20-3218216-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3218216
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3218216
    reference: chr 20
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000404271
  ensembl transcript: ENST00000437836
  gene symbol: SLC4A11
  hgvsc: ENST00000437836.2:c.5C>A
  hgvsp: ENSP00000404271.2:p.Ser2Ter
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369396
  ensembl transcript: ENST00000380056
  gene symbol: SLC4A11
  hgvsc: ENST00000380056.3:c.110C>A
  hgvsp: ENSP00000369396.3:p.Ser37Ter
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369399
  ensembl transcript: ENST00000380059
  gene symbol: SLC4A11
  hgvsc: ENST00000380059.3:c.191C>A
  hgvsp: ENSP00000369399.3:p.Ser64Ter
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.5C>A
  hgvsp: ENSP00000476859.1:p.Ser2Ter
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.62C>A
  hgvsp: ENSP00000441370.1:p.Ser21Ter
  variant of: http://identifiers.org/hgnc/16438
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5846
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3728
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4636
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3198
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5986
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2131
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5644
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5069
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5239
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5610
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2966
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51843
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1542
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1201
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1160
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser64Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

20-3218216-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3218216
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3218216
    reference: chr 20
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369399
  ensembl transcript: ENST00000380059
  gene symbol: SLC4A11
  hgvsc: ENST00000380059.3:c.191C>T
  hgvsp: ENSP00000369399.3:p.Ser64Leu
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369396
  ensembl transcript: ENST00000380056
  gene symbol: SLC4A11
  hgvsc: ENST00000380056.3:c.110C>T
  hgvsp: ENSP00000369396.3:p.Ser37Leu
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.62C>T
  hgvsp: ENSP00000441370.1:p.Ser21Leu
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.5C>T
  hgvsp: ENSP00000476859.1:p.Ser2Leu
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000404271
  ensembl transcript: ENST00000437836
  gene symbol: SLC4A11
  hgvsc: ENST00000437836.2:c.5C>T
  hgvsp: ENSP00000404271.2:p.Ser2Leu
  variant of: http://identifiers.org/hgnc/16438
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3198
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3728
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5069
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2131
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2966
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4636
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5846
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5986
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5239
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5610
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5644
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51843
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2051
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1201
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser64Leu
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

20-3218217-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3218217
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3218217
    reference: chr 20
allele count: 5
allele frequency: 4.119769952045878e-5
allele num: 121366
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.4T>C
  hgvsp: ENSP00000476859.1:p.Ser2Pro
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.61T>C
  hgvsp: ENSP00000441370.1:p.Ser21Pro
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369396
  ensembl transcript: ENST00000380056
  gene symbol: SLC4A11
  hgvsc: ENST00000380056.3:c.109T>C
  hgvsp: ENSP00000369396.3:p.Ser37Pro
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369399
  ensembl transcript: ENST00000380059
  gene symbol: SLC4A11
  hgvsc: ENST00000380059.3:c.190T>C
  hgvsp: ENSP00000369399.3:p.Ser64Pro
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000404271
  ensembl transcript: ENST00000437836
  gene symbol: SLC4A11
  hgvsc: ENST00000437836.2:c.4T>C
  hgvsp: ENSP00000404271.2:p.Ser2Pro
  variant of: http://identifiers.org/hgnc/16438
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2967
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2131
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3198
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5610
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5986
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5240
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5069
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5846
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5643
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4636
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3728
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
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genotype quality: GenotypeQuality
  all individuals: 1162
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51844
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1542
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2060
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 21
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genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser64Pro
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum

20-3218221-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3218221
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3218221
    reference: chr 20
allele count: 2
allele frequency: 1.647826516824309e-5
allele num: 121372
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369396
  ensembl transcript: ENST00000380056
  gene symbol: SLC4A11
  hgvsc: ENST00000380056.3:c.105C>T
  hgvsp: ENST00000380056.3:c.105C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369399
  ensembl transcript: ENST00000380059
  gene symbol: SLC4A11
  hgvsc: ENST00000380059.3:c.186C>T
  hgvsp: ENST00000380059.3:c.186C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.57C>T
  hgvsp: ENST00000539553.2:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.-1C>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000404271
  ensembl transcript: ENST00000437836
  gene symbol: SLC4A11
  hgvsc: ENST00000437836.2:c.-1C>T
  variant of: http://identifiers.org/hgnc/16438
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5845
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3728
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5643
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2966
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5070
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5984
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2375
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3198
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4637
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5240
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5611
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1201
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1164
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1131
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2069
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr62Thr
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

20-3218231-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3218231
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3218231
    reference: chr 20
allele count: 2
allele frequency: 1.647853670594051e-5
allele num: 121370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.-11A>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369399
  ensembl transcript: ENST00000380059
  gene symbol: SLC4A11
  hgvsc: ENST00000380059.3:c.176A>T
  hgvsp: ENSP00000369399.3:p.Asn59Ile
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369396
  ensembl transcript: ENST00000380056
  gene symbol: SLC4A11
  hgvsc: ENST00000380056.3:c.95A>T
  hgvsp: ENSP00000369396.3:p.Asn32Ile
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.47A>T
  hgvsp: ENSP00000441370.1:p.Asn16Ile
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000404271
  ensembl transcript: ENST00000437836
  gene symbol: SLC4A11
  hgvsc: ENST00000437836.2:c.-11A>T
  variant of: http://identifiers.org/hgnc/16438
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5643
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4637
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3728
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5611
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3196
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5239
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5984
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5845
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2966
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1166
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2066
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asn59Ile
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

20-3218241-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3218241
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3218241
    reference: chr 20
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.-14-7C>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.44-7C>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369396
  ensembl transcript: ENST00000380056
  gene symbol: SLC4A11
  hgvsc: ENST00000380056.3:c.85C>T
  hgvsp: ENSP00000369396.3:p.Leu29Phe
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369399
  ensembl transcript: ENST00000380059
  gene symbol: SLC4A11
  hgvsc: ENST00000380059.3:c.173-7C>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000404271
  ensembl transcript: ENST00000437836
  gene symbol: SLC4A11
  hgvsc: ENST00000437836.2:c.-14-7C>T
  variant of: http://identifiers.org/hgnc/16438
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2966
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5072
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5612
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5239
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4160
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5643
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5845
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5983
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3728
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3196
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4637
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51844
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1136
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2059
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu29Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

20-3218242-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3218242
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3218242
    reference: chr 20
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369399
  ensembl transcript: ENST00000380059
  gene symbol: SLC4A11
  hgvsc: ENST00000380059.3:c.173-8C>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369396
  ensembl transcript: ENST00000380056
  gene symbol: SLC4A11
  hgvsc: ENST00000380056.3:c.84C>T
  hgvsp: ENST00000380056.3:c.84C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.44-8C>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.-14-8C>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000404271
  ensembl transcript: ENST00000437836
  gene symbol: SLC4A11
  hgvsc: ENST00000437836.2:c.-14-8C>T
  variant of: http://identifiers.org/hgnc/16438
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5840
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4160
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5238
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5641
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5607
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6004
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2965
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4636
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3728
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3194
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5072
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51847
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1164
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1539
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: c.173-8C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS

20-3218242-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3218242
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3218242
    reference: chr 20
allele count: 37
allele frequency: 3.048680003955045e-4
allele num: 121364
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.44-8C>G
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369396
  ensembl transcript: ENST00000380056
  gene symbol: SLC4A11
  hgvsc: ENST00000380056.3:c.84C>G
  hgvsp: ENST00000380056.3:c.84C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000404271
  ensembl transcript: ENST00000437836
  gene symbol: SLC4A11
  hgvsc: ENST00000437836.2:c.-14-8C>G
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.-14-8C>G
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369399
  ensembl transcript: ENST00000380059
  gene symbol: SLC4A11
  hgvsc: ENST00000380059.3:c.173-8C>G
  variant of: http://identifiers.org/hgnc/16438
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2965
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4160
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6004
  bin: 9.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 5641
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5072
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3728
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5238
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5607
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4636
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5840
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3194
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2062
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1164
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51847
  bin: 9.75e1
  variant carriers: 36
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1136
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: c.173-8C>G
num of homozygotes: 1
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

20-3218243-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3218243
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3218243
    reference: chr 20
allele count: 2
allele frequency: 1.647962294622699e-5
allele num: 121362
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369399
  ensembl transcript: ENST00000380059
  gene symbol: SLC4A11
  hgvsc: ENST00000380059.3:c.173-9C>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.-14-9C>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.44-9C>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000404271
  ensembl transcript: ENST00000437836
  gene symbol: SLC4A11
  hgvsc: ENST00000437836.2:c.-14-9C>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369396
  ensembl transcript: ENST00000380056
  gene symbol: SLC4A11
  hgvsc: ENST00000380056.3:c.83C>T
  hgvsp: ENSP00000369396.3:p.Ser28Phe
  variant of: http://identifiers.org/hgnc/16438
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3728
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5239
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5988
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5643
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3195
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5607
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2966
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5843
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4636
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51843
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1167
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1539
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser28Phe
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/20-3218258-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3218258
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3218258
    reference: chr 20
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.44-24G>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000404271
  ensembl transcript: ENST00000437836
  gene symbol: SLC4A11
  hgvsc: ENST00000437836.2:c.-14-24G>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369396
  ensembl transcript: ENST00000380056
  gene symbol: SLC4A11
  hgvsc: ENST00000380056.3:c.68G>T
  hgvsp: ENSP00000369396.3:p.Gly23Val
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.-14-24G>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369399
  ensembl transcript: ENST00000380059
  gene symbol: SLC4A11
  hgvsc: ENST00000380059.3:c.173-24G>T
  variant of: http://identifiers.org/hgnc/16438
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5607
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5843
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3728
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4636
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5989
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2966
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3195
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5238
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5643
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2053
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1143
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51843
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly23Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

20-3218258-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3218258
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3218258
    reference: chr 20
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.44-24G>A
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369396
  ensembl transcript: ENST00000380056
  gene symbol: SLC4A11
  hgvsc: ENST00000380056.3:c.68G>A
  hgvsp: ENSP00000369396.3:p.Gly23Asp
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369399
  ensembl transcript: ENST00000380059
  gene symbol: SLC4A11
  hgvsc: ENST00000380059.3:c.173-24G>A
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.-14-24G>A
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000404271
  ensembl transcript: ENST00000437836
  gene symbol: SLC4A11
  hgvsc: ENST00000437836.2:c.-14-24G>A
  variant of: http://identifiers.org/hgnc/16438
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3728
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5607
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5989
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2966
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5843
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3195
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4636
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5238
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5643
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1538
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51843
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 673
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2053
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly23Asp
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

20-3218262-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3218262
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3218262
    reference: chr 20
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.-14-28G>A
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369396
  ensembl transcript: ENST00000380056
  gene symbol: SLC4A11
  hgvsc: ENST00000380056.3:c.64G>A
  hgvsp: ENSP00000369396.3:p.Ala22Thr
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.44-28G>A
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000404271
  ensembl transcript: ENST00000437836
  gene symbol: SLC4A11
  hgvsc: ENST00000437836.2:c.-14-28G>A
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369399
  ensembl transcript: ENST00000380059
  gene symbol: SLC4A11
  hgvsc: ENST00000380059.3:c.173-28G>A
  variant of: http://identifiers.org/hgnc/16438
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3195
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3727
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5843
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2966
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5607
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5989
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4636
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5238
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1206
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2053
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1135
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51843
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ala22Thr
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

