type: SiteQuality
SIO_000300: 9.243e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.664e0

MQRankSum
type: SiteQuality
SIO_000300: -3.51e-1

GenotypeDepth
all individuals: 142
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 10958
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 199
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 414
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 118
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 95
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13998
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 59
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 310
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 875
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23155
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1160
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variant carriers: 0

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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1.157139551029854e-4
allele num: 8642
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Latino
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Other
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African
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allele frequency: 0.0e0
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South Asian
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European (Non-Finnish)
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VQSLOD
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DP
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FS
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MQ
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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QD
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Non-Finnish)
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allele num: 66580
num of homozygotes: 0

African
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Other
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DP
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VQSLOD
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MQ
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QD
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MQRankSum
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FS
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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Latino
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allele frequency: 1.731301939058172e-4
allele num: 11552
num of homozygotes: 0

East Asian
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Other
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BaseQRankSum
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SIO_000300: -2.054e0

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.5008254539997e-5
allele num: 66630
num of homozygotes: 0

MQ
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FS
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MQRankSum
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ClippingRankSum
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DP
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QD
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ReadPosRankSum
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InbreedingCoeff
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SIO_000300: 7.0e-4

BaseQRankSum
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SIO_000300: 2.59e0

VQSLOD
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SIO_000300: 3.43e0

GenotypeDepth
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bin: 1.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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South Asian
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Latino
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European (Non-Finnish)
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African
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Other
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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QD
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FS
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ClippingRankSum
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InbreedingCoeff
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MQ
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DP
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MQRankSum
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GenotypeDepth
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variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501005673801447e-5
allele num: 66622
num of homozygotes: 0

MQ
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SIO_000300: 6.0e1

ReadPosRankSum
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VQSLOD
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ClippingRankSum
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QD
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FS
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DP
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SIO_000300: 1.921764e6

InbreedingCoeff
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SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -4.43e-1

BaseQRankSum
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SIO_000300: -3.01e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2
allele frequency: 3.002642325246217e-5
allele num: 66608
num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
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BaseQRankSum
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SIO_000300: -8.9e-2

DP
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FS
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MQ
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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QD
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SIO_000300: 1.309e1

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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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num of homozygotes: 0

South Asian
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European (Non-Finnish)
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European (Finnish)
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African
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Latino
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Other
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InbreedingCoeff
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MQ
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ClippingRankSum
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FS
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MQRankSum
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VQSLOD
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DP
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QD
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ReadPosRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 0
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num of homozygotes: 0

South Asian
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East Asian
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African
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European (Finnish)
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Latino
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num of homozygotes: 0

Other
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MQ
type: SiteQuality
SIO_000300: 5.946e1

VQSLOD
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FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.919561e6

InbreedingCoeff
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SIO_000300: 6.569999999999999e-2

QD
type: SiteQuality
SIO_000300: 3.233e1

GenotypeDepth
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variant carriers: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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num of homozygotes: 0

South Asian
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East Asian
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allele frequency: 0.0e0
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Latino
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African
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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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FS
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QD
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BaseQRankSum
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MQ
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VQSLOD
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ReadPosRankSum
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MQRankSum
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DP
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ClippingRankSum
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GenotypeDepth
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variant carriers: 20

GenotypeDepth
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variant carriers: 3

GenotypeDepth
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variant carriers: 12

GenotypeDepth
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variant carriers: 29

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

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

Other
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num of homozygotes: 0

Latino
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African
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East Asian
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European (Non-Finnish)
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allele count: 2
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allele num: 66542
num of homozygotes: 0

South Asian
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allele num: 16474
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

FS
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ClippingRankSum
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DP
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MQ
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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QD
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MQRankSum
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BaseQRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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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 frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66466
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African
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Latino
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VQSLOD
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SIO_000300: -5.379e-1

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

African
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South Asian
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Latino
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European (Finnish)
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European (Non-Finnish)
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allele num: 66394
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Other
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VQSLOD
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FS
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DP
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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QD
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MQ
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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num of homozygotes: 0

South Asian
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European (Finnish)
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European (Non-Finnish)
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African
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Other
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East Asian
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FS
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BaseQRankSum
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DP
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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QD
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ClippingRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9976
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.528210770829513e-5
allele num: 65436
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11454
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 1.866051e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.68e-1