20-3218263-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3218263
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3218263
    reference: chr 20
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.44-29G>A
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000404271
  ensembl transcript: ENST00000437836
  gene symbol: SLC4A11
  hgvsc: ENST00000437836.2:c.-14-29G>A
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369399
  ensembl transcript: ENST00000380059
  gene symbol: SLC4A11
  hgvsc: ENST00000380059.3:c.173-29G>A
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.-14-29G>A
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369396
  ensembl transcript: ENST00000380056
  gene symbol: SLC4A11
  hgvsc: ENST00000380056.3:c.63G>A
  hgvsp: ENST00000380056.3:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16438
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2966
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5644
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5843
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5607
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3195
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4635
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3727
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5238
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5072
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5989
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1166
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51843
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1206
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1134
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly21Gly
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

20-3218279-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3218279
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3218279
    reference: chr 20
allele count: 4
allele frequency: 3.295870274545994e-5
allele num: 121364
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.-14-45A>C
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369396
  ensembl transcript: ENST00000380056
  gene symbol: SLC4A11
  hgvsc: ENST00000380056.3:c.47A>C
  hgvsp: ENSP00000369396.3:p.Gln16Pro
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.44-45A>C
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000404271
  ensembl transcript: ENST00000437836
  gene symbol: SLC4A11
  hgvsc: ENST00000437836.2:c.-14-45A>C
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369399
  ensembl transcript: ENST00000380059
  gene symbol: SLC4A11
  hgvsc: ENST00000380059.3:c.173-45A>C
  variant of: http://identifiers.org/hgnc/16438
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4635
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2966
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5238
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5070
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3195
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5843
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5992
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5644
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5607
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3726
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1134
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51844
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2031
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1163
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gln16Pro
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

20-3218292-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3218292
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3218292
    reference: chr 20
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000404271
  ensembl transcript: ENST00000437836
  gene symbol: SLC4A11
  hgvsc: ENST00000437836.2:c.-14-58A>G
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.44-58A>G
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.-14-58A>G
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369396
  ensembl transcript: ENST00000380056
  gene symbol: SLC4A11
  hgvsc: ENST00000380056.3:c.34A>G
  hgvsp: ENSP00000369396.3:p.Thr12Ala
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369399
  ensembl transcript: ENST00000380059
  gene symbol: SLC4A11
  hgvsc: ENST00000380059.3:c.173-58A>G
  variant of: http://identifiers.org/hgnc/16438
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5989
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3726
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3195
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4635
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5608
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5070
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5237
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5843
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2967
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5645
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2011
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1538
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1206
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51843
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Thr12Ala
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

20-3218295-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3218295
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3218295
    reference: chr 20
allele count: 2
allele frequency: 1.648152421135907e-5
allele num: 121348
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000404271
  ensembl transcript: ENST00000437836
  gene symbol: SLC4A11
  hgvsc: ENST00000437836.2:c.-14-61T>C
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369396
  ensembl transcript: ENST00000380056
  gene symbol: SLC4A11
  hgvsc: ENST00000380056.3:c.31T>C
  hgvsp: ENSP00000369396.3:p.Cys11Arg
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.-14-61T>C
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.44-61T>C
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369399
  ensembl transcript: ENST00000380059
  gene symbol: SLC4A11
  hgvsc: ENST00000380059.3:c.173-61T>C
  variant of: http://identifiers.org/hgnc/16438
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4635
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5990
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3727
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3195
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5070
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2377
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5237
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2965
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5608
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5645
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5843
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1995
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1538
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1207
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1163
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1114
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Cys11Arg
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum

http://identifiers.org/exac.variant/20-3218306-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3218306
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3218306
    reference: chr 20
allele count: 2
allele frequency: 1.648179585647652e-5
allele num: 121346
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000404271
  ensembl transcript: ENST00000437836
  gene symbol: SLC4A11
  hgvsc: ENST00000437836.2:c.-14-72G>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369396
  ensembl transcript: ENST00000380056
  gene symbol: SLC4A11
  hgvsc: ENST00000380056.3:c.20G>T
  hgvsp: ENSP00000369396.3:p.Arg7Leu
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369399
  ensembl transcript: ENST00000380059
  gene symbol: SLC4A11
  hgvsc: ENST00000380059.3:c.173-72G>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.-14-72G>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.44-72G>T
  variant of: http://identifiers.org/hgnc/16438
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3194
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5645
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4634
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5235
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5608
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5994
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5069
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3726
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2965
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5842
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1921
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1163
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg7Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum

20-3218306-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3218306
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3218306
    reference: chr 20
allele count: 6
allele frequency: 4.944538756942956e-5
allele num: 121346
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.-14-72G>C
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000404271
  ensembl transcript: ENST00000437836
  gene symbol: SLC4A11
  hgvsc: ENST00000437836.2:c.-14-72G>C
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.44-72G>C
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369396
  ensembl transcript: ENST00000380056
  gene symbol: SLC4A11
  hgvsc: ENST00000380056.3:c.20G>C
  hgvsp: ENSP00000369396.3:p.Arg7Pro
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369399
  ensembl transcript: ENST00000380059
  gene symbol: SLC4A11
  hgvsc: ENST00000380059.3:c.173-72G>C
  variant of: http://identifiers.org/hgnc/16438
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5994
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5645
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5842
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5608
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3194
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2965
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3726
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4634
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5235
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5069
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1538
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1109
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg7Pro
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD

20-3218307-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3218307
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3218307
    reference: chr 20
allele count: 52
allele frequency: 4.28795250267997e-4
allele num: 121270
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369399
  ensembl transcript: ENST00000380059
  gene symbol: SLC4A11
  hgvsc: ENST00000380059.3:c.173-73C>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.-14-73C>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000404271
  ensembl transcript: ENST00000437836
  gene symbol: SLC4A11
  hgvsc: ENST00000437836.2:c.-14-73C>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369396
  ensembl transcript: ENST00000380056
  gene symbol: SLC4A11
  hgvsc: ENST00000380056.3:c.19C>T
  hgvsp: ENSP00000369396.3:p.Arg7Trp
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.44-73C>T
  variant of: http://identifiers.org/hgnc/16438
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5645
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5607
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4159
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5834
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2377
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5069
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5229
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3194
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3719
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6033
  bin: 9.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 4631
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2963
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1090
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51831
  bin: 9.75e1
  variant carriers: 52
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg7Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff

20-3218307-G-GC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3218307
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3218308
    reference: chr 20
allele count: 3
allele frequency: 2.473818751546137e-5
allele num: 121270
alternate allele: GC
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369396
  ensembl transcript: ENST00000380056
  gene symbol: SLC4A11
  hgvsc: ENST00000380056.3:c.18dupG
  hgvsp: ENSP00000369396.3:p.Arg7AlafsTer18
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.-14-74dupG
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.44-74dupG
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369399
  ensembl transcript: ENST00000380059
  gene symbol: SLC4A11
  hgvsc: ENST00000380059.3:c.173-74dupG
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000404271
  ensembl transcript: ENST00000437836
  gene symbol: SLC4A11
  hgvsc: ENST00000437836.2:c.-14-74dupG
  variant of: http://identifiers.org/hgnc/16438
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2963
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5645
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3719
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4631
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2377
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4159
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5069
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5834
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6033
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5229
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5607
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3194
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1532
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1090
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg7AlafsTer18
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum

20-3218313-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3218313
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3218313
    reference: chr 20
allele count: 7
allele frequency: 5.769294168067781e-5
allele num: 121332
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369396
  ensembl transcript: ENST00000380056
  gene symbol: SLC4A11
  hgvsc: ENST00000380056.3:c.13G>C
  hgvsp: ENSP00000369396.3:p.Gly5Arg
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000404271
  ensembl transcript: ENST00000437836
  gene symbol: SLC4A11
  hgvsc: ENST00000437836.2:c.-14-79G>C
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.44-79G>C
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369399
  ensembl transcript: ENST00000380059
  gene symbol: SLC4A11
  hgvsc: ENST00000380059.3:c.173-79G>C
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.-14-79G>C
  variant of: http://identifiers.org/hgnc/16438
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3720
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5233
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5995
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5073
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4634
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3187
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5834
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5651
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2363
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5610
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1954
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1099
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1208
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51832
  bin: 9.75e1
  variant carriers: 7
hgvs: p.Gly5Arg
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD

20-3218313-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3218313
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3218313
    reference: chr 20
allele count: 4
allele frequency: 3.296739524610161e-5
allele num: 121332
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.44-79G>A
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369399
  ensembl transcript: ENST00000380059
  gene symbol: SLC4A11
  hgvsc: ENST00000380059.3:c.173-79G>A
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000404271
  ensembl transcript: ENST00000437836
  gene symbol: SLC4A11
  hgvsc: ENST00000437836.2:c.-14-79G>A
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369396
  ensembl transcript: ENST00000380056
  gene symbol: SLC4A11
  hgvsc: ENST00000380056.3:c.13G>A
  hgvsp: ENSP00000369396.3:p.Gly5Arg
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.-14-79G>A
  variant of: http://identifiers.org/hgnc/16438
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4634
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3720
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5834
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5233
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5995
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5073
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2363
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5651
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3187
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5610
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1954
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1099
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1208
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly5Arg
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

20-3218314-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3218314
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3218314
    reference: chr 20
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369396
  ensembl transcript: ENST00000380056
  gene symbol: SLC4A11
  hgvsc: ENST00000380056.3:c.12C>T
  hgvsp: ENST00000380056.3:c.12C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.-14-80C>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.44-80C>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000404271
  ensembl transcript: ENST00000437836
  gene symbol: SLC4A11
  hgvsc: ENST00000437836.2:c.-14-80C>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369399
  ensembl transcript: ENST00000380059
  gene symbol: SLC4A11
  hgvsc: ENST00000380059.3:c.173-80C>T
  variant of: http://identifiers.org/hgnc/16438
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5650
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3719
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5235
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4157
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5611
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2970
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2364
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5834
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4633
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3188
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5991
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1966
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1159
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val4Val
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

20-3218316-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3218316
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3218316
    reference: chr 20
allele count: 1
allele frequency: 8.242256400112095e-6
allele num: 121326
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.44-82G>A
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.-14-82G>A
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369396
  ensembl transcript: ENST00000380056
  gene symbol: SLC4A11
  hgvsc: ENST00000380056.3:c.10G>A
  hgvsp: ENSP00000369396.3:p.Val4Ile
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000404271
  ensembl transcript: ENST00000437836
  gene symbol: SLC4A11
  hgvsc: ENST00000437836.2:c.-14-82G>A
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369399
  ensembl transcript: ENST00000380059
  gene symbol: SLC4A11
  hgvsc: ENST00000380059.3:c.173-82G>A
  variant of: http://identifiers.org/hgnc/16438
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3719
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5650
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5611
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3189
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2364
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4633
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5992
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5834
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1208
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1986
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1109
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1536
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1160
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val4Ile
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/20-3218317-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3218317
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3218317
    reference: chr 20
allele count: 1
allele frequency: 8.24279991427488e-6
allele num: 121318
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.-14-83G>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369396
  ensembl transcript: ENST00000380056
  gene symbol: SLC4A11
  hgvsc: ENST00000380056.3:c.9G>T
  hgvsp: ENSP00000369396.3:p.Gln3His
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.44-83G>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369399
  ensembl transcript: ENST00000380059
  gene symbol: SLC4A11
  hgvsc: ENST00000380059.3:c.173-83G>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000404271
  ensembl transcript: ENST00000437836
  gene symbol: SLC4A11
  hgvsc: ENST00000437836.2:c.-14-83G>T
  variant of: http://identifiers.org/hgnc/16438
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3719
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2364
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5611
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5991
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5834
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3189
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5650
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4634
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51827
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1110
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1159
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1206
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gln3His
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

20-3218324-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3218324
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3218324
    reference: chr 20
allele count: 1
allele frequency: 8.24347940778844e-6
allele num: 121308
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.-14-90T>A
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000404271
  ensembl transcript: ENST00000437836
  gene symbol: SLC4A11
  hgvsc: ENST00000437836.2:c.-14-90T>A
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369396
  ensembl transcript: ENST00000380056
  gene symbol: SLC4A11
  hgvsc: ENST00000380056.3:c.2T>A
  hgvsp: ENSP00000369396.3:p.Met1?
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369399
  ensembl transcript: ENST00000380059
  gene symbol: SLC4A11
  hgvsc: ENST00000380059.3:c.173-90T>A
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.44-90T>A
  variant of: http://identifiers.org/hgnc/16438
canonical: false
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5611
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5991
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2365
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3188
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5651
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5834
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4634
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3719
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5233
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51827
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
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genotype quality: GenotypeQuality
  all individuals: 4
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genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1164
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum

20-3218325-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3218325
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3218325
    reference: chr 20
allele count: 1
allele frequency: 8.243071698237632e-6
allele num: 121314
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.-14-91A>G
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369396
  ensembl transcript: ENST00000380056
  gene symbol: SLC4A11
  hgvsc: ENST00000380056.3:c.1A>G
  hgvsp: ENSP00000369396.3:p.Met1?
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369399
  ensembl transcript: ENST00000380059
  gene symbol: SLC4A11
  hgvsc: ENST00000380059.3:c.173-91A>G
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000404271
  ensembl transcript: ENST00000437836
  gene symbol: SLC4A11
  hgvsc: ENST00000437836.2:c.-14-91A>G
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.44-91A>G
  variant of: http://identifiers.org/hgnc/16438
canonical: false
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5072
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2365
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5834
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3185
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5651
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4634
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5611
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5991
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5233
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 8.75e1
  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
  all individuals: 2138
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genotype depth: GenotypeDepth
  all individuals: 3719
  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 666
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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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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 47
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genotype quality: GenotypeQuality
  all individuals: 107
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1101
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum

20-3218327-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3218327
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3218327
    reference: chr 20
allele count: 1
allele frequency: 8.242935804015958e-6
allele num: 121316
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369396
  ensembl transcript: ENST00000380056
  gene symbol: SLC4A11
  hgvsc: ENST00000380056.3:c.-2G>C
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000404271
  ensembl transcript: ENST00000437836
  gene symbol: SLC4A11
  hgvsc: ENST00000437836.2:c.-14-93G>C
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.44-93G>C
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369399
  ensembl transcript: ENST00000380059
  gene symbol: SLC4A11
  hgvsc: ENST00000380059.3:c.173-93G>C
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.-14-93G>C
  variant of: http://identifiers.org/hgnc/16438
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5651
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2365
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5834
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5991
  bin: 9.75e1
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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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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 5234
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4156
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1098
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1535
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1163
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1983
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51828
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/20-3218328-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3218328
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3218328
    reference: chr 20
allele count: 1
allele frequency: 8.243071698237632e-6
allele num: 121314
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.-14-94G>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.44-94G>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369399
  ensembl transcript: ENST00000380059
  gene symbol: SLC4A11
  hgvsc: ENST00000380059.3:c.173-94G>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369396
  ensembl transcript: ENST00000380056
  gene symbol: SLC4A11
  hgvsc: ENST00000380056.3:c.-3G>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000404271
  ensembl transcript: ENST00000437836
  gene symbol: SLC4A11
  hgvsc: ENST00000437836.2:c.-14-94G>T
  variant of: http://identifiers.org/hgnc/16438
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3720
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5834
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4634
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5991
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5652
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2365
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5611
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2968
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3185
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1536
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
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genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 119
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 1206
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51827
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

20-3218331-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3218331
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3218331
    reference: chr 20
allele count: 1
allele frequency: 8.243751236562685e-6
allele num: 121304
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.-14-97G>A
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.44-97G>A
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000404271
  ensembl transcript: ENST00000437836
  gene symbol: SLC4A11
  hgvsc: ENST00000437836.2:c.-14-97G>A
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369399
  ensembl transcript: ENST00000380059
  gene symbol: SLC4A11
  hgvsc: ENST00000380059.3:c.173-97G>A
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369396
  ensembl transcript: ENST00000380056
  gene symbol: SLC4A11
  hgvsc: ENST00000380056.3:c.-6G>A
  variant of: http://identifiers.org/hgnc/16438
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3719
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5611
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2968
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2365
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3187
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5652
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5834
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5991
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4634
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1919
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51826
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1165
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1206
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1092
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

20-3218332-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3218332
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3218332
    reference: chr 20
allele count: 1
allele frequency: 8.243887157672586e-6
allele num: 121302
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.44-98C>A
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.-14-98C>A
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000404271
  ensembl transcript: ENST00000437836
  gene symbol: SLC4A11
  hgvsc: ENST00000437836.2:c.-14-98C>A
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369399
  ensembl transcript: ENST00000380059
  gene symbol: SLC4A11
  hgvsc: ENST00000380059.3:c.173-98C>A
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369396
  ensembl transcript: ENST00000380056
  gene symbol: SLC4A11
  hgvsc: ENST00000380056.3:c.-7C>A
  variant of: http://identifiers.org/hgnc/16438
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3719
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5834
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2368
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5652
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3184
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5611
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5991
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4634
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1208
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 1163
  bin: 7.75e1
  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: 51827
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 1536
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

20-3218332-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3218332
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3218332
    reference: chr 20
allele count: 1
allele frequency: 8.243887157672586e-6
allele num: 121302
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369396
  ensembl transcript: ENST00000380056
  gene symbol: SLC4A11
  hgvsc: ENST00000380056.3:c.-7C>G
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369399
  ensembl transcript: ENST00000380059
  gene symbol: SLC4A11
  hgvsc: ENST00000380059.3:c.173-98C>G
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.44-98C>G
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000404271
  ensembl transcript: ENST00000437836
  gene symbol: SLC4A11
  hgvsc: ENST00000437836.2:c.-14-98C>G
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.-14-98C>G
  variant of: http://identifiers.org/hgnc/16438
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5652
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5991
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2968
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5611
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2368
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1536
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1208
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP

20-3218343-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3218343
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3218343
    reference: chr 20
allele count: 1
allele frequency: 8.244974687927709e-6
allele num: 121286
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369399
  ensembl transcript: ENST00000380059
  gene symbol: SLC4A11
  hgvsc: ENST00000380059.3:c.173-109C>G
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.44-109C>G
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.-14-109C>G
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000404271
  ensembl transcript: ENST00000437836
  gene symbol: SLC4A11
  hgvsc: ENST00000437836.2:c.-14-109C>G
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369396
  ensembl transcript: ENST00000380056
  gene symbol: SLC4A11
  hgvsc: ENST00000380056.3:c.-18C>G
  variant of: http://identifiers.org/hgnc/16438
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4635
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3187
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4155
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5613
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5990
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5834
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5072
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2357
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5232
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5651
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3717
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1206
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1870
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1159
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1067
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51824
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/20-3218348-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3218348
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3218348
    reference: chr 20
allele count: 4
allele frequency: 3.298751422586551e-5
allele num: 121258
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369399
  ensembl transcript: ENST00000380059
  gene symbol: SLC4A11
  hgvsc: ENST00000380059.3:c.173-114G>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.-14-114G>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369396
  ensembl transcript: ENST00000380056
  gene symbol: SLC4A11
  hgvsc: ENST00000380056.3:c.-23G>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.44-114G>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000404271
  ensembl transcript: ENST00000437836
  gene symbol: SLC4A11
  hgvsc: ENST00000437836.2:c.-14-114G>T
  variant of: http://identifiers.org/hgnc/16438
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3182
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4635
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2336
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5233
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5651
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5075
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5609
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5990
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3717
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5831
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1542
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1157
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1031
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51822
  bin: 9.75e1
  variant carriers: 4
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

20-3218351-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3218351
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3218351
    reference: chr 20
allele count: 1
allele frequency: 8.247558722618106e-6
allele num: 121248
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369399
  ensembl transcript: ENST00000380059
  gene symbol: SLC4A11
  hgvsc: ENST00000380059.3:c.173-117G>A
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.-14-117G>A
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.44-117G>A
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369396
  ensembl transcript: ENST00000380056
  gene symbol: SLC4A11
  hgvsc: ENST00000380056.3:c.-26G>A
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000404271
  ensembl transcript: ENST00000437836
  gene symbol: SLC4A11
  hgvsc: ENST00000437836.2:c.-14-117G>A
  variant of: http://identifiers.org/hgnc/16438
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5075
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5609
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5832
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4633
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5647
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3174
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2967
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3717
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4152
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5990
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1207
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1539
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
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genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1628
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1154
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 875
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

20-3218355-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3218355
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3218355
    reference: chr 20
allele count: 49893
allele frequency: 4.119235151335018e-1
allele num: 121122
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.-14-121G>C
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000404271
  ensembl transcript: ENST00000437836
  gene symbol: SLC4A11
  hgvsc: ENST00000437836.2:c.-14-121G>C
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.44-121G>C
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369396
  ensembl transcript: ENST00000380056
  gene symbol: SLC4A11
  hgvsc: ENST00000380056.3:c.-30G>C
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369399
  ensembl transcript: ENST00000380059
  gene symbol: SLC4A11
  hgvsc: ENST00000380059.3:c.173-121G>C
  variant of: http://identifiers.org/hgnc/16438
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 3.75e1
  variant carriers: 804
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 2.25e1
  variant carriers: 293
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.25e1
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 3.25e1
  variant carriers: 549
genotype depth: GenotypeDepth
  all individuals: 4657
  bin: 5.75e1
  variant carriers: 2285
genotype depth: GenotypeDepth
  all individuals: 4111
  bin: 8.25e1
  variant carriers: 3238
genotype depth: GenotypeDepth
  all individuals: 3515
  bin: 8.75e1
  variant carriers: 2929
genotype depth: GenotypeDepth
  all individuals: 4255
  bin: 5.25e1
  variant carriers: 1835
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 2.75e1
  variant carriers: 386
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2681
  bin: 4.25e1
  variant carriers: 949
genotype depth: GenotypeDepth
  all individuals: 4831
  bin: 6.25e1
  variant carriers: 2655
genotype depth: GenotypeDepth
  all individuals: 4485
  bin: 7.75e1
  variant carriers: 3307
genotype depth: GenotypeDepth
  all individuals: 2871
  bin: 9.25e1
  variant carriers: 2456
genotype depth: GenotypeDepth
  all individuals: 5059
  bin: 6.75e1
  variant carriers: 3161
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.75e1
  variant carriers: 143
genotype depth: GenotypeDepth
  all individuals: 10481
  bin: 9.75e1
  variant carriers: 9388
genotype depth: GenotypeDepth
  all individuals: 4793
  bin: 7.25e1
  variant carriers: 3369
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 4.75e1
  variant carriers: 1367
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.25e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 55002
  bin: 9.75e1
  variant carriers: 38684
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 6.25e1
  variant carriers: 36
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 9.25e1
  variant carriers: 70
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 7.75e1
  variant carriers: 75
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 7.25e1
  variant carriers: 42
num of homozygotes: 10717
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

20-3218355-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3218355
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3218355
    reference: chr 20
allele count: 1
allele frequency: 8.256138438929344e-6
allele num: 121122
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000404271
  ensembl transcript: ENST00000437836
  gene symbol: SLC4A11
  hgvsc: ENST00000437836.2:c.-14-121G>A
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.44-121G>A
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369396
  ensembl transcript: ENST00000380056
  gene symbol: SLC4A11
  hgvsc: ENST00000380056.3:c.-30G>A
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369399
  ensembl transcript: ENST00000380059
  gene symbol: SLC4A11
  hgvsc: ENST00000380059.3:c.173-121G>A
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.-14-121G>A
  variant of: http://identifiers.org/hgnc/16438
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5059
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4793
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2681
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4485
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4831
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3515
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2871
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10481
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4657
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55002
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