VQSLOD
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SIO_000300: -1.25e-2

FS
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SIO_000300: 4.902e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-1

QD
type: SiteQuality
SIO_000300: 8.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.999999999999999e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.519e0

MQ
type: SiteQuality
SIO_000300: 5.949e1

GenotypeDepth
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11372
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 25
allele frequency: 3.878253854984332e-4
allele num: 64462
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.5220700152207e-4
allele num: 6570
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8488
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9634
num of homozygotes: 0

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

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

ClippingRankSum
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SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.669999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.477e1

MQRankSum
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SIO_000300: 4.57e-1

FS
type: SiteQuality
SIO_000300: 6.94e-1

DP
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SIO_000300: 1.79827e6

BaseQRankSum
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SIO_000300: 2.65e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

GenotypeDepth
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variant carriers: 3

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.559332605644784e-5
allele num: 64130
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8464
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14838
num of homozygotes: 0

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

African
type: Population
allele count: 32
allele frequency: 3.339595074097266e-3
allele num: 9582
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.764290755116443e-4
allele num: 11336
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.5e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.24e-1

FS
type: SiteQuality
SIO_000300: 1.941e0

QD
type: SiteQuality
SIO_000300: 1.232e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.81e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.693e0

DP
type: SiteQuality
SIO_000300: 1.764912e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.137451761679164e-5
allele num: 63746
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.053740779768177e-4
allele num: 9490
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.529519730804527e-4
allele num: 6538
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8418
num of homozygotes: 0

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

BaseQRankSum
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SIO_000300: 1.8e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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FS
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SIO_000300: 9.715e0

QD
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
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MQRankSum
type: SiteQuality
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DP
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SIO_000300: 1.726097e6

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 4
allele frequency: 2.82845424975251e-4
allele num: 14142
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62918
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11268
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6514
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

QD
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ClippingRankSum
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.938e1

DP
type: SiteQuality
SIO_000300: 1.624312e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.27e-1

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14074
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9272
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East Asian
type: Population
allele count: 0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11260
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.590786166523496e-5
allele num: 62862
num of homozygotes: 0

QD
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FS
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MQRankSum
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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MQ
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ClippingRankSum
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InbreedingCoeff
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SIO_000300: 5.6e-3

DP
type: SiteQuality
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 0.0e0
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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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num of homozygotes: 0

East Asian
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allele frequency: 1.195028680688336e-4
allele num: 8368
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African
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allele frequency: 2.911993097497843e-3
allele num: 9272
num of homozygotes: 0

Latino
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allele frequency: 1.776198934280639e-4
allele num: 11260
num of homozygotes: 0

Other
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DP
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SIO_000300: 1.623e6

ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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VQSLOD
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ClippingRankSum
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FS
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QD
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BaseQRankSum
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SIO_000300: 3.94e-1

MQ
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SIO_000300: 5.524e1

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 16
allele frequency: 2.557871850620284e-4
allele num: 62552
num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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VQSLOD
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BaseQRankSum
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DP
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FS
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ReadPosRankSum
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SIO_000300: 4.63e-1

MQRankSum
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InbreedingCoeff
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QD
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MQ
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ClippingRankSum
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SIO_000300: -2.09e-1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 11216
num of homozygotes: 0

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

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

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

European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.606787068577672e-5
allele num: 62236
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

ReadPosRankSum
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SIO_000300: 6.33e-1

FS
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SIO_000300: 3.424e0

QD
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MQ
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DP
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MQRankSum
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BaseQRankSum
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SIO_000300: -2.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.07e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.94e-1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 2
allele frequency: 1.548706829797119e-4
allele num: 12914
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
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allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11058
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59854
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

InbreedingCoeff
type: SiteQuality
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DP
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BaseQRankSum
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ClippingRankSum
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FS
type: SiteQuality
SIO_000300: 2.635e0

VQSLOD
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SIO_000300: -2.482e0

MQ
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 8.51e-1

MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59926
num of homozygotes: 0

Other
type: Population
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allele num: 824
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East Asian
type: Population
allele count: 1
allele frequency: 1.237317495669389e-4
allele num: 8082
num of homozygotes: 0