20-3218375-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3218375
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3218375
    reference: chr 20
allele count: 1
allele frequency: 8.26296045347127e-6
allele num: 121022
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.-14-141C>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.44-141C>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369399
  ensembl transcript: ENST00000380059
  gene symbol: SLC4A11
  hgvsc: ENST00000380059.3:c.173-141C>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000404271
  ensembl transcript: ENST00000437836
  gene symbol: SLC4A11
  hgvsc: ENST00000437836.2:c.-14-141C>T
  variant of: http://identifiers.org/hgnc/16438
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2922
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4271
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2686
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3420
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6685
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5744
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7251
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5712
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4639
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2569
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6702
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2160
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43311
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2447
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1629
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1916
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD

20-3218501-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3218501
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3218501
    reference: chr 20
allele count: 0
allele frequency: 0.0e0
allele num: 17940
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.44-267C>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000404271
  ensembl transcript: ENST00000437836
  gene symbol: SLC4A11
  hgvsc: ENST00000437836.2:c.-14-267C>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369399
  ensembl transcript: ENST00000380059
  gene symbol: SLC4A11
  hgvsc: ENST00000380059.3:c.172+38C>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.-14-267C>T
  variant of: http://identifiers.org/hgnc/16438
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7990
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33037
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6240
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31839
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2122
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1037
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1170
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff

20-3218510-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3218510
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3218510
    reference: chr 20
allele count: 5
allele frequency: 2.918515059537707e-4
allele num: 17132
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.44-276T>C
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000404271
  ensembl transcript: ENST00000437836
  gene symbol: SLC4A11
  hgvsc: ENST00000437836.2:c.-14-276T>C
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.-14-276T>C
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369399
  ensembl transcript: ENST00000380059
  gene symbol: SLC4A11
  hgvsc: ENST00000380059.3:c.172+29T>C
  variant of: http://identifiers.org/hgnc/16438
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5885
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32053
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 835
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2894
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30735
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1974
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4497
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
population: Latino
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

20-3218511-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3218511
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3218511
    reference: chr 20
allele count: 0
allele frequency: 0.0e0
allele num: 17114
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000404271
  ensembl transcript: ENST00000437836
  gene symbol: SLC4A11
  hgvsc: ENST00000437836.2:c.-14-277A>G
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369399
  ensembl transcript: ENST00000380059
  gene symbol: SLC4A11
  hgvsc: ENST00000380059.3:c.172+28A>G
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.-14-277A>G
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.44-277A>G
  variant of: http://identifiers.org/hgnc/16438
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32099
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5866
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1175
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2927
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1845
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4584
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

20-3218512-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3218512
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3218512
    reference: chr 20
allele count: 1
allele frequency: 5.885815185403178e-5
allele num: 16990
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.-14-278C>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.44-278C>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000404271
  ensembl transcript: ENST00000437836
  gene symbol: SLC4A11
  hgvsc: ENST00000437836.2:c.-14-278C>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369399
  ensembl transcript: ENST00000380059
  gene symbol: SLC4A11
  hgvsc: ENST00000380059.3:c.172+27C>T
  variant of: http://identifiers.org/hgnc/16438
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5695
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31885
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1176
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1928
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2937
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30681
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 185
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 255
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP

20-3218514-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3218514
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3218514
    reference: chr 20
allele count: 1
allele frequency: 5.958055290753098e-5
allele num: 16784
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000404271
  ensembl transcript: ENST00000437836
  gene symbol: SLC4A11
  hgvsc: ENST00000437836.2:c.-14-280G>A
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.-14-280G>A
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369399
  ensembl transcript: ENST00000380059
  gene symbol: SLC4A11
  hgvsc: ENST00000380059.3:c.172+25G>A
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.44-280G>A
  variant of: http://identifiers.org/hgnc/16438
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5266
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31398
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2081
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1985
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3993
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 30091
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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: 1176
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 371
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 236
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 697
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genotype quality: GenotypeQuality
  all individuals: 245
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

20-3218515-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3218515
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3218515
    reference: chr 20
allele count: 1
allele frequency: 5.965163445478406e-5
allele num: 16764
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369399
  ensembl transcript: ENST00000380059
  gene symbol: SLC4A11
  hgvsc: ENST00000380059.3:c.172+24A>C
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.-14-281A>C
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.44-281A>C
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000404271
  ensembl transcript: ENST00000437836
  gene symbol: SLC4A11
  hgvsc: ENST00000437836.2:c.-14-281A>C
  variant of: http://identifiers.org/hgnc/16438
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
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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: 1339
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
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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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  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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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3902
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2958
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/20-3218522-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3218522
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3218522
    reference: chr 20
allele count: 0
allele frequency: 0.0e0
allele num: 16254
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.-14-288G>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000404271
  ensembl transcript: ENST00000437836
  gene symbol: SLC4A11
  hgvsc: ENST00000437836.2:c.-14-288G>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.44-288G>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369399
  ensembl transcript: ENST00000380059
  gene symbol: SLC4A11
  hgvsc: ENST00000380059.3:c.172+17G>T
  variant of: http://identifiers.org/hgnc/16438
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3931
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28868
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2961
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1176
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2912
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2192
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27242
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum

20-3218523-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3218523
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3218523
    reference: chr 20
allele count: 1
allele frequency: 6.156877231867996e-5
allele num: 16242
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369399
  ensembl transcript: ENST00000380059
  gene symbol: SLC4A11
  hgvsc: ENST00000380059.3:c.172+16C>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.-14-289C>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.44-289C>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000404271
  ensembl transcript: ENST00000437836
  gene symbol: SLC4A11
  hgvsc: ENST00000437836.2:c.-14-289C>T
  variant of: http://identifiers.org/hgnc/16438
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2142
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3912
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28935
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2978
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1178
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 974
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2059
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27467
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3009
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: G
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

20-3218535-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3218535
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3218535
    reference: chr 20
allele count: 5
allele frequency: 3.171783811215427e-4
allele num: 15764
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000404271
  ensembl transcript: ENST00000437836
  gene symbol: SLC4A11
  hgvsc: ENST00000437836.2:c.-14-301C>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369399
  ensembl transcript: ENST00000380059
  gene symbol: SLC4A11
  hgvsc: ENST00000380059.3:c.172+4C>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.44-301C>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.-14-301C>T
  variant of: http://identifiers.org/hgnc/16438
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25133
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2829
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1605
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3113
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 178
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 23957
  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 390
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2240
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genotype quality: GenotypeQuality
  all individuals: 382
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
hgvs: c.172+4C>T
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ

20-3218555-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3218555
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3218555
    reference: chr 20
allele count: 4
allele frequency: 2.627085248916327e-4
allele num: 15226
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.-14-321C>A
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369399
  ensembl transcript: ENST00000380059
  gene symbol: SLC4A11
  hgvsc: ENST00000380059.3:c.156C>A
  hgvsp: ENST00000380059.3:c.156C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.44-321C>A
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000404271
  ensembl transcript: ENST00000437836
  gene symbol: SLC4A11
  hgvsc: ENST00000437836.2:c.-14-321C>A
  variant of: http://identifiers.org/hgnc/16438
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2190
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16389
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15099
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1238
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3147
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1499
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr52Thr
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff

20-3218556-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3218556
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3218556
    reference: chr 20
allele count: 4
allele frequency: 2.634351949420442e-4
allele num: 15184
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.-14-322C>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369399
  ensembl transcript: ENST00000380059
  gene symbol: SLC4A11
  hgvsc: ENST00000380059.3:c.155C>T
  hgvsp: ENSP00000369399.3:p.Thr52Ile
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000404271
  ensembl transcript: ENST00000437836
  gene symbol: SLC4A11
  hgvsc: ENST00000437836.2:c.-14-322C>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.44-322C>T
  variant of: http://identifiers.org/hgnc/16438
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15691
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2191
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1638
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 996
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1182
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1151
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14269
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3137
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr52Ile
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

20-3218563-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3218563
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3218563
    reference: chr 20
allele count: 908
allele frequency: 5.937745226262098e-2
allele num: 15292
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369399
  ensembl transcript: ENST00000380059
  gene symbol: SLC4A11
  hgvsc: ENST00000380059.3:c.148A>G
  hgvsp: ENSP00000369399.3:p.Arg50Gly
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.44-329A>G
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.-14-329A>G
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000404271
  ensembl transcript: ENST00000437836
  gene symbol: SLC4A11
  hgvsc: ENST00000437836.2:c.-14-329A>G
  variant of: http://identifiers.org/hgnc/16438
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 3.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 13126
  bin: 2.5e0
  variant carriers: 157
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 1.25e1
  variant carriers: 89
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 2058
  bin: 2.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 3.75e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.75e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.25e1
  variant carriers: 69
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 2.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.75e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 7.5e0
  variant carriers: 212
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 4.25e1
  variant carriers: 62
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 8.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 1.25e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 2984
  bin: 6.25e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 7.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 9.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 938
  bin: 6.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 11194
  bin: 7.5e0
  variant carriers: 76
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.75e1
  variant carriers: 43
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 1.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 2144
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 7.25e1
  variant carriers: 10
hgvs: p.Arg50Gly
num of homozygotes: 33
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/20-3218570-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3218570
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3218570
    reference: chr 20
allele count: 1
allele frequency: 6.690753378830456e-5
allele num: 14946
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000404271
  ensembl transcript: ENST00000437836
  gene symbol: SLC4A11
  hgvsc: ENST00000437836.2:c.-14-336T>G
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.44-336T>G
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.-14-336T>G
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369399
  ensembl transcript: ENST00000380059
  gene symbol: SLC4A11
  hgvsc: ENST00000380059.3:c.141T>G
  hgvsp: ENST00000380059.3:c.141T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16438
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2165
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11240
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3040
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2905
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8716
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly47Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

20-3218587-CGA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3218587
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3218585
    reference: chr 20
allele count: 2
allele frequency: 1.315097317201473e-4
allele num: 15208
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.44-355_44-354delTC
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.-14-355_-14-354delTC
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000404271
  ensembl transcript: ENST00000437836
  gene symbol: SLC4A11
  hgvsc: ENST00000437836.2:c.-14-355_-14-354delTC
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369399
  ensembl transcript: ENST00000380059
  gene symbol: SLC4A11
  hgvsc: ENST00000380059.3:c.122_123delTC
  hgvsp: ENSP00000369399.3:p.Leu41ArgfsTer14
  variant of: http://identifiers.org/hgnc/16438
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8583
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2245
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3213
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7775
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu41ArgfsTer14
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: CGA
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

20-3218588-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3218588
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3218588
    reference: chr 20
allele count: 1
allele frequency: 6.575486586007364e-5
allele num: 15208
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.44-354C>A
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.-14-354C>A
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000404271
  ensembl transcript: ENST00000437836
  gene symbol: SLC4A11
  hgvsc: ENST00000437836.2:c.-14-354C>A
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369399
  ensembl transcript: ENST00000380059
  gene symbol: SLC4A11
  hgvsc: ENST00000380059.3:c.123C>A
  hgvsp: ENST00000380059.3:c.123C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16438
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8059
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2244
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 841
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7231
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3197
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu41Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ

20-3218602-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3218602
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3218602
    reference: chr 20
allele count: 4
allele frequency: 2.630540576088386e-4
allele num: 15206
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369399
  ensembl transcript: ENST00000380059
  gene symbol: SLC4A11
  hgvsc: ENST00000380059.3:c.109C>T
  hgvsp: ENSP00000369399.3:p.Arg37Trp
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.44-368C>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.-14-368C>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000404271
  ensembl transcript: ENST00000437836
  gene symbol: SLC4A11
  hgvsc: ENST00000437836.2:c.-14-368C>T
  variant of: http://identifiers.org/hgnc/16438
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5427
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4547
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 905
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3029
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 985
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg37Trp
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

20-3218604-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3218604
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3218604
    reference: chr 20
allele count: 1
allele frequency: 6.568575932737782e-5
allele num: 15224
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.44-370C>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000404271
  ensembl transcript: ENST00000437836
  gene symbol: SLC4A11
  hgvsc: ENST00000437836.2:c.-14-370C>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.-14-370C>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369399
  ensembl transcript: ENST00000380059
  gene symbol: SLC4A11
  hgvsc: ENST00000380059.3:c.107C>T
  hgvsp: ENSP00000369399.3:p.Ala36Val
  variant of: http://identifiers.org/hgnc/16438
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5519
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3076
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4681
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala36Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

20-3218607-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3218607
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3218607
    reference: chr 20
allele count: 1
allele frequency: 6.558237145855194e-5
allele num: 15248
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.44-373G>A
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000404271
  ensembl transcript: ENST00000437836
  gene symbol: SLC4A11
  hgvsc: ENST00000437836.2:c.-14-373G>A
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369399
  ensembl transcript: ENST00000380059
  gene symbol: SLC4A11
  hgvsc: ENST00000380059.3:c.104G>A
  hgvsp: ENSP00000369399.3:p.Arg35Gln
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.-14-373G>A
  variant of: http://identifiers.org/hgnc/16438
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2244
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5668
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 993
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4997
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3141
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg35Gln
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/20-3218611-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3218611
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3218611
    reference: chr 20
allele count: 1
allele frequency: 6.55307994757536e-5
allele num: 15260
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369399
  ensembl transcript: ENST00000380059
  gene symbol: SLC4A11
  hgvsc: ENST00000380059.3:c.100G>T
  hgvsp: ENSP00000369399.3:p.Ala34Ser
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.-14-377G>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.44-377G>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000404271
  ensembl transcript: ENST00000437836
  gene symbol: SLC4A11
  hgvsc: ENST00000437836.2:c.-14-377G>T
  variant of: http://identifiers.org/hgnc/16438
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5447
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3049
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4867
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1200
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ala34Ser
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

20-3218612-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3218612
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3218612
    reference: chr 20
allele count: 1
allele frequency: 6.551362683438155e-5
allele num: 15264
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.44-378C>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369399
  ensembl transcript: ENST00000380059
  gene symbol: SLC4A11
  hgvsc: ENST00000380059.3:c.99C>T
  hgvsp: ENST00000380059.3:c.99C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000404271
  ensembl transcript: ENST00000437836
  gene symbol: SLC4A11
  hgvsc: ENST00000437836.2:c.-14-378C>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.-14-378C>T
  variant of: http://identifiers.org/hgnc/16438
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5538
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2247
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1005
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5044
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3087
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1200
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Pro33Pro
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

20-3218634-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3218634
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3218634
    reference: chr 20
allele count: 9032
allele frequency: 5.711394966485392e-1
allele num: 15814
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.44-400C>G
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.-14-400C>G
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000404271
  ensembl transcript: ENST00000437836
  gene symbol: SLC4A11
  hgvsc: ENST00000437836.2:c.-14-400C>G
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369399
  ensembl transcript: ENST00000380059
  gene symbol: SLC4A11
  hgvsc: ENST00000380059.3:c.77C>G
  hgvsp: ENSP00000369399.3:p.Pro26Arg
  variant of: http://identifiers.org/hgnc/16438
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2603
  bin: 2.5e0
  variant carriers: 735
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 230
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 3.75e1
  variant carriers: 756
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.75e1
  variant carriers: 342
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 3.25e1
  variant carriers: 959
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 1.75e1
  variant carriers: 564
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.75e1
  variant carriers: 192
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 105
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 2.25e1
  variant carriers: 791
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 4.25e1
  variant carriers: 523
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 7.5e0
  variant carriers: 485
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 1.25e1
  variant carriers: 418
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 2.75e1
  variant carriers: 953
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.75e1
  variant carriers: 215
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 92
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.25e1
  variant carriers: 144
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 1.25e1
  variant carriers: 233
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.25e1
  variant carriers: 61
genotype quality: GenotypeQuality
  all individuals: 1559
  bin: 7.5e0
  variant carriers: 479
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 8.25e1
  variant carriers: 182
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 7.75e1
  variant carriers: 148
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 5.25e1
  variant carriers: 106
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.25e1
  variant carriers: 75
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 9.25e1
  variant carriers: 175
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 7.25e1
  variant carriers: 85
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.75e1
  variant carriers: 95
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 1.75e1
  variant carriers: 168
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.75e1
  variant carriers: 75
genotype quality: GenotypeQuality
  all individuals: 5274
  bin: 9.75e1
  variant carriers: 5237
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 6.75e1
  variant carriers: 143
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 8.75e1
  variant carriers: 93
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.75e1
  variant carriers: 75
hgvs: p.Pro26Arg
num of homozygotes: 2540
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

20-3218639-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3218639
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3218639
    reference: chr 20
allele count: 1
allele frequency: 7.047216349541931e-5
allele num: 14190
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.-14-405G>A
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000404271
  ensembl transcript: ENST00000437836
  gene symbol: SLC4A11
  hgvsc: ENST00000437836.2:c.-14-405G>A
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369399
  ensembl transcript: ENST00000380059
  gene symbol: SLC4A11
  hgvsc: ENST00000380059.3:c.72G>A
  hgvsp: ENSP00000369399.3:p.Trp24Ter
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.44-405G>A
  variant of: http://identifiers.org/hgnc/16438
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2466
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3422
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3897
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1895
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Trp24Ter
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff

20-3218643-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3218643
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3218643
    reference: chr 20
allele count: 1
allele frequency: 7.204610951008646e-5
allele num: 13880
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.-14-409C>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.44-409C>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000404271
  ensembl transcript: ENST00000437836
  gene symbol: SLC4A11
  hgvsc: ENST00000437836.2:c.-14-409C>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369399
  ensembl transcript: ENST00000380059
  gene symbol: SLC4A11
  hgvsc: ENST00000380059.3:c.68C>T
  hgvsp: ENSP00000369399.3:p.Pro23Leu
  variant of: http://identifiers.org/hgnc/16438
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4027
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3757
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3195
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2195
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro23Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

20-3218648-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3218648
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3218648
    reference: chr 20
allele count: 8
allele frequency: 5.956813104988831e-4
allele num: 13430
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.-14-414C>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000404271
  ensembl transcript: ENST00000437836
  gene symbol: SLC4A11
  hgvsc: ENST00000437836.2:c.-14-414C>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.44-414C>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369399
  ensembl transcript: ENST00000380059
  gene symbol: SLC4A11
  hgvsc: ENST00000380059.3:c.63C>T
  hgvsp: ENST00000380059.3:c.63C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16438
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3932
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1926
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3666
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2926
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2524
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro21Pro
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/20-3218663-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3218663
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3218663
    reference: chr 20
allele count: 1
allele frequency: 8.297378028542981e-5
allele num: 12052
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369399
  ensembl transcript: ENST00000380059
  gene symbol: SLC4A11
  hgvsc: ENST00000380059.3:c.48T>G
  hgvsp: ENSP00000369399.3:p.Asp16Glu
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000404271
  ensembl transcript: ENST00000437836
  gene symbol: SLC4A11
  hgvsc: ENST00000437836.2:c.-14-429T>G
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.-14-429T>G
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.44-429T>G
  variant of: http://identifiers.org/hgnc/16438
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3508
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2142
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3231
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3571
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1967
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asp16Glu
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

20-3218682-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3218682
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3218682
    reference: chr 20
allele count: 2
allele frequency: 2.055076037813399e-4
allele num: 9732
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.44-448C>A
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000404271
  ensembl transcript: ENST00000437836
  gene symbol: SLC4A11
  hgvsc: ENST00000437836.2:c.-14-448C>A
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369399
  ensembl transcript: ENST00000380059
  gene symbol: SLC4A11
  hgvsc: ENST00000380059.3:c.29C>A
  hgvsp: ENSP00000369399.3:p.Ser10Tyr
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.-14-448C>A
  variant of: http://identifiers.org/hgnc/16438
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3248
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2754
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2262
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2960
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1089
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4157
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser10Tyr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum

20-3218693-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3218693
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3218693
    reference: chr 20
allele count: 2
allele frequency: 2.389486260454002e-4
allele num: 8370
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369399
  ensembl transcript: ENST00000380059
  gene symbol: SLC4A11
  hgvsc: ENST00000380059.3:c.18C>T
  hgvsp: ENST00000380059.3:c.18C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000404271
  ensembl transcript: ENST00000437836
  gene symbol: SLC4A11
  hgvsc: ENST00000437836.2:c.-14-459C>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.44-459C>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.-14-459C>T
  variant of: http://identifiers.org/hgnc/16438
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3703
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2935
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3533
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4042
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 935
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro6Pro
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

20-3218743-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3218743
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3218743
    reference: chr 20
allele count: 0
allele frequency: 0.0e0
allele num: 4304
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000404271
  ensembl transcript: ENST00000437836
  gene symbol: SLC4A11
  hgvsc: ENST00000437836.2:c.-15+451C>A
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369399
  ensembl transcript: ENST00000380059
  gene symbol: SLC4A11
  hgvsc: ENST00000380059.3:c.-33C>A
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.-14-509C>A
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.44-509C>A
  variant of: http://identifiers.org/hgnc/16438
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6200
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5431
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1003
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1327
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

20-3218748-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3218748
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3218748
    reference: chr 20
allele count: 2
allele frequency: 4.930966469428008e-4
allele num: 4056
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.-14-514C>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.44-514C>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000404271
  ensembl transcript: ENST00000437836
  gene symbol: SLC4A11
  hgvsc: ENST00000437836.2:c.-15+446C>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000369399
  ensembl transcript: ENST00000380059
  gene symbol: SLC4A11
  hgvsc: ENST00000380059.3:c.-38C>T
  variant of: http://identifiers.org/hgnc/16438
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6255
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1450
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 931
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5097
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

20-3219692-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3219692
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3219692
    reference: chr 20
allele count: 2534
allele frequency: 2.471230739223718e-1
allele num: 10254
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.43+49G>A
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.-81G>A
  variant of: http://identifiers.org/hgnc/16438
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.5e0
  variant carriers: 78
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.25e1
  variant carriers: 193
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 2.25e1
  variant carriers: 387
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 1.75e1
  variant carriers: 235
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 1.25e1
  variant carriers: 134
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 2.5e0
  variant carriers: 106
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 3.75e1
  variant carriers: 291
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 3.25e1
  variant carriers: 331
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 71
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 2.75e1
  variant carriers: 340
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 4.75e1
  variant carriers: 131
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 7.5e0
  variant carriers: 72
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 4.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 1319
  bin: 6.25e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 5.25e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 7.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 9.25e1
  variant carriers: 34
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 6.75e1
  variant carriers: 34
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 8.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 2099
  bin: 9.75e1
  variant carriers: 1974
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 8.25e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 7.75e1
  variant carriers: 23
num of homozygotes: 330
population: Latino
  type: Population
  allele count: 22
  allele frequency: 2.5e-1
  allele num: 88
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD

20-3219698-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3219698
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3219698
    reference: chr 20
allele count: 1
allele frequency: 9.723842862699339e-5
allele num: 10284
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.-87G>A
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.43+43G>A
  variant of: http://identifiers.org/hgnc/16438
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 4.25e1
  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 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
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 188
  num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