African
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allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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DP
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MQ
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VQSLOD
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FS
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BaseQRankSum
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QD
type: SiteQuality
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Other
type: Population
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South Asian
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European (Finnish)
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East Asian
type: Population
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allele frequency: 5.454545454545455e-3
allele num: 6600
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
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QD
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VQSLOD
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FS
type: SiteQuality
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BaseQRankSum
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DP
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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African
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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South Asian
type: Population
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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QD
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MQRankSum
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MQ
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VQSLOD
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FS
type: SiteQuality
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DP
type: SiteQuality
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European (Non-Finnish)
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allele frequency: 1.884658876743309e-5
allele num: 53060
num of homozygotes: 0

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

MQ
type: SiteQuality
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ReadPosRankSum
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
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FS
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
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MQRankSum
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Other
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South Asian
type: Population
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allele frequency: 6.060606060606061e-4
allele num: 14850
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
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MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.524e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.52e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e-2

DP
type: SiteQuality
SIO_000300: 1.125193e6

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14904
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7870
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6982
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.694e0

MQRankSum
type: SiteQuality
SIO_000300: 5.29e-1

DP
type: SiteQuality
SIO_000300: 1.15042e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 8.608000000000001e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e0

QD
type: SiteQuality
SIO_000300: 1.227e1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10308
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.767159115006715e-5
allele num: 56588
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.63e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.08e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.649999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.21323e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.014e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

QD
type: SiteQuality
SIO_000300: 1.324e1

South Asian
type: Population
allele count: 1
allele frequency: 6.47332988089073e-5
allele num: 15448
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10656
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.280335e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.3e-2

MQ
type: SiteQuality
SIO_000300: 5.936e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.98e0

QD
type: SiteQuality
SIO_000300: 1.764e1

VQSLOD
type: SiteQuality
SIO_000300: -3.855e-1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10828
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15622
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.652728655009421e-5
allele num: 60506
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.73e-1

DP
type: SiteQuality
SIO_000300: 1.317813e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.032e0

QD
type: SiteQuality
SIO_000300: 1.022e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.19e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.32e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61274
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8070
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.938e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.73e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.32e-1

FS
type: SiteQuality
SIO_000300: 4.821e0

QD
type: SiteQuality
SIO_000300: 1.245e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.3e-1

DP
type: SiteQuality
SIO_000300: 1.335028e6

European (Non-Finnish)
type: Population
allele count: 27
allele frequency: 4.384113272496996e-4
allele num: 61586
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10940
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9280
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6190
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.9e-2

MQ
type: SiteQuality
SIO_000300: 5.952e1

QD
type: SiteQuality
SIO_000300: 1.398e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.91e0

DP
type: SiteQuality
SIO_000300: 1.343115e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61832
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6214
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15802
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

DP
type: SiteQuality
SIO_000300: 1.349092e6

FS
type: SiteQuality
SIO_000300: 3.851e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.15e-1

QD
type: SiteQuality
SIO_000300: 1.004e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.588461416272199e-5
allele num: 62954
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9570
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11090
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 8.787000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.018e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.373078e6

MQRankSum
type: SiteQuality
SIO_000300: -5.48e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.551e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.67e-1

QD
type: SiteQuality
SIO_000300: 1.901e1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8472
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.006846556584777e-4
allele num: 9932
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16154
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64468
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.274e0

FS
type: SiteQuality
SIO_000300: 4.771e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.09e-1

QD
type: SiteQuality
SIO_000300: 1.908e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

DP
type: SiteQuality
SIO_000300: 1.409302e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.264e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10064
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64998
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8536
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.16294835449279e-5
allele num: 16226
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.969e0

DP
type: SiteQuality
SIO_000300: 1.423354e6

FS
type: SiteQuality
SIO_000300: 1.902e0

QD
type: SiteQuality
SIO_000300: 7.4e0

VQSLOD
type: SiteQuality
SIO_000300: -1.746e0

MQ
type: SiteQuality
SIO_000300: 5.871e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.65e-1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11368
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.858044164037855e-5
allele num: 10144
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65322
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.432414e6

MQRankSum
type: SiteQuality
SIO_000300: 6.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.182e0

MQ
type: SiteQuality
SIO_000300: 5.934e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.23e-1

FS
type: SiteQuality
SIO_000300: 1.1262e1

QD
type: SiteQuality
SIO_000300: 1.364e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.236e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.59e-1

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.069388004521984e-4
allele num: 65458
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11378
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6418
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.3e-2