20-3219701-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3219701
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3219701
    reference: chr 20
allele count: 1
allele frequency: 9.716284492809949e-5
allele num: 10292
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.-90C>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.43+40C>T
  variant of: http://identifiers.org/hgnc/16438
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 116
  num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

20-3219718-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3219718
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3219718
    reference: chr 20
allele count: 1
allele frequency: 9.643201542912247e-5
allele num: 10370
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.-107G>A
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.43+23G>A
  variant of: http://identifiers.org/hgnc/16438
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  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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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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num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 188
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

20-3219732-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3219732
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3219732
    reference: chr 20
allele count: 1
allele frequency: 9.551098376313276e-5
allele num: 10470
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.43+9C>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.-121C>T
  variant of: http://identifiers.org/hgnc/16438
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 132
  num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

20-3219745-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3219745
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3219745
    reference: chr 20
allele count: 0
allele frequency: 0.0e0
allele num: 10512
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.-134G>A
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.39G>A
  hgvsp: ENST00000539553.2:c.39G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16438
canonical: false
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
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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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1454
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3379
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro13Pro
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7374
  num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

20-3219785-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3219785
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3219785
    reference: chr 20
allele count: 1
allele frequency: 9.580379383023568e-5
allele num: 10438
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.-174C>T
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.-2C>T
  variant of: http://identifiers.org/hgnc/16438
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1347
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3239
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 90
  num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

20-3219801-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3219801
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3219801
    reference: chr 20
allele count: 16
allele frequency: 1.567398119122257e-3
allele num: 10208
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000476859
  ensembl transcript: ENST00000474451
  gene symbol: SLC4A11
  hgvsc: ENST00000474451.1:c.-190T>C
  variant of: http://identifiers.org/hgnc/16438
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000088836
  ensembl protein: ENSP00000441370
  ensembl transcript: ENST00000539553
  gene symbol: SLC4A11
  hgvsc: ENST00000539553.2:c.-18T>C
  variant of: http://identifiers.org/hgnc/16438
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: A

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

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

GenotypeQuality
all individuals: 1137
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2051
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 673
bin: 7.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 4.014735e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

MQRankSum
type: SiteQuality
SIO_000300: 3.08e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.48e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

QD
type: SiteQuality
SIO_000300: 1.092e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.13e-1

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1137
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1160
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1542
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.624639076034648e-5
allele num: 10390
num of homozygotes: 0

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

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 2.48e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.13e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e0

DP
type: SiteQuality
SIO_000300: 4.014735e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

QD
type: SiteQuality
SIO_000300: 1.092e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

GenotypeQuality
all individuals: 673
bin: 7.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 1201
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1136
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.995743022454058e-5
allele num: 66714
num of homozygotes: 0

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 4.01488e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.59e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.82e0

QD
type: SiteQuality
SIO_000300: 1.326e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.75e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

MQRankSum
type: SiteQuality
SIO_000300: 1.1e-1

GenotypeQuality
all individuals: 677
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 34
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51844
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 27
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1543
bin: 9.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997691777331455e-5
allele num: 66718
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.644e0

VQSLOD
type: SiteQuality
SIO_000300: 1.74e0

MQ
type: SiteQuality
SIO_000300: 5.981e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.83e-1

DP
type: SiteQuality
SIO_000300: 4.014885e6

MQRankSum
type: SiteQuality
SIO_000300: -4.46e-1

QD
type: SiteQuality
SIO_000300: 1.457e1

FS
type: SiteQuality
SIO_000300: 1.564e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.19e-1

GenotypeQuality
all individuals: 1137
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1541
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1201
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 675
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51843
bin: 9.75e1
variant carriers: 2

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

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

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

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

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

East Asian
type: Population
allele count: 2
allele frequency: 2.311604253351826e-4
allele num: 8652
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.26e0

QD
type: SiteQuality
SIO_000300: 1.264e1

VQSLOD
type: SiteQuality
SIO_000300: 5.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.971e1

MQRankSum
type: SiteQuality
SIO_000300: -9.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.83e-1

DP
type: SiteQuality
SIO_000300: 4.014918e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.45e-1

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

GenotypeQuality
all individuals: 53
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 677
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1202
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1540
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1163
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

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

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 2.34e-1

FS
type: SiteQuality
SIO_000300: 6.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 6.899999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

DP
type: SiteQuality
SIO_000300: 4.014737e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.674e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.31e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

QD
type: SiteQuality
SIO_000300: 1.255e1

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

GenotypeQuality
all individuals: 29
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1136
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2062
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1202
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 676
bin: 7.25e1
variant carriers: 0

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

East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
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Other
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MQRankSum
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SIO_000300: 2.9e-2

InbreedingCoeff
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ClippingRankSum
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DP
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VQSLOD
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QD
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ReadPosRankSum
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MQ
type: SiteQuality
SIO_000300: 5.961e1

BaseQRankSum
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SIO_000300: -9.56e-1

FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 3.56111645813282e-3
allele num: 10390
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Latino
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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East Asian
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allele num: 8652
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Other
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ClippingRankSum
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SIO_000300: -2.08e-1

ReadPosRankSum
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QD
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FS
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InbreedingCoeff
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VQSLOD
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MQ
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MQRankSum
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DP
type: SiteQuality
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 9.622786759045419e-5
allele num: 10392
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 1.155802126675913e-4
allele num: 8652
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66710
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

African
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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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East Asian
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South Asian
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allele frequency: 0.0e0
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Latino
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Other
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ClippingRankSum
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QD
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ReadPosRankSum
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MQRankSum
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FS
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InbreedingCoeff
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DP
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BaseQRankSum
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MQ
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66704
num of homozygotes: 0

East Asian
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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Latino
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South Asian
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InbreedingCoeff
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DP
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FS
type: SiteQuality
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QD
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MQRankSum
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MQ
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
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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South Asian
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European (Non-Finnish)
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allele num: 66704
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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South Asian
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FS
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DP
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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VQSLOD
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QD
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InbreedingCoeff
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MQ
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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Latino
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African
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East Asian
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European (Non-Finnish)
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allele frequency: 5.99592277251469e-5
allele num: 66712
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South Asian
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Other
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ReadPosRankSum
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FS
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DP
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VQSLOD
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MQ
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Non-Finnish)
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African
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European (Finnish)
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East Asian
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FS
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MQRankSum
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MQ
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VQSLOD
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InbreedingCoeff
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DP
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BaseQRankSum
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QD
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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Other
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European (Non-Finnish)
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African
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South Asian
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ReadPosRankSum
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DP
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InbreedingCoeff
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QD
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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FS
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MQ
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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South Asian
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African
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European (Non-Finnish)
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Latino
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DP
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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MQ
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FS
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ReadPosRankSum
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VQSLOD
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QD
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

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

South Asian
type: Population
allele count: 6
allele frequency: 3.633720930232558e-4
allele num: 16512
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.04e-1

QD
type: SiteQuality
SIO_000300: 1.309e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.79e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.75e-1

DP
type: SiteQuality
SIO_000300: 4.014527e6

MQ
type: SiteQuality
SIO_000300: 5.968e1

FS
type: SiteQuality
SIO_000300: 3.47e0

MQRankSum
type: SiteQuality
SIO_000300: 7.73e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.09e-1

GenotypeQuality
all individuals: 1532
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1895
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1154
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1205
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.350864553314121e-4
allele num: 66624
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 3.303964757709251e-3
allele num: 908
num of homozygotes: 0

Latino
type: Population
allele count: 37
allele frequency: 3.197372969236087e-3
allele num: 11572
num of homozygotes: 0

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e-1

DP
type: SiteQuality
SIO_000300: 4.018482e6

QD
type: SiteQuality
SIO_000300: 1.03e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.014e0

VQSLOD
type: SiteQuality
SIO_000300: 2.39e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

MQRankSum
type: SiteQuality
SIO_000300: 4.13e-1

FS
type: SiteQuality
SIO_000300: 2.577e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

GenotypeQuality
all individuals: 874
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1154
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 51831
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1895
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.502881844380403e-5
allele num: 66624
num of homozygotes: 0

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.39e0

DP
type: SiteQuality
SIO_000300: 4.018482e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.014e0

FS
type: SiteQuality
SIO_000300: 2.577e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.03e1

MQ
type: SiteQuality
SIO_000300: 5.961e1

MQRankSum
type: SiteQuality
SIO_000300: 4.13e-1

GenotypeQuality
all individuals: 1158
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1535
bin: 9.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66682
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 6
allele frequency: 5.774783445620789e-4
allele num: 10390
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.967e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.99e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.98e-1

QD
type: SiteQuality
SIO_000300: 1.269e1

DP
type: SiteQuality
SIO_000300: 4.013905e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.91e0

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

GenotypeQuality
all individuals: 1158
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1535
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51832
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 876
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.998620317327015e-5
allele num: 66682
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

DP
type: SiteQuality
SIO_000300: 4.013905e6

VQSLOD
type: SiteQuality
SIO_000300: 4.91e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.99e0

QD
type: SiteQuality
SIO_000300: 1.269e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.42e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.98e-1

GenotypeQuality
all individuals: 1206
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1535
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51828
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1103
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66682
num of homozygotes: 0

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

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.975e1

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

QD
type: SiteQuality
SIO_000300: 1.275e1

FS
type: SiteQuality
SIO_000300: 4.888e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.57e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -6.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.22e-1

DP
type: SiteQuality
SIO_000300: 4.013373e6

GenotypeQuality
all individuals: 670
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51827
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 877
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 53
bin: 2.75e1
variant carriers: 0

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

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

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

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.111e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.692e0

MQRankSum
type: SiteQuality
SIO_000300: 2.86e-1

FS
type: SiteQuality
SIO_000300: 8.66e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.4e-1

MQ
type: SiteQuality
SIO_000300: 5.981e1

DP
type: SiteQuality
SIO_000300: 4.013289e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.04e0

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

GenotypeQuality
all individuals: 1980
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.75e1
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GenotypeQuality
all individuals: 1536
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 877
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 3.75e1
variant carriers: 0

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

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

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 4.013214e6

MQ
type: SiteQuality
SIO_000300: 5.922e1

VQSLOD
type: SiteQuality
SIO_000300: -1.8e0

FS
type: SiteQuality
SIO_000300: 1.5064e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.748e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.232e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.46e-1

GenotypeQuality
all individuals: 1980
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1535
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 666
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1103
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 877
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1208
bin: 8.25e1
variant carriers: 0

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

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

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -2.108e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 7.44e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.144e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.39e0

FS
type: SiteQuality
SIO_000300: 5.489e0

DP
type: SiteQuality
SIO_000300: 4.013012e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e0

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

GenotypeQuality
all individuals: 1985
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1163
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51827
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1208
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 877
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499970000599988e-5
allele num: 66668
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.421e1

MQRankSum
type: SiteQuality
SIO_000300: -6.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.88e-1

MQ
type: SiteQuality
SIO_000300: 5.946e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.23e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.08e0

FS
type: SiteQuality
SIO_000300: 6.392e0

DP
type: SiteQuality
SIO_000300: 4.012958e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

GenotypeQuality
all individuals: 23
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1206
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499970000599988e-5
allele num: 66668
num of homozygotes: 0

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

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 8.699e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.1e-2

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.949e1

VQSLOD
type: SiteQuality
SIO_000300: 8.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.121e1

DP
type: SiteQuality
SIO_000300: 4.012954e6

GenotypeQuality
all individuals: 60
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1938
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 877
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1166
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.25e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500060002400096e-5
allele num: 66664
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.435e0

FS
type: SiteQuality
SIO_000300: 9.983000000000001e0

DP
type: SiteQuality
SIO_000300: 4.012686e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.653e0

QD
type: SiteQuality
SIO_000300: 1.65e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

MQ
type: SiteQuality
SIO_000300: 5.849e1

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -8.110000000000001e-1

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

GenotypeQuality
all individuals: 662
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 1536
bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500195025353296e-5
allele num: 66658
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 6.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.7e-2

VQSLOD
type: SiteQuality
SIO_000300: -7.599e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.42e-1

DP
type: SiteQuality
SIO_000300: 4.012366e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.4e-2

MQ
type: SiteQuality
SIO_000300: 5.795e1

QD
type: SiteQuality
SIO_000300: 1.271e1

GenotypeQuality
all individuals: 37
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 663
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500285054160291e-5
allele num: 66654
num of homozygotes: 0

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

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 5.31e-1

MQ
type: SiteQuality
SIO_000300: 5.885e1

DP
type: SiteQuality
SIO_000300: 4.012246e6

FS
type: SiteQuality
SIO_000300: 3.367e0

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.580000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.515e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.66e-1

QD
type: SiteQuality
SIO_000300: 1.707e1

GenotypeQuality
all individuals: 1889
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51827
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1088
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variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1163
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66654
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 5.31e-1

FS
type: SiteQuality
SIO_000300: 3.367e0

VQSLOD
type: SiteQuality
SIO_000300: -1.515e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.580000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -8.66e-1

QD
type: SiteQuality
SIO_000300: 1.707e1

MQ
type: SiteQuality
SIO_000300: 5.885e1

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

DP
type: SiteQuality
SIO_000300: 4.012246e6

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 39
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variant carriers: 0

GenotypeQuality
all individuals: 1543
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 7.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.462e0

DP
type: SiteQuality
SIO_000300: 4.011282e6

MQ
type: SiteQuality
SIO_000300: 5.918e1

VQSLOD
type: SiteQuality
SIO_000300: -5.5e-3

FS
type: SiteQuality
SIO_000300: 1.601e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.79e-1

QD
type: SiteQuality
SIO_000300: 8.699999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

GenotypeQuality
all individuals: 77
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
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variant carriers: 0

GenotypeQuality
all individuals: 665
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variant carriers: 0

GenotypeQuality
all individuals: 874
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variant carriers: 0

GenotypeQuality
all individuals: 1685
bin: 6.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 4
allele frequency: 3.459010722933241e-4
allele num: 11564
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66624
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.86e-1

FS
type: SiteQuality
SIO_000300: 2.304e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

VQSLOD
type: SiteQuality
SIO_000300: 7.03e-1

QD
type: SiteQuality
SIO_000300: 1.205e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.266e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.83e-1

DP
type: SiteQuality
SIO_000300: 4.009721e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.2e-2

GenotypeQuality
all individuals: 103
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 661
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51813
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 97
bin: 2.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501140867058965e-5
allele num: 66616
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 4.008859e6

MQRankSum
type: SiteQuality
SIO_000300: 6.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.064e0

FS
type: SiteQuality
SIO_000300: 3.542e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.46e-1

QD
type: SiteQuality
SIO_000300: 1.456e1

GenotypeQuality
all individuals: 639
bin: 6.75e1
variant carriers: 54

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 4

GenotypeQuality
all individuals: 542
bin: 8.75e1
variant carriers: 55

GenotypeQuality
all individuals: 777
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variant carriers: 60

GenotypeQuality
all individuals: 40
bin: 4.25e1
variant carriers: 10

East Asian
type: Population
allele count: 4754
allele frequency: 5.527906976744186e-1
allele num: 8600
num of homozygotes: 1308

African
type: Population
allele count: 5859
allele frequency: 5.642334360554699e-1
allele num: 10384
num of homozygotes: 1649

European (Finnish)
type: Population
allele count: 3276
allele frequency: 4.959128065395095e-1
allele num: 6606
num of homozygotes: 794

Latino
type: Population
allele count: 5217
allele frequency: 4.521580863234529e-1
allele num: 11538
num of homozygotes: 1182

European (Non-Finnish)
type: Population
allele count: 25463
allele frequency: 3.824077133331331e-1
allele num: 66586
num of homozygotes: 4934

Other
type: Population
allele count: 395
allele frequency: 4.379157427937916e-1
allele num: 902
num of homozygotes: 90

South Asian
type: Population
allele count: 4929
allele frequency: 2.986186841148673e-1
allele num: 16506
num of homozygotes: 760

ClippingRankSum
type: SiteQuality
SIO_000300: -3.62e-1

DP
type: SiteQuality
SIO_000300: 4.359882e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.09e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.8e-2

QD
type: SiteQuality
SIO_000300: 2.007e1

VQSLOD
type: SiteQuality
SIO_000300: 3.04e0

FS
type: SiteQuality
SIO_000300: 1.772e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.88e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

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

GenotypeQuality
all individuals: 777
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 772
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variant carriers: 0

GenotypeQuality
all individuals: 1049
bin: 9.25e1
variant carriers: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501817198810561e-5
allele num: 66586
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.09e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.8e-2

MQ
type: SiteQuality
SIO_000300: 5.969e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.26e0

DP
type: SiteQuality
SIO_000300: 4.359882e6

FS
type: SiteQuality
SIO_000300: 1.772e0

VQSLOD
type: SiteQuality
SIO_000300: 3.04e0

QD
type: SiteQuality
SIO_000300: 2.007e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.62e-1

GenotypeQuality
all individuals: 1159
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2683
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3243
bin: 9.25e1
variant carriers: 0

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

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504981488727689e-5
allele num: 66446
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 3.422485e6

FS
type: SiteQuality
SIO_000300: 4.099e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.51e-1

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

QD
type: SiteQuality
SIO_000300: 1.635e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e0

MQRankSum
type: SiteQuality
SIO_000300: -2.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.13e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2733
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 468
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6748
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1514
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 388
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8004
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

DP
type: SiteQuality
SIO_000300: 3.90558e5

VQSLOD
type: SiteQuality
SIO_000300: -1.862e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

QD
type: SiteQuality
SIO_000300: 7.04e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.539999999999999e-2

GenotypeQuality
all individuals: 237
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1177
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 939
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6266
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 586
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7898
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 362
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 3.556187766714083e-3
allele num: 1406
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 430
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.03e0

DP
type: SiteQuality
SIO_000300: 3.66671e5

QD
type: SiteQuality
SIO_000300: 1.14e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.4e0

MQRankSum
type: SiteQuality
SIO_000300: 6.78e-1

FS
type: SiteQuality
SIO_000300: 3.048e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.74e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.99e-1

GenotypeQuality
all individuals: 490
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 30920
bin: 7.5e0
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 430
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 360
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 590
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1406
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7896
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6248
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.88e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.589e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.74e-2

MQRankSum
type: SiteQuality
SIO_000300: -8.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.52e-1

QD
type: SiteQuality
SIO_000300: 1.351e1

VQSLOD
type: SiteQuality
SIO_000300: -1.723e0

DP
type: SiteQuality
SIO_000300: 3.66753e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.5e0

GenotypeQuality
all individuals: 947
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4403
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 422
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6188
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 588
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 7.22543352601156e-4
allele num: 1384
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 358
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7866
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.23e-1

QD
type: SiteQuality
SIO_000300: 1.386e1

VQSLOD
type: SiteQuality
SIO_000300: -6.999e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

MQ
type: SiteQuality
SIO_000300: 5.932e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.54e-1

FS
type: SiteQuality
SIO_000300: 1.9544e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.8e-2

DP
type: SiteQuality
SIO_000300: 3.64507e5

GenotypeQuality
all individuals: 46
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2910
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 484
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 178
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 570
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.272912423625254e-4
allele num: 7856
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1342
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 418
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 346
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6074
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.11e0

QD
type: SiteQuality
SIO_000300: 1.269e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.58687e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.86e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -6.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.55e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 725
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1177
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 960
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 418
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 178
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1338
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 572
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7868
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 342
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.653439153439153e-4
allele num: 6048
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.86e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.86e-2

MQ
type: SiteQuality
SIO_000300: 5.662e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.71e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.08e-1

DP
type: SiteQuality
SIO_000300: 3.56967e5

QD
type: SiteQuality
SIO_000300: 1.213e1

GenotypeQuality
all individuals: 38
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 968
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 172
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5772
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 386
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1262
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 310
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7798
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 554
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.04e-2

QD
type: SiteQuality
SIO_000300: 1.155e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.40096e5

VQSLOD
type: SiteQuality
SIO_000300: -2.082e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

GenotypeQuality
all individuals: 492
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 5.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7798
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 554
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 7.911392405063291e-4
allele num: 1264
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5746
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 324
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 382
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.632e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.83e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.381e-1

DP
type: SiteQuality
SIO_000300: 3.40238e5

ClippingRankSum
type: SiteQuality
SIO_000300: 7.79e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.03e-2

QD
type: SiteQuality
SIO_000300: 1.176e1

GenotypeQuality
all individuals: 190
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 990
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1150
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 350
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 170
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 324
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5476
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 544
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 6.451612903225806e-4
allele num: 7750
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.165e1

DP
type: SiteQuality
SIO_000300: 3.20487e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.559e0

MQRankSum
type: SiteQuality
SIO_000300: 5.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.870000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.882e-1

FS
type: SiteQuality
SIO_000300: 1.121e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.94e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

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

GenotypeQuality
all individuals: 1183
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 999
bin: 6.75e1
variant carriers: 1

African
type: Population
allele count: 1
allele frequency: 9.940357852882703e-4
allele num: 1006
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7640
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 518
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 358
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 326
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.755947812739831e-4
allele num: 5212
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 166
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.17e0

FS
type: SiteQuality
SIO_000300: 1.694e0

DP
type: SiteQuality
SIO_000300: 2.88217e5

MQRankSum
type: SiteQuality
SIO_000300: 3.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

QD
type: SiteQuality
SIO_000300: 1.535e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.96e-2

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

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 511
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 356
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5208
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 326
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 982
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 166
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 5.239717055279015e-4
allele num: 7634
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.089e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.03e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

DP
type: SiteQuality
SIO_000300: 2.86158e5

FS
type: SiteQuality
SIO_000300: 9.57e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.4e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.629e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

GenotypeQuality
all individuals: 180
bin: 8.75e1
variant carriers: 21

GenotypeQuality
all individuals: 1841
bin: 9.75e1
variant carriers: 880

GenotypeQuality
all individuals: 926
bin: 2.25e1
variant carriers: 36

European (Finnish)
type: Population
allele count: 82
allele frequency: 1.830357142857143e-1
allele num: 448
num of homozygotes: 3

East Asian
type: Population
allele count: 1
allele frequency: 1.945525291828794e-3
allele num: 514
num of homozygotes: 0

African
type: Population
allele count: 112
allele frequency: 1.147540983606557e-1
allele num: 976
num of homozygotes: 5

Latino
type: Population
allele count: 21
allele frequency: 6.481481481481481e-2
allele num: 324
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 476
allele frequency: 9.10133843212237e-2
allele num: 5230
num of homozygotes: 21

South Asian
type: Population
allele count: 207
allele frequency: 2.712264150943396e-2
allele num: 7632
num of homozygotes: 3

Other
type: Population
allele count: 9
allele frequency: 5.357142857142857e-2
allele num: 168
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.21e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.89e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.61e-2

FS
type: SiteQuality
SIO_000300: 5.26e-1

QD
type: SiteQuality
SIO_000300: 1.326e1

DP
type: SiteQuality
SIO_000300: 2.96591e5

GenotypeQuality
all individuals: 248
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 976
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1182
bin: 9.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.95388823759281e-4
allele num: 5118
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 486
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 308
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 382
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 912
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 162
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.84e-1

QD
type: SiteQuality
SIO_000300: 3.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.782e0

FS
type: SiteQuality
SIO_000300: 7.5985e1

MQ
type: SiteQuality
SIO_000300: 5.943e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.43e-2

MQRankSum
type: SiteQuality
SIO_000300: -8.2e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.672e1

DP
type: SiteQuality
SIO_000300: 2.75027e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.049e0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 510
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GenotypeQuality
all individuals: 1196
bin: 9.75e1
variant carriers: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 918
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.635046113306983e-4
allele num: 7590
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5172
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 308
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 162
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.36e-1

DP
type: SiteQuality
SIO_000300: 2.6661e5

MQRankSum
type: SiteQuality
SIO_000300: 1.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.48e-2

FS
type: SiteQuality
SIO_000300: 3.652e0

VQSLOD
type: SiteQuality
SIO_000300: -8.790000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.49e-1

MQ
type: SiteQuality
SIO_000300: 5.931e1

QD
type: SiteQuality
SIO_000300: 1.437e1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 254
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GenotypeQuality
all individuals: 1030
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 306
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5166
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 162
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 916
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 572
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.318565400843882e-4
allele num: 7584
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 502
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.56e-2

QD
type: SiteQuality
SIO_000300: 1.116e1

DP
type: SiteQuality
SIO_000300: 2.65203e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.87e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.46e0

VQSLOD
type: SiteQuality
SIO_000300: -9.761e-1

FS
type: SiteQuality
SIO_000300: 1.595e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.37e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

GenotypeQuality
all individuals: 741
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1197
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 180
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 4
allele frequency: 4.385964912280702e-3
allele num: 912
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 298
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 166
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 500
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 626
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5160
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.36e-2

DP
type: SiteQuality
SIO_000300: 2.58242e5

MQRankSum
type: SiteQuality
SIO_000300: 5.1e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.78e-1

FS
type: SiteQuality
SIO_000300: 1.743e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.06e0

QD
type: SiteQuality
SIO_000300: 1.363e1

MQ
type: SiteQuality
SIO_000300: 5.936e1

GenotypeQuality
all individuals: 30
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1198
bin: 9.75e1
variant carriers: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 912
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 644
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 294
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7544
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 168
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.937233630375823e-4
allele num: 5162
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.35e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.027e0

QD
type: SiteQuality
SIO_000300: 1.328e1

FS
type: SiteQuality
SIO_000300: 1.518e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.44e0

MQ
type: SiteQuality
SIO_000300: 5.896e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e0

DP
type: SiteQuality
SIO_000300: 2.58301e5

VQSLOD
type: SiteQuality
SIO_000300: -2.38e0

GenotypeQuality
all individuals: 181
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 3.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 168
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5166
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 916
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 660
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 294
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.325908247149297e-4
allele num: 7542
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.31e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.05e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.67e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

MQRankSum
type: SiteQuality
SIO_000300: -3.18e-1

DP
type: SiteQuality
SIO_000300: 2.58973e5

FS
type: SiteQuality
SIO_000300: 1.426e0

QD
type: SiteQuality
SIO_000300: 1.014e1

VQSLOD
type: SiteQuality
SIO_000300: -5.377e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.3e-2

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

GenotypeQuality
all individuals: 410
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 996
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 916
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 168
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5166
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.330494944119212e-4
allele num: 7516
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 696
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 294
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.7e-1

DP
type: SiteQuality
SIO_000300: 2.58111e5

BaseQRankSum
type: SiteQuality
SIO_000300: 3.97e-1

QD
type: SiteQuality
SIO_000300: 2.044e1

MQRankSum
type: SiteQuality
SIO_000300: -2.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.31e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.136e0

GenotypeQuality
all individuals: 370
bin: 8.25e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 698
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 170
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.934984520123839e-4
allele num: 5168
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7514
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 294
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 916
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.181e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.83e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.24e-1

FS
type: SiteQuality
SIO_000300: 1.496e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.36e-2

DP
type: SiteQuality
SIO_000300: 2.5829e5

GenotypeQuality
all individuals: 365
bin: 2.25e1
variant carriers: 97

GenotypeQuality
all individuals: 967
bin: 6.25e1
variant carriers: 130

GenotypeQuality
all individuals: 99
bin: 5.75e1
variant carriers: 70

European (Finnish)
type: Population
allele count: 848
allele frequency: 6.433990895295902e-1
allele num: 1318
num of homozygotes: 242

East Asian
type: Population
allele count: 346
allele frequency: 6.892430278884463e-1
allele num: 502
num of homozygotes: 123

Other
type: Population
allele count: 119
allele frequency: 6.134020618556701e-1
allele num: 194
num of homozygotes: 36

African
type: Population
allele count: 728
allele frequency: 7.878787878787878e-1
allele num: 924
num of homozygotes: 282

Latino
type: Population
allele count: 175
allele frequency: 5.993150684931506e-1
allele num: 292
num of homozygotes: 51

European (Non-Finnish)
type: Population
allele count: 2999
allele frequency: 5.738614619211634e-1
allele num: 5226
num of homozygotes: 825

South Asian
type: Population
allele count: 3817
allele frequency: 5.187550964936124e-1
allele num: 7358
num of homozygotes: 981

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.75e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.133e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.285e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.445e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.07e-1

DP
type: SiteQuality
SIO_000300: 2.96669e5

GenotypeQuality
all individuals: 278
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 8.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6398
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 284
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1132
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.0755500207555e-4
allele num: 4818
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 494
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -9.839e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.31e-1

QD
type: SiteQuality
SIO_000300: 1.006e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.17e-1

DP
type: SiteQuality
SIO_000300: 1.97769e5

MQ
type: SiteQuality
SIO_000300: 5.896e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.15e-2

GenotypeQuality
all individuals: 169
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 494
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.619170984455959e-4
allele num: 6176
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 280
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4760
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 162
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1124
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.89208e5

VQSLOD
type: SiteQuality
SIO_000300: -5.955e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.08e-2

MQRankSum
type: SiteQuality
SIO_000300: -9.62e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.914e1

QD
type: SiteQuality
SIO_000300: 8.640000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.7e-1

GenotypeQuality
all individuals: 184
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 278
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1114
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4628
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5874
num of homozygotes: 0

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

African
type: Population
allele count: 8
allele frequency: 9.070294784580499e-3
allele num: 882
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 162
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.41e-2

MQ
type: SiteQuality
SIO_000300: 5.963e1

DP
type: SiteQuality
SIO_000300: 1.80545e5

ClippingRankSum
type: SiteQuality
SIO_000300: -2.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.66e-1

QD
type: SiteQuality
SIO_000300: 1.395e1

GenotypeQuality
all individuals: 55
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 144
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 480
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1078
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 2.032520325203252e-4
allele num: 4920
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 268
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4314
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.734e0

QD
type: SiteQuality
SIO_000300: 1.278e1

DP
type: SiteQuality
SIO_000300: 1.5708e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 9.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-2

MQ
type: SiteQuality
SIO_000300: 5.82e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.27e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.76e0

GenotypeQuality
all individuals: 144
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 4.25e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3694
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 112
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 5.858230814294083e-4
allele num: 3414
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1014
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 244
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 454
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.98e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.87e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.31e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.271e0

DP
type: SiteQuality
SIO_000300: 1.33481e5

QD
type: SiteQuality
SIO_000300: 1.101e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.29e-1

GenotypeQuality
all individuals: 296
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 84
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 234
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 106
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.617801047120419e-3
allele num: 764
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3344
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2548
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 436
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 938
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.24796e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.419999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

MQRankSum
type: SiteQuality
SIO_000300: 2.27e-1

QD
type: SiteQuality
SIO_000300: 1.028e1

VQSLOD
type: SiteQuality
SIO_000300: 6.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.33e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

GenotypeQuality
all individuals: 89
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 664
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 300
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2308
num of homozygotes: 0

South Asian
type: Population
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European (Finnish)
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allele frequency: 0.0e0
allele num: 522
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Latino
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allele num: 174
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BaseQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
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VQSLOD
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DP
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InbreedingCoeff
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SIO_000300: -6.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.74e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.21e-1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
all individuals: 340
bin: 9.75e1
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African
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allele num: 640
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East Asian
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allele frequency: 0.0e0
allele num: 286
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Latino
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allele frequency: 0.0e0
allele num: 170
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 2226
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Other
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allele frequency: 0.0e0
allele num: 40
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European (Finnish)
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allele frequency: 4.201680672268907e-3
allele num: 476
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South Asian
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MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

FS
type: SiteQuality
SIO_000300: 4.946e0

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.63e-1

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -6.6e-2

QD
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ReadPosRankSum
type: SiteQuality
SIO_000300: 6.78e-1

MQ
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VQSLOD
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East Asian
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allele frequency: 6.153846153846154e-1
allele num: 130
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European (Finnish)
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allele frequency: NaN
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European (Non-Finnish)
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allele frequency: 2.649402390438247e-1
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Other
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African
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South Asian
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.24e0

InbreedingCoeff
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SIO_000300: 6.660000000000001e-2

VQSLOD
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.64e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-2

DP
type: SiteQuality
SIO_000300: 1.50153e5

QD
type: SiteQuality
SIO_000300: 1.501e1

Latino
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allele frequency: 0.0e0
allele num: 90
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East Asian
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allele count: 0
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Other
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South Asian
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allele frequency: 1.380452788514633e-4
allele num: 7244
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European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2516
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VQSLOD
type: SiteQuality
SIO_000300: -1.029e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.642e0

QD
type: SiteQuality
SIO_000300: 1.403e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.53e0

FS
type: SiteQuality
SIO_000300: 1.1416e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.41525e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.01e-1

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 188
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2520
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South Asian
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allele num: 7248
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Latino
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East Asian
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allele count: 0
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MQRankSum
type: SiteQuality
SIO_000300: 7.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.04e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-2

DP
type: SiteQuality
SIO_000300: 1.42649e5

BaseQRankSum
type: SiteQuality
SIO_000300: 4.09e0

FS
type: SiteQuality
SIO_000300: 1.6448e1

MQ
type: SiteQuality
SIO_000300: 5.952e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e-1

QD
type: SiteQuality
SIO_000300: 1.196e1

VQSLOD
type: SiteQuality
SIO_000300: -2.241e0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 90
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South Asian
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Other
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East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 3.909304143862392e-4
allele num: 2558
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FS
type: SiteQuality
SIO_000300: 8.73e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.652e0

MQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.76e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.61e-1

QD
type: SiteQuality
SIO_000300: 9.44e0

DP
type: SiteQuality
SIO_000300: 1.47024e5

ClippingRankSum
type: SiteQuality
SIO_000300: 7.77e-1

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

South Asian
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allele count: 1
allele frequency: 1.361285053090117e-4
allele num: 7346
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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
allele num: 90
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 2596
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Other
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.33e-2

FS
type: SiteQuality
SIO_000300: 5.483e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.76e0

VQSLOD
type: SiteQuality
SIO_000300: 2.86e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.69e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.555e0

DP
type: SiteQuality
SIO_000300: 1.50129e5

QD
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SIO_000300: 1.15e1

Other
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allele frequency: 0.0e0
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African
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allele num: 190
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Latino
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allele num: 90
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 132
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2610
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.58e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.495e0

VQSLOD
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SIO_000300: 2.33e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.51015e5

ClippingRankSum
type: SiteQuality
SIO_000300: 9.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

QD
type: SiteQuality
SIO_000300: 1.113e1

African
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allele count: 0
allele frequency: 0.0e0
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 116
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European (Finnish)
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allele count: 0
allele frequency: NaN
allele num: 0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 132
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South Asian
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allele frequency: 1.363140676117775e-4
allele num: 7336
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2578
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.162e0

MQRankSum
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DP
type: SiteQuality
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FS
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.45e-2

VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.928e1

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
